Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 998
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CDC42   Gene   UCSC   Ensembl
Aliases CDC42Hs, G25K, TKS
Gene name cell division cycle 42
Alternate names cell division control protein 42 homolog, G25K GTP-binding protein, GTP binding protein, 25kDa, dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD)), dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD)), growth-regulating protein, small GTP binding protein CDC42,
Gene location 1p36.12 (22052626: 22092942)     Exons: 8     NC_000001.11
Gene summary(Entrez) The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]
OMIM 116952

SNPs

rs12038474

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.22076864G>A
NC_000001.10   g.22403357G>A
NC_000001.11   g.22076864G>A
NG_047042.1   g.29238G>A
NM_001039802.1   c.-50-1565G>A
NM_001791.3   c.-50-1565G>A
NM_044472.2   c.-50-1565G>A
rs12038474

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.22076864G>A
NC_000001.10   g.22403357G>A
NC_000001.11   g.22076864G>A
NG_047042.1   g.29238G>A
NM_001039802.1   c.-50-1565G>A
NM_001791.3   c.-50-1565G>A
NM_044472.2   c.-50-1565G>A

Protein Summary

Protein general information P60953  

Name: Cell division control protein 42 homolog (G25K GTP-binding protein)

Length: 191  Mass: 21,259

Sequence MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQT
DVFLVCFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTQIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLK
AVKYVECSALTQKGLKNVFDEAILAALEPPEPKKSRRCVLL
Structural information

Motifs
Effector region.(32-40)
Interpro:  IPR037874 IPR027417 IPR005225 IPR001806 IPR003578
Prosite:   PS51420

Pfam:  
PF00071
CDD:   cd01874

PDB:  
1A4R 1AJE 1AM4 1AN0 1CEE 1CF4 1DOA 1E0A 1EES 1GRN 1GZS 1KI1 1KZ7 1KZG 1NF3 2ASE 2DFK 2KB0 2NGR 2ODB 2QRZ 2WM9 2WMN 2WMO 3GCG 3QBV 3VHL 4DID 4ITR 4JS0 4YC7 4YDH 5CJP 5FI1 5HZK 5UPK 5UPL
PDBsum:   1A4R 1AJE 1AM4 1AN0 1CEE 1CF4 1DOA 1E0A 1EES 1GRN 1GZS 1KI1 1KZ7 1KZG 1NF3 2ASE 2DFK 2KB0 2NGR 2ODB 2QRZ 2WM9 2WMN 2WMO 3GCG 3QBV 3VHL 4DID 4ITR 4JS0 4YC7 4YDH 5CJP 5FI1 5HZK 5UPK 5UPL

DIP:  
31097
MINT:  
STRING:   ENSP00000314458;
Other Databases GeneCards:  CDC42;  Malacards:  CDC42

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
ISS cellular_component
GO:0000322 storage vacuole
IEA cellular_component
GO:0002040 sprouting angiogenesis
IEA biological_process
GO:0003161 cardiac conduction system
development
IEA biological_process
GO:0003334 keratinocyte development
IEA biological_process
GO:0003924 GTPase activity
TAS 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: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:0005525 GTP binding
IDA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005815 microtubule organizing ce
nter
IEA 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
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005911 cell-cell junction
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007030 Golgi organization
ISS biological_process
GO:0007088 regulation of mitotic nuc
lear division
IEA biological_process
GO:0007097 nuclear migration
IEA biological_process
GO:0007163 establishment or maintena
nce of cell polarity
TAS biological_process
GO:0007264 small GTPase mediated sig
nal transduction
IEA biological_process
GO:0007596 blood coagulation
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016567 protein ubiquitination
IEA biological_process
GO:0019901 protein kinase binding
IDA molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0021762 substantia nigra developm
ent
IEP biological_process
GO:0030036 actin cytoskeleton organi
zation
IDA biological_process
GO:0030141 secretory granule
IEA cellular_component
GO:0030175 filopodium
IDA cellular_component
GO:0030225 macrophage differentiatio
n
TAS biological_process
GO:0030307 positive regulation of ce
ll growth
IMP biological_process
GO:0030496 midbody
IDA cellular_component
GO:0030742 GTP-dependent protein bin
ding
IEA molecular_function
GO:0031069 hair follicle morphogenes
is
IEA biological_process
GO:0031256 leading edge membrane
IEA cellular_component
GO:0031274 positive regulation of ps
eudopodium assembly
IDA biological_process
GO:0031295 T cell costimulation
TAS biological_process
GO:0031333 negative regulation of pr
otein complex assembly
IPI biological_process
GO:0031424 keratinization
IEA biological_process
GO:0031435 mitogen-activated protein
kinase kinase kinase bin
ding
IEA molecular_function
GO:0031647 regulation of protein sta
bility
IEA biological_process
GO:0031996 thioesterase binding
IPI molecular_function
GO:0032467 positive regulation of cy
tokinesis
IMP biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0034191 apolipoprotein A-I recept
or binding
IPI molecular_function
GO:0034332 adherens junction organiz
ation
IEA biological_process
GO:0034613 cellular protein localiza
tion
IEA biological_process
GO:0035088 establishment or maintena
nce of apical/basal cell
polarity
IEA biological_process
GO:0035264 multicellular organism gr
owth
IEA biological_process
GO:0036336 dendritic cell migration
IEA biological_process
GO:0036464 cytoplasmic ribonucleopro
tein granule
IDA cellular_component
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
TAS biological_process
GO:0042059 negative regulation of ep
idermal growth factor rec
eptor signaling pathway
TAS biological_process
GO:0042176 regulation of protein cat
abolic process
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0043005 neuron projection
IDA cellular_component
GO:0043025 neuronal cell body
IDA cellular_component
GO:0043209 myelin sheath
IEA cellular_component
GO:0043497 regulation of protein het
erodimerization activity
IEA biological_process
GO:0043525 positive regulation of ne
uron apoptotic process
IEA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IEA biological_process
GO:0045177 apical part of cell
IEA cellular_component
GO:0045740 positive regulation of DN
A replication
IEA biological_process
GO:0045859 regulation of protein kin
ase activity
IEA biological_process
GO:0046330 positive regulation of JN
K cascade
IEA biological_process
GO:0046847 filopodium assembly
IEA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048013 ephrin receptor signaling
pathway
TAS biological_process
GO:0048664 neuron fate determination
IEA biological_process
GO:0051017 actin filament bundle ass
embly
IEA biological_process
GO:0051022 Rho GDP-dissociation inhi
bitor binding
IEA molecular_function
GO:0051056 regulation of small GTPas
e mediated signal transdu
ction
TAS biological_process
GO:0051149 positive regulation of mu
scle cell differentiation
TAS biological_process
GO:0051233 spindle midzone
IDA cellular_component
GO:0051489 regulation of filopodium
assembly
IDA biological_process
GO:0051683 establishment of Golgi lo
calization
ISS biological_process
GO:0051835 positive regulation of sy
napse structural plastici
ty
IEA biological_process
GO:0051988 regulation of attachment
of spindle microtubules t
o kinetochore
IMP biological_process
GO:0060047 heart contraction
IEA biological_process
GO:0060070 canonical Wnt signaling p
athway
IEA biological_process
GO:0060071 Wnt signaling pathway, pl
anar cell polarity pathwa
y
NAS biological_process
GO:0060501 positive regulation of ep
ithelial cell proliferati
on involved in lung morph
ogenesis
IEA biological_process
GO:0060661 submandibular salivary gl
and formation
IEA biological_process
GO:0060684 epithelial-mesenchymal ce
ll signaling
IEA biological_process
GO:0060789 hair follicle placode for
mation
IEA biological_process
GO:0061630 ubiquitin protein ligase
activity
IDA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071338 positive regulation of ha
ir follicle cell prolifer
ation
IEA biological_process
GO:0072384 organelle transport along
microtubule
ISS biological_process
GO:0072686 mitotic spindle
IDA cellular_component
GO:0090135 actin filament branching
IEA biological_process
GO:0090136 epithelial cell-cell adhe
sion
IEA biological_process
GO:0090316 positive regulation of in
tracellular protein trans
port
IEA biological_process
GO:1900026 positive regulation of su
bstrate adhesion-dependen
t cell spreading
IDA biological_process
GO:0000139 Golgi membrane
IEA cellular_component
GO:0000139 Golgi membrane
ISS cellular_component
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000322 storage vacuole
IEA cellular_component
GO:0001934 positive regulation of pr
otein phosphorylation
IEA biological_process
GO:0002040 sprouting angiogenesis
IEA biological_process
GO:0003161 cardiac conduction system
development
IEA biological_process
GO:0003334 keratinocyte development
IEA biological_process
GO:0003924 GTPase activity
IEA molecular_function
GO:0003924 GTPase activity
TAS 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: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:0005525 GTP binding
IEA molecular_function
GO:0005525 GTP binding
IEA molecular_function
GO:0005525 GTP binding
IEA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005815 microtubule organizing ce
nter
IEA cellular_component
GO:0005819 spindle
IEA cellular_component
GO:0005829 cytosol
IEA 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:0005856 cytoskeleton
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005911 cell-cell junction
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006897 endocytosis
IEA biological_process
GO:0007015 actin filament organizati
on
IEA biological_process
GO:0007030 Golgi organization
IEA biological_process
GO:0007030 Golgi organization
ISS biological_process
GO:0007088 regulation of mitotic nuc
lear division
IEA biological_process
GO:0007097 nuclear migration
IEA biological_process
GO:0007163 establishment or maintena
nce of cell polarity
TAS biological_process
GO:0007264 small GTPase mediated sig
nal transduction
IEA biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0007596 blood coagulation
TAS biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016337 single organismal cell-ce
ll adhesion
IEA biological_process
GO:0016567 protein ubiquitination
IEA biological_process
GO:0019901 protein kinase binding
IEA molecular_function
GO:0019901 protein kinase binding
IDA molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0021762 substantia nigra developm
ent
IEP biological_process
GO:0030036 actin cytoskeleton organi
zation
IDA biological_process
GO:0030141 secretory granule
IEA cellular_component
GO:0030154 cell differentiation
IEA biological_process
GO:0030175 filopodium
IDA cellular_component
GO:0030225 macrophage differentiatio
n
TAS biological_process
GO:0030307 positive regulation of ce
ll growth
IMP biological_process
GO:0030496 midbody
IEA cellular_component
GO:0030496 midbody
IDA cellular_component
GO:0030742 GTP-dependent protein bin
ding
IEA molecular_function
GO:0031069 hair follicle morphogenes
is
IEA biological_process
GO:0031256 leading edge membrane
IEA cellular_component
GO:0031274 positive regulation of ps
eudopodium assembly
IDA biological_process
GO:0031295 T cell costimulation
TAS biological_process
GO:0031333 negative regulation of pr
otein complex assembly
IPI biological_process
GO:0031424 keratinization
IEA biological_process
GO:0031435 mitogen-activated protein
kinase kinase kinase bin
ding
IEA molecular_function
GO:0031647 regulation of protein sta
bility
IEA biological_process
GO:0031996 thioesterase binding
IPI molecular_function
GO:0032467 positive regulation of cy
tokinesis
IMP biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0034191 apolipoprotein A-I recept
or binding
IPI molecular_function
GO:0034332 adherens junction organiz
ation
IEA biological_process
GO:0034613 cellular protein localiza
tion
IEA biological_process
GO:0035088 establishment or maintena
nce of apical/basal cell
polarity
IEA biological_process
GO:0035264 multicellular organism gr
owth
IEA biological_process
GO:0036336 dendritic cell migration
IEA biological_process
GO:0036464 cytoplasmic ribonucleopro
tein granule
IDA cellular_component
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
TAS biological_process
GO:0042059 negative regulation of ep
idermal growth factor rec
eptor signaling pathway
TAS biological_process
GO:0042176 regulation of protein cat
abolic process
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042995 cell projection
IEA cellular_component
GO:0043005 neuron projection
IDA cellular_component
GO:0043025 neuronal cell body
IDA cellular_component
GO:0043209 myelin sheath
IEA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IEA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IEA biological_process
GO:0043525 positive regulation of ne
uron apoptotic process
IEA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IEA biological_process
GO:0045177 apical part of cell
IEA cellular_component
GO:0045740 positive regulation of DN
A replication
IEA biological_process
GO:0045859 regulation of protein kin
ase activity
IEA biological_process
GO:0046330 positive regulation of JN
K cascade
IEA biological_process
GO:0046847 filopodium assembly
IEA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048013 ephrin receptor signaling
pathway
TAS biological_process
GO:0048664 neuron fate determination
IEA biological_process
GO:0048730 epidermis morphogenesis
IEA biological_process
GO:0051017 actin filament bundle ass
embly
IEA biological_process
GO:0051022 Rho GDP-dissociation inhi
bitor binding
IEA molecular_function
GO:0051056 regulation of small GTPas
e mediated signal transdu
ction
TAS biological_process
GO:0051149 positive regulation of mu
scle cell differentiation
TAS biological_process
GO:0051233 spindle midzone
IDA cellular_component
GO:0051246 regulation of protein met
abolic process
IEA biological_process
GO:0051489 regulation of filopodium
assembly
IDA biological_process
GO:0051647 nucleus localization
IEA biological_process
GO:0051683 establishment of Golgi lo
calization
IEA biological_process
GO:0051683 establishment of Golgi lo
calization
ISS biological_process
GO:0051835 positive regulation of sy
napse structural plastici
ty
IEA biological_process
GO:0051988 regulation of attachment
of spindle microtubules t
o kinetochore
IMP biological_process
GO:0060047 heart contraction
IEA biological_process
GO:0060070 canonical Wnt signaling p
athway
IEA biological_process
GO:0060071 Wnt signaling pathway, pl
anar cell polarity pathwa
y
NAS biological_process
GO:0060501 positive regulation of ep
ithelial cell proliferati
on involved in lung morph
ogenesis
IEA biological_process
GO:0060661 submandibular salivary gl
and formation
IEA biological_process
GO:0060684 epithelial-mesenchymal ce
ll signaling
IEA biological_process
GO:0060789 hair follicle placode for
mation
IEA biological_process
GO:0061630 ubiquitin protein ligase
activity
IDA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071338 positive regulation of ha
ir follicle cell prolifer
ation
IEA biological_process
GO:0071944 cell periphery
IEA cellular_component
GO:0072384 organelle transport along
microtubule
IEA biological_process
GO:0072384 organelle transport along
microtubule
ISS biological_process
GO:0072686 mitotic spindle
IDA cellular_component
GO:0090135 actin filament branching
IEA biological_process
GO:0090136 epithelial cell-cell adhe
sion
IEA biological_process
GO:0090316 positive regulation of in
tracellular protein trans
port
IEA biological_process
GO:1900026 positive regulation of su
bstrate adhesion-dependen
t cell spreading
IDA biological_process
GO:0000139 Golgi membrane
ISS cellular_component
GO:0003924 GTPase activity
TAS 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: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:0005525 GTP binding
IDA molecular_function
GO:0005525 GTP binding
IDA molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
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
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007030 Golgi organization
ISS biological_process
GO:0007163 establishment or maintena
nce of cell polarity
TAS biological_process
GO:0007596 blood coagulation
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0019901 protein kinase binding
IDA molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0021762 substantia nigra developm
ent
IEP biological_process
GO:0030036 actin cytoskeleton organi
zation
IDA biological_process
GO:0030175 filopodium
IDA cellular_component
GO:0030225 macrophage differentiatio
n
TAS biological_process
GO:0030307 positive regulation of ce
ll growth
IMP biological_process
GO:0030496 midbody
IDA cellular_component
GO:0031274 positive regulation of ps
eudopodium assembly
IDA biological_process
GO:0031295 T cell costimulation
TAS biological_process
GO:0031333 negative regulation of pr
otein complex assembly
IPI biological_process
GO:0031996 thioesterase binding
IPI molecular_function
GO:0032467 positive regulation of cy
tokinesis
IMP biological_process
GO:0034191 apolipoprotein A-I recept
or binding
IPI molecular_function
GO:0036464 cytoplasmic ribonucleopro
tein granule
IDA cellular_component
GO:0038096 Fc-gamma receptor signali
ng pathway involved in ph
agocytosis
TAS biological_process
GO:0042059 negative regulation of ep
idermal growth factor rec
eptor signaling pathway
TAS biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0043005 neuron projection
IDA cellular_component
GO:0043025 neuronal cell body
IDA cellular_component
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048013 ephrin receptor signaling
pathway
TAS biological_process
GO:0051056 regulation of small GTPas
e mediated signal transdu
ction
TAS biological_process
GO:0051149 positive regulation of mu
scle cell differentiation
TAS biological_process
GO:0051233 spindle midzone
IDA cellular_component
GO:0051489 regulation of filopodium
assembly
IDA biological_process
GO:0051683 establishment of Golgi lo
calization
ISS biological_process
GO:0051988 regulation of attachment
of spindle microtubules t
o kinetochore
IMP biological_process
GO:0060071 Wnt signaling pathway, pl
anar cell polarity pathwa
y
NAS biological_process
GO:0061630 ubiquitin protein ligase
activity
IDA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072384 organelle transport along
microtubule
ISS biological_process
GO:0072686 mitotic spindle
IDA cellular_component
GO:1900026 positive regulation of su
bstrate adhesion-dependen
t cell spreading
IDA biological_process

KEGG pathways

hsa04144  Endocytosis
hsa04912  GnRH signaling pathway
hsa05130  Pathogenic Escherichia coli infection
hsa04014  Ras signaling pathway
hsa05132  Salmonella infection
hsa05165  Human papillomavirus infection
hsa04370  VEGF signaling pathway
hsa05211  Renal cell carcinoma
hsa04810  Regulation of actin cytoskeleton
hsa05100  Bacterial invasion of epithelial cells
hsa05120  Epithelial cell signaling in Helicobacter pylori infection
hsa04670  Leukocyte transendothelial migration
hsa04530  Tight junction
hsa05212  Pancreatic cancer
hsa05131  Shigellosis
hsa04932  Non-alcoholic fatty liver disease (NAFLD)
hsa04015  Rap1 signaling pathway
hsa04660  T cell receptor signaling pathway
hsa04722  Neurotrophin signaling pathway
hsa04666  Fc gamma R-mediated phagocytosis
hsa04360  Axon guidance
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04062  Chemokine signaling pathway
hsa04520  Adherens junction
hsa04010  MAPK signaling pathway
hsa04510  Focal adhesion
hsa05203  Viral carcinogenesis
hsa05205  Proteoglycans in cancer
hsa05200  Pathways in cancer

Diseases

Associated diseases References
Adenomyosis INFBASE16854417
Endometriosis INFBASE16854417
Takenouchi-Kosaki syndrome OMIM116952

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28171565 Endometrio
sis
Europea
n
7,090 individua
ls (2,594 cases
and 4,496 cont
rols)
CDC42
LINC00339
Show abstract
28171565 Endometrio
sis
rs12038474, rs3820282 Europea
n
7090 (2,594 end
ometriosis, 4,4
96 controls)
LINC00339
CDC4
Show abstract
16854417 Endometrio
sis

52 (24 with ade
nomyosis, 19 wi
th ovarian endo
metriosis, 9 wi
th ovarian cyst
s)

Show abstract