Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2022
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ENG   Gene   UCSC   Ensembl
Aliases END, HHT1, ORW1
Gene name endoglin
Alternate names endoglin, CD105 antigen,
Gene location 9q34.11 (127854772: 127815011)     Exons: 16     NC_000009.12
Gene summary(Entrez) This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
OMIM 131195

Protein Summary

Protein general information P17813  

Name: Endoglin (CD antigen CD105)

Length: 658  Mass: 70,578

Tissue specificity: Endoglin is restricted to endothelial cells in all tissues except bone marrow.

Sequence MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGP
SQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWA
AERGPITSAAELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLP
GHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL
GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKE
LVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSF
QLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPE
GDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF
LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA
Structural information

Motifs
Cell attachment(399-401)
Interpro:  IPR001507

Pfam:  
PF00100

DIP:  
6246
MINT:   4529566
STRING:   ENSP00000362299;
Other Databases GeneCards:  ENG;  Malacards:  ENG

Gene ontology


GO accessionTerm nameEvidence codeGo category
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
IDA biological_process
GO:0001300 chronological cell aging
IEA biological_process
GO:0001300 chronological cell aging
IEP biological_process
GO:0001569 branching involved in blo
od vessel morphogenesis
ISS biological_process
GO:0001570 vasculogenesis
IMP biological_process
GO:0001666 response to hypoxia
IDA biological_process
GO:0001666 response to hypoxia
IDA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IDA biological_process
GO:0001937 negative regulation of en
dothelial cell proliferat
ion
IMP biological_process
GO:0001947 heart looping
ISS biological_process
GO:0003084 positive regulation of sy
stemic arterial blood pre
ssure
IMP biological_process
GO:0003273 cell migration involved i
n endocardial cushion for
mation
IEA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
NAS molecular_function
GO:0005024 transforming growth facto
r beta-activated receptor
activity
IDA molecular_function
GO:0005072 transforming growth facto
r beta receptor, cytoplas
mic mediator activity
IDA molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
ISS 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:0005534 galactose binding
IDA molecular_function
GO:0005539 glycosaminoglycan binding
IDA molecular_function
GO:0005539 glycosaminoglycan binding
ISS molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
IMP biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0016477 cell migration
IMP biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IDA biological_process
GO:0022009 central nervous system va
sculogenesis
IMP biological_process
GO:0022617 extracellular matrix disa
ssembly
IMP biological_process
GO:0030155 regulation of cell adhesi
on
TAS biological_process
GO:0030155 regulation of cell adhesi
on
TAS biological_process
GO:0030336 negative regulation of ce
ll migration
IDA biological_process
GO:0030509 BMP signaling pathway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030513 positive regulation of BM
P signaling pathway
IDA biological_process
GO:0031953 negative regulation of pr
otein autophosphorylation
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
ISS molecular_function
GO:0042060 wound healing
IMP biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042325 regulation of phosphoryla
tion
TAS biological_process
GO:0042325 regulation of phosphoryla
tion
TAS biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043235 receptor complex
IPI cellular_component
GO:0045766 positive regulation of an
giogenesis
IEA 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:0048185 activin binding
TAS molecular_function
GO:0048745 smooth muscle tissue deve
lopment
ISS biological_process
GO:0048844 artery morphogenesis
ISS biological_process
GO:0048845 venous blood vessel morph
ogenesis
ISS biological_process
GO:0048870 cell motility
IMP biological_process
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0051001 negative regulation of ni
tric-oxide synthase activ
ity
IMP biological_process
GO:0060326 cell chemotaxis
IMP biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0070022 transforming growth facto
r beta receptor complex
IC cellular_component
GO:0070483 detection of hypoxia
IDA biological_process
GO:0070483 detection of hypoxia
IDA biological_process
GO:0072563 endothelial microparticle
IEA cellular_component
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0036122 BMP binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
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
IDA biological_process
GO:0001300 chronological cell aging
IEA biological_process
GO:0001300 chronological cell aging
IEP biological_process
GO:0001525 angiogenesis
IEA biological_process
GO:0001525 angiogenesis
IEA biological_process
GO:0001569 branching involved in blo
od vessel morphogenesis
IEA biological_process
GO:0001569 branching involved in blo
od vessel morphogenesis
ISS biological_process
GO:0001570 vasculogenesis
IEA biological_process
GO:0001570 vasculogenesis
IMP biological_process
GO:0001666 response to hypoxia
IDA biological_process
GO:0001666 response to hypoxia
IDA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IDA biological_process
GO:0001937 negative regulation of en
dothelial cell proliferat
ion
IMP biological_process
GO:0001947 heart looping
IEA biological_process
GO:0001947 heart looping
ISS biological_process
GO:0003084 positive regulation of sy
stemic arterial blood pre
ssure
IMP biological_process
GO:0003273 cell migration involved i
n endocardial cushion for
mation
IEA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
NAS molecular_function
GO:0005024 transforming growth facto
r beta-activated receptor
activity
IDA molecular_function
GO:0005072 transforming growth facto
r beta receptor, cytoplas
mic mediator activity
IDA molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
ISS 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:0005534 galactose binding
IDA molecular_function
GO:0005539 glycosaminoglycan binding
IDA molecular_function
GO:0005539 glycosaminoglycan binding
ISS molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
IMP biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0007507 heart development
IEA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016477 cell migration
IMP biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IDA biological_process
GO:0022009 central nervous system va
sculogenesis
IMP biological_process
GO:0022617 extracellular matrix disa
ssembly
IMP biological_process
GO:0030155 regulation of cell adhesi
on
TAS biological_process
GO:0030155 regulation of cell adhesi
on
TAS biological_process
GO:0030336 negative regulation of ce
ll migration
IDA biological_process
GO:0030509 BMP signaling pathway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030513 positive regulation of BM
P signaling pathway
IDA biological_process
GO:0031953 negative regulation of pr
otein autophosphorylation
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
ISS molecular_function
GO:0042060 wound healing
IMP biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042325 regulation of phosphoryla
tion
TAS biological_process
GO:0042325 regulation of phosphoryla
tion
TAS biological_process
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043235 receptor complex
IPI cellular_component
GO:0045766 positive regulation of an
giogenesis
IEA 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:0048185 activin binding
TAS molecular_function
GO:0048745 smooth muscle tissue deve
lopment
IEA biological_process
GO:0048745 smooth muscle tissue deve
lopment
ISS biological_process
GO:0048844 artery morphogenesis
IEA biological_process
GO:0048844 artery morphogenesis
ISS biological_process
GO:0048845 venous blood vessel morph
ogenesis
IEA biological_process
GO:0048845 venous blood vessel morph
ogenesis
ISS biological_process
GO:0048870 cell motility
IMP biological_process
GO:0050431 transforming growth facto
r beta binding
IEA molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0051001 negative regulation of ni
tric-oxide synthase activ
ity
IMP biological_process
GO:0060326 cell chemotaxis
IMP biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0070022 transforming growth facto
r beta receptor complex
IC cellular_component
GO:0070483 detection of hypoxia
IDA biological_process
GO:0070483 detection of hypoxia
IDA biological_process
GO:0072563 endothelial microparticle
IEA cellular_component
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0036122 BMP binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
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
IDA biological_process
GO:0001300 chronological cell aging
IEP biological_process
GO:0001569 branching involved in blo
od vessel morphogenesis
ISS biological_process
GO:0001570 vasculogenesis
IMP biological_process
GO:0001666 response to hypoxia
IDA biological_process
GO:0001666 response to hypoxia
IDA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IDA biological_process
GO:0001937 negative regulation of en
dothelial cell proliferat
ion
IMP biological_process
GO:0001947 heart looping
ISS biological_process
GO:0003084 positive regulation of sy
stemic arterial blood pre
ssure
IMP biological_process
GO:0004888 transmembrane signaling r
eceptor activity
NAS molecular_function
GO:0005024 transforming growth facto
r beta-activated receptor
activity
IDA molecular_function
GO:0005072 transforming growth facto
r beta receptor, cytoplas
mic mediator activity
IDA molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
IPI molecular_function
GO:0005114 type II transforming grow
th factor beta receptor b
inding
ISS 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:0005534 galactose binding
IDA molecular_function
GO:0005539 glycosaminoglycan binding
IDA molecular_function
GO:0005539 glycosaminoglycan binding
ISS molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
IMP biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0010862 positive regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0016477 cell migration
IMP biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IDA biological_process
GO:0022009 central nervous system va
sculogenesis
IMP biological_process
GO:0022617 extracellular matrix disa
ssembly
IMP biological_process
GO:0030155 regulation of cell adhesi
on
TAS biological_process
GO:0030155 regulation of cell adhesi
on
TAS biological_process
GO:0030336 negative regulation of ce
ll migration
IDA biological_process
GO:0030509 BMP signaling pathway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030513 positive regulation of BM
P signaling pathway
IDA biological_process
GO:0031953 negative regulation of pr
otein autophosphorylation
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
ISS molecular_function
GO:0042060 wound healing
IMP biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042127 regulation of cell prolif
eration
TAS biological_process
GO:0042325 regulation of phosphoryla
tion
TAS biological_process
GO:0042325 regulation of phosphoryla
tion
TAS biological_process
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043235 receptor complex
IPI cellular_component
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:0048185 activin binding
TAS molecular_function
GO:0048745 smooth muscle tissue deve
lopment
ISS biological_process
GO:0048844 artery morphogenesis
ISS biological_process
GO:0048845 venous blood vessel morph
ogenesis
ISS biological_process
GO:0048870 cell motility
IMP biological_process
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function
GO:0051001 negative regulation of ni
tric-oxide synthase activ
ity
IMP biological_process
GO:0060326 cell chemotaxis
IMP biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IMP biological_process
GO:0070022 transforming growth facto
r beta receptor complex
IC cellular_component
GO:0070483 detection of hypoxia
IDA biological_process
GO:0070483 detection of hypoxia
IDA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IDA biological_process
GO:0036122 BMP binding
IPI molecular_function
GO:0050431 transforming growth facto
r beta binding
IPI molecular_function

Diseases

Associated diseases References
Cancer PMID: 18676680
Cerebral arteriopathy PMID: 15926713
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Endometrial cancer PMID: 23932095
Endometriosis PMID: 15821778
Hemorrhagic telangiectasia PMID: 12920067
Hereditary hemorrhagic telangiectasia KEGG: H00533
Kidney disease PMID: 19578796
Preeclampsia PMID: 19842088
Pulmonary hypertension KEGG: H01621
Endometriosis INFBASE11704111
Telangiectasia OMIM: 131195

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15821778 Endometrio
sis


Endoglin
S100A13
Show abstract
11704111 Endometrio
sis

40 (20 women wi
th histological
ly confirmed en
dometriosis aft
er laparotomy o
r laparoscopy,
20 women with c
arcinoma in sit
u of uterine ce
rvix, but no ev
idence of endom
etriosis as con
trols)
Endoglin
Show abstract