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A repository for genes associated with endometriosis

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Gene id 4088
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol SMAD3   Gene   UCSC   Ensembl
Aliases HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
Gene name SMAD family member 3
Alternate names mothers against decapentaplegic homolog 3, MAD homolog 3, MAD, mothers against decapentaplegic homolog 3, SMA- and MAD-related protein 3, SMAD, mothers against DPP homolog 3, hMAD-3, hSMAD3, mad homolog JV15-2, mad protein homolog, mad3, mothers against DPP homolog,
Gene location 15q22.33 (67065697: 67195194)     Exons: 13     NC_000015.10
Gene summary(Entrez) The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]
OMIM 603109

Protein Summary

Protein general information P84022  

Name: Mothers against decapentaplegic homolog 3 (MAD homolog 3) (Mad3) (Mothers against DPP homolog 3) (hMAD 3) (JV15 2) (SMAD family member 3) (SMAD 3) (Smad3) (hSMAD3)

Length: 425  Mass: 48,081

Sequence MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRL
QVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEF
PPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVT
YCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIG
GEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMS
FVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS
Structural information
Protein Domains
MH1. (10-136)
MH2. (232-425)
Interpro:  IPR013790 IPR003619 IPR013019 IPR017855 IPR001132 IPR008984
Prosite:   PS51075 PS51076

Pfam:  
PF03165 PF03166

PDB:  
1MHD 1MJS 1MK2 1OZJ 1U7F 2LAJ 2LB2
PDBsum:   1MHD 1MJS 1MK2 1OZJ 1U7F 2LAJ 2LB2

DIP:  
29720
MINT:   193987
STRING:   ENSP00000332973;
Other Databases GeneCards:  SMAD3;  Malacards:  SMAD3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0000790 nuclear chromatin
IDA cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0000983 transcription factor acti
vity, RNA polymerase II c
ore promoter sequence-spe
cific
IDA molecular_function
GO:0000987 core promoter proximal re
gion sequence-specific DN
A binding
IDA molecular_function
GO:0000987 core promoter proximal re
gion sequence-specific DN
A binding
IDA molecular_function
GO:0001102 RNA polymerase II activat
ing transcription factor
binding
IPI molecular_function
GO:0001657 ureteric bud development
IEA biological_process
GO:0001666 response to hypoxia
IMP biological_process
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0001707 mesoderm formation
IEA biological_process
GO:0001756 somitogenesis
IEA biological_process
GO:0001889 liver development
IEA biological_process
GO:0001947 heart looping
IEA biological_process
GO:0002076 osteoblast development
IEA biological_process
GO:0002520 immune system development
IEA biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005518 collagen binding
IEA molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005637 nuclear inner membrane
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IDA biological_process
GO:0006810 transport
IDA biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0006955 immune response
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007492 endoderm development
IEA biological_process
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008270 zinc ion binding
IDA molecular_function
GO:0009880 embryonic pattern specifi
cation
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010694 positive regulation of al
kaline phosphatase activi
ty
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IMP biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0016202 regulation of striated mu
scle tissue development
IEA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IMP biological_process
GO:0019049 evasion or tolerance of h
ost defenses by virus
IDA biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0019902 phosphatase binding
IPI molecular_function
GO:0023019 signal transduction invol
ved in regulation of gene
expression
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030501 positive regulation of bo
ne mineralization
IEA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030618 transforming growth facto
r beta receptor, pathway-
specific cytoplasmic medi
ator activity
IDA molecular_function
GO:0030878 thyroid gland development
IEA biological_process
GO:0031053 primary miRNA processing
TAS biological_process
GO:0031490 chromatin DNA binding
IEA molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032332 positive regulation of ch
ondrocyte differentiation
IEA biological_process
GO:0032731 positive regulation of in
terleukin-1 beta producti
on
IEA biological_process
GO:0032909 regulation of transformin
g growth factor beta2 pro
duction
IMP biological_process
GO:0032916 positive regulation of tr
ansforming growth factor
beta3 production
IEA biological_process
GO:0032924 activin receptor signalin
g pathway
IMP biological_process
GO:0033689 negative regulation of os
teoblast proliferation
IEA biological_process
GO:0035326 enhancer binding
IC molecular_function
GO:0038092 nodal signaling pathway
IMP biological_process
GO:0042060 wound healing
TAS biological_process
GO:0042110 T cell activation
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042993 positive regulation of tr
anscription factor import
into nucleus
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043130 ubiquitin binding
IDA molecular_function
GO:0043235 receptor complex
IMP cellular_component
GO:0043425 bHLH transcription factor
binding
IPI molecular_function
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045216 cell-cell junction organi
zation
IMP biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IDA biological_process
GO:0045668 negative regulation of os
teoblast differentiation
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048340 paraxial mesoderm morphog
enesis
IEA biological_process
GO:0048589 developmental growth
IEA biological_process
GO:0048617 embryonic foregut morphog
enesis
IEA biological_process
GO:0048701 embryonic cranial skeleto
n morphogenesis
IEA biological_process
GO:0050678 regulation of epithelial
cell proliferation
IEA biological_process
GO:0050728 negative regulation of in
flammatory response
IEA biological_process
GO:0050776 regulation of immune resp
onse
IEA biological_process
GO:0050927 positive regulation of po
sitive chemotaxis
IEA biological_process
GO:0051098 regulation of binding
IEA biological_process
GO:0051496 positive regulation of st
ress fiber assembly
IEA biological_process
GO:0051894 positive regulation of fo
cal adhesion assembly
IEA biological_process
GO:0060039 pericardium development
IEA biological_process
GO:0060290 transdifferentiation
IEA biological_process
GO:0060395 SMAD protein signal trans
duction
IEA biological_process
GO:0061045 negative regulation of wo
und healing
IEA biological_process
GO:0070306 lens fiber cell different
iation
IEA biological_process
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070412 R-SMAD binding
IPI molecular_function
GO:0070412 R-SMAD binding
IPI molecular_function
GO:0071141 SMAD protein complex
IDA cellular_component
GO:0071141 SMAD protein complex
IDA cellular_component
GO:0071144 SMAD2-SMAD3 protein compl
ex
IDA cellular_component
GO:0097191 extrinsic apoptotic signa
ling pathway
IMP biological_process
GO:0097296 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic si
gnaling pathway
IEA biological_process
GO:1901203 positive regulation of ex
tracellular matrix assemb
ly
IDA biological_process
GO:0000988 transcription factor acti
vity, protein binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0000790 nuclear chromatin
IDA cellular_component
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IEA molecular_function
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0000983 transcription factor acti
vity, RNA polymerase II c
ore promoter sequence-spe
cific
IDA molecular_function
GO:0000987 core promoter proximal re
gion sequence-specific DN
A binding
IDA molecular_function
GO:0000987 core promoter proximal re
gion sequence-specific DN
A binding
IDA molecular_function
GO:0001102 RNA polymerase II activat
ing transcription factor
binding
IPI molecular_function
GO:0001501 skeletal system developme
nt
IEA biological_process
GO:0001649 osteoblast differentiatio
n
IEA biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0001666 response to hypoxia
IMP biological_process
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0001707 mesoderm formation
IEA biological_process
GO:0001756 somitogenesis
IEA biological_process
GO:0001889 liver development
IEA biological_process
GO:0001947 heart looping
IEA biological_process
GO:0002076 osteoblast development
IEA biological_process
GO:0002520 immune system development
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003682 chromatin binding
IEA molecular_function
GO:0003690 double-stranded DNA bindi
ng
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005518 collagen binding
IEA molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005637 nuclear inner membrane
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IEA cellular_component
GO:0005667 transcription factor comp
lex
IEA cellular_component
GO:0005667 transcription factor comp
lex
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IDA biological_process
GO:0006810 transport
IDA biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0006955 immune response
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007183 SMAD protein complex asse
mbly
IEA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007369 gastrulation
IEA biological_process
GO:0007492 endoderm development
IEA biological_process
GO:0008134 transcription factor bind
ing
IEA molecular_function
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008270 zinc ion binding
IDA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0009880 embryonic pattern specifi
cation
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010694 positive regulation of al
kaline phosphatase activi
ty
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IMP biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0016202 regulation of striated mu
scle tissue development
IEA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IEA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IMP biological_process
GO:0019049 evasion or tolerance of h
ost defenses by virus
IDA biological_process
GO:0019899 enzyme binding
IEA molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0019902 phosphatase binding
IPI molecular_function
GO:0023019 signal transduction invol
ved in regulation of gene
expression
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030501 positive regulation of bo
ne mineralization
IEA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030618 transforming growth facto
r beta receptor, pathway-
specific cytoplasmic medi
ator activity
IDA molecular_function
GO:0030878 thyroid gland development
IEA biological_process
GO:0031053 primary miRNA processing
TAS biological_process
GO:0031490 chromatin DNA binding
IEA molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032332 positive regulation of ch
ondrocyte differentiation
IEA biological_process
GO:0032731 positive regulation of in
terleukin-1 beta producti
on
IEA biological_process
GO:0032909 regulation of transformin
g growth factor beta2 pro
duction
IMP biological_process
GO:0032916 positive regulation of tr
ansforming growth factor
beta3 production
IEA biological_process
GO:0032924 activin receptor signalin
g pathway
IMP biological_process
GO:0033689 negative regulation of os
teoblast proliferation
IEA biological_process
GO:0035326 enhancer binding
IC molecular_function
GO:0038092 nodal signaling pathway
IMP biological_process
GO:0042060 wound healing
TAS biological_process
GO:0042110 T cell activation
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042993 positive regulation of tr
anscription factor import
into nucleus
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043130 ubiquitin binding
IDA molecular_function
GO:0043234 protein complex
IEA cellular_component
GO:0043235 receptor complex
IMP cellular_component
GO:0043425 bHLH transcription factor
binding
IPI molecular_function
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045216 cell-cell junction organi
zation
IMP biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IDA biological_process
GO:0045668 negative regulation of os
teoblast differentiation
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0046332 SMAD binding
IEA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048340 paraxial mesoderm morphog
enesis
IEA biological_process
GO:0048589 developmental growth
IEA biological_process
GO:0048617 embryonic foregut morphog
enesis
IEA biological_process
GO:0048701 embryonic cranial skeleto
n morphogenesis
IEA biological_process
GO:0050678 regulation of epithelial
cell proliferation
IEA biological_process
GO:0050728 negative regulation of in
flammatory response
IEA biological_process
GO:0050776 regulation of immune resp
onse
IEA biological_process
GO:0050927 positive regulation of po
sitive chemotaxis
IEA biological_process
GO:0051098 regulation of binding
IEA biological_process
GO:0051496 positive regulation of st
ress fiber assembly
IEA biological_process
GO:0051894 positive regulation of fo
cal adhesion assembly
IEA biological_process
GO:0060039 pericardium development
IEA biological_process
GO:0060290 transdifferentiation
IEA biological_process
GO:0060395 SMAD protein signal trans
duction
IEA biological_process
GO:0061045 negative regulation of wo
und healing
IEA biological_process
GO:0070306 lens fiber cell different
iation
IEA biological_process
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070412 R-SMAD binding
IPI molecular_function
GO:0070412 R-SMAD binding
IPI molecular_function
GO:0071141 SMAD protein complex
IDA cellular_component
GO:0071141 SMAD protein complex
IDA cellular_component
GO:0071144 SMAD2-SMAD3 protein compl
ex
IDA cellular_component
GO:0097191 extrinsic apoptotic signa
ling pathway
IMP biological_process
GO:0097296 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic si
gnaling pathway
IEA biological_process
GO:1901203 positive regulation of ex
tracellular matrix assemb
ly
IDA biological_process
GO:0000988 transcription factor acti
vity, protein binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0000790 nuclear chromatin
IDA cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0000983 transcription factor acti
vity, RNA polymerase II c
ore promoter sequence-spe
cific
IDA molecular_function
GO:0000987 core promoter proximal re
gion sequence-specific DN
A binding
IDA molecular_function
GO:0000987 core promoter proximal re
gion sequence-specific DN
A binding
IDA molecular_function
GO:0001102 RNA polymerase II activat
ing transcription factor
binding
IPI molecular_function
GO:0001666 response to hypoxia
IMP biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005637 nuclear inner membrane
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IDA biological_process
GO:0006810 transport
IDA biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0006955 immune response
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
TAS biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0007183 SMAD protein complex asse
mbly
IDA biological_process
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008134 transcription factor bind
ing
IPI molecular_function
GO:0008270 zinc ion binding
IDA molecular_function
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IMP biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IMP biological_process
GO:0019049 evasion or tolerance of h
ost defenses by virus
IDA biological_process
GO:0019901 protein kinase binding
IPI molecular_function
GO:0019902 phosphatase binding
IPI molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030618 transforming growth facto
r beta receptor, pathway-
specific cytoplasmic medi
ator activity
IDA molecular_function
GO:0031053 primary miRNA processing
TAS biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032909 regulation of transformin
g growth factor beta2 pro
duction
IMP biological_process
GO:0032924 activin receptor signalin
g pathway
IMP biological_process
GO:0035326 enhancer binding
IC molecular_function
GO:0038092 nodal signaling pathway
IMP biological_process
GO:0042060 wound healing
TAS biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042993 positive regulation of tr
anscription factor import
into nucleus
IDA biological_process
GO:0043130 ubiquitin binding
IDA molecular_function
GO:0043235 receptor complex
IMP cellular_component
GO:0043425 bHLH transcription factor
binding
IPI molecular_function
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045216 cell-cell junction organi
zation
IMP biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070410 co-SMAD binding
IPI molecular_function
GO:0070412 R-SMAD binding
IPI molecular_function
GO:0070412 R-SMAD binding
IPI molecular_function
GO:0071141 SMAD protein complex
IDA cellular_component
GO:0071141 SMAD protein complex
IDA cellular_component
GO:0071144 SMAD2-SMAD3 protein compl
ex
IDA cellular_component
GO:0097191 extrinsic apoptotic signa
ling pathway
IMP biological_process
GO:1901203 positive regulation of ex
tracellular matrix assemb
ly
IDA biological_process
GO:0000988 transcription factor acti
vity, protein binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa05166  HTLV-I infection
hsa05161  Hepatitis B
hsa04068  FoxO signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04659  Th17 cell differentiation
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04144  Endocytosis
hsa05142  Chagas disease
hsa04390  Hippo signaling pathway
hsa05321  Inflammatory bowel disease
hsa04110  Cell cycle
hsa04371  Apelin signaling pathway
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05210  Colorectal cancer
hsa04350  TGF-beta signaling pathway
hsa04520  Adherens junction
hsa04310  Wnt signaling pathway

Diseases

Associated diseases References
Alzheimer's disease PMID: 18780302
Asthma PMID: 20860503
Cancer PMID: 19351817
Crohn's disease PMID: 21102463
Diabetes PMID: 19247629
Endometriosis PMID: 25228630
Hypertension PMID: 19211612
Loeys-Dietz syndrome KEGG: H00800, OMIM: 603109
Endometriosis INFBASE25228630

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25228630 Endometrio
sis

27 (15 women wi
th endometriosi
s, 15 women wit
hout endometrio
sis)
Nodal
Cripto
SMAD3
SMAD4
Show abstract