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Search Result

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 accession	Term name	Evidence code	Go 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	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