Manteia

ENSG00000070831

Homo sapiens

Features

Gene ID:	ENSG00000070831

Biological name :	CDC42

Synonyms :	CDC42 / cell division cycle 42 / P60953

Possible biological names infered from orthology :

Species:	Homo sapiens

Chr. number:	1
Strand:	1
Band:	p36.12
Gene start:	22052627
Gene end:	22092946

Corresponding Affymetrix probe sets:	208727_s_at (Human Genome U133 Plus 2.0 Array) 208728_s_at (Human Genome U133 Plus 2.0 Array) 210232_at (Human Genome U133 Plus 2.0 Array) 214230_at (Human Genome U133 Plus 2.0 Array) 226400_at (Human Genome U133 Plus 2.0 Array)

Cross references:	Ensembl peptide - ENSP00000383118 Ensembl peptide - ENSP00000398327 Ensembl peptide - ENSP00000314458 Ensembl peptide - ENSP00000341072 NCBI entrez gene - 998 See in Manteia. OMIM - 116952 RefSeq - NM_001039802 RefSeq - NM_001791 RefSeq - NM_044472 RefSeq Peptide - NP_001782 RefSeq Peptide - NP_001034891 RefSeq Peptide - NP_426359 swissprot - P60953 swissprot - A0A024RAE4 swissprot - Q5JYX0 swissprot - A0A024RAE6 Ensembl - ENSG00000070831

Related genetic diseases (OMIM):	616737 - Takenouchi-Kosaki syndrome, 616737

See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
cdc42	ENSDARG00000044573	Danio rerio
CDC42	ENSGALG00000004796	Gallus gallus

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
RAC1 / P63000 / Rac family small GTPase 1	ENSG00000136238	71
RAC3 / P60763 / Rac family small GTPase 3	ENSG00000169750	69
RAC2 / P15153 / Rac family small GTPase 2	ENSG00000128340	69
RHOQ / P17081 / ras homolog family member Q	ENSG00000119729	67
RHOJ / Q9H4E5 / ras homolog family member J	ENSG00000126785	62
RHOG / P84095 / ras homolog family member G	ENSG00000177105	61
RHOU / Q7L0Q8 / ras homolog family member U	ENSG00000116574	58
RHOV / Q96L33 / ras homolog family member V	ENSG00000104140	53
O94844 / RHOBTB1 / Rho related BTB domain containing 1	ENSG00000072422	41
Q9BYZ6 / RHOBTB2 / Rho related BTB domain containing 2	ENSG00000008853	40

Protein motifs (from Interpro)

Interpro ID	Name
IPR001806	Small GTPase superfamily
IPR003578	Small GTPase superfamily, Rho type
IPR005225	Small GTP-binding protein domain
IPR027417	P-loop containing nucleoside triphosphate hydrolase

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006468	protein phosphorylation	IEA
biological_process	GO:0006911	phagocytosis, engulfment	IMP
biological_process	GO:0007015	actin filament organization	IMP
biological_process	GO:0007030	Golgi organization	ISS
biological_process	GO:0007163	establishment or maintenance of cell polarity	TAS
biological_process	GO:0007229	integrin-mediated signaling pathway	IMP
biological_process	GO:0007264	small GTPase mediated signal transduction	IEA
biological_process	GO:0007399	nervous system development	IEA
biological_process	GO:0007596	blood coagulation	TAS
biological_process	GO:0010591	regulation of lamellipodium assembly	IGI
biological_process	GO:0010592	positive regulation of lamellipodium assembly	IMP
biological_process	GO:0016567	protein ubiquitination	IEA
biological_process	GO:0021762	substantia nigra development	HEP
biological_process	GO:0030036	actin cytoskeleton organization	IDA
biological_process	GO:0030154	cell differentiation	IEA
biological_process	GO:0030225	macrophage differentiation	TAS
biological_process	GO:0030307	positive regulation of cell growth	IMP
biological_process	GO:0031274	positive regulation of pseudopodium assembly	IDA
biological_process	GO:0031295	T cell costimulation	TAS
biological_process	GO:0031333	negative regulation of protein complex assembly	IPI
biological_process	GO:0032467	positive regulation of cytokinesis	IMP
biological_process	GO:0034329	cell junction assembly	IMP
biological_process	GO:0035722	interleukin-12-mediated signaling pathway	TAS
biological_process	GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
biological_process	GO:0038189	neuropilin signaling pathway	IMP
biological_process	GO:0039694	viral RNA genome replication	IMP
biological_process	GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS
biological_process	GO:0045198	establishment of epithelial cell apical/basal polarity	IMP
biological_process	GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS
biological_process	GO:0048013	ephrin receptor signaling pathway	TAS
biological_process	GO:0051056	regulation of small GTPase mediated signal transduction	TAS
biological_process	GO:0051149	positive regulation of muscle cell differentiation	TAS
biological_process	GO:0051301	cell division	IEA
biological_process	GO:0051489	regulation of filopodium assembly	IDA
biological_process	GO:0051491	positive regulation of filopodium assembly	ISS
biological_process	GO:0051492	regulation of stress fiber assembly	IGI
biological_process	GO:0051496	positive regulation of stress fiber assembly	IMP
biological_process	GO:0051683	establishment of Golgi localization	ISS
biological_process	GO:0051988	regulation of attachment of spindle microtubules to kinetochore	IMP
biological_process	GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
biological_process	GO:0060997	dendritic spine morphogenesis	ISS
biological_process	GO:0072384	organelle transport along microtubule	ISS
biological_process	GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IDA
biological_process	GO:2000251	positive regulation of actin cytoskeleton reorganization	IMP
cellular_component	GO:0000139	Golgi membrane	ISS
cellular_component	GO:0005622	intracellular	IEA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005789	endoplasmic reticulum membrane	TAS
cellular_component	GO:0005813	centrosome	IDA
cellular_component	GO:0005815	microtubule organizing center	IEA
cellular_component	GO:0005819	spindle	IEA
cellular_component	GO:0005829	cytosol	TAS
cellular_component	GO:0005856	cytoskeleton	IEA
cellular_component	GO:0005886	plasma membrane	TAS
cellular_component	GO:0005925	focal adhesion	HDA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0017119	Golgi transport complex	IMP
cellular_component	GO:0030175	filopodium	IDA
cellular_component	GO:0030496	midbody	IEA
cellular_component	GO:0032991	protein-containing complex	IDA
cellular_component	GO:0036464	cytoplasmic ribonucleoprotein granule	IDA
cellular_component	GO:0043005	neuron projection	IDA
cellular_component	GO:0043025	neuronal cell body	IDA
cellular_component	GO:0043197	dendritic spine	IDA
cellular_component	GO:0051233	spindle midzone	IDA
cellular_component	GO:0070062	extracellular exosome	HDA
cellular_component	GO:0072686	mitotic spindle	IDA
molecular_function	GO:0000166	nucleotide binding	IEA
molecular_function	GO:0003924	GTPase activity	TAS
molecular_function	GO:0004674	protein serine/threonine kinase activity	TAS
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0005525	GTP binding	IDA
molecular_function	GO:0019901	protein kinase binding	IDA
molecular_function	GO:0031996	thioesterase binding	IPI
molecular_function	GO:0032427	GBD domain binding	IPI
molecular_function	GO:0034191	apolipoprotein A-I receptor binding	IPI
molecular_function	GO:0042802	identical protein binding	IPI
molecular_function	GO:0061630	ubiquitin protein ligase activity	IDA

Pathways (from Reactome)

Pathway description

GPVI-mediated activation cascade

EGFR downregulation

Rho GTPase cycle

Regulation of actin dynamics for phagocytic cup formation

CDO in myogenesis

CD28 dependent Vav1 pathway

EPHB-mediated forward signaling

G alpha (12/13) signalling events

DCC mediated attractive signaling

Inactivation of CDC42 and RAC1

VEGFA-VEGFR2 Pathway

RHO GTPases activate KTN1

RHO GTPases activate IQGAPs

RHO GTPases activate PAKs

RHO GTPases Activate WASPs and WAVEs

RHO GTPases Activate Formins

MAPK6/MAPK4 signaling

Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

Factors involved in megakaryocyte development and platelet production

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
HP:0000023	Inguinal hernia		Show
HP:0000219	Thin upper lip		Show
HP:0000253	Microcephaly, progressive	"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators]	Show
HP:0000322	Short philtrum		Show
HP:0000407	Hearing loss, sensorineural	"Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]	Show
HP:0000508	Ptosis	"Drooping of the eyelid." [HPO:curators]	Show
HP:0000577	Exotropia		Show
HP:0000689	Dental malocclusion	"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]	Show
HP:0001004	Lymphedema		Show
HP:0001251	Ataxia	"Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]	Show
HP:0001263	Developmental retardation	"A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]	Show
HP:0001272	Cerebellar atrophy		Show
HP:0001643	Patent ductus arteriosus		Show
HP:0002119	Ventriculomegaly		Show
HP:0002553	Arched eyebrows		Show
HP:0007655	Eversion of lateral third of lower eyelids		Show
HP:0011800	Midface retrusion	"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]	Show
HP:0011877	Increased mean platelet volume	"Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand]	Show
HP:0012385	Camptodactyly	"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson]	Show

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSG00000065320	NTN1 / O95631 / netrin 1	/ complex / reaction
ENSG00000090776	EFNB1 / P98172 / ephrin B1	/ reaction / complex
ENSG00000188130	MAPK12 / P53778 / mitogen-activated protein kinase 12	/ complex / reaction
ENSG00000010810	FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase	/ complex / reaction
ENSG00000108947	EFNB3 / Q15768 / ephrin B3	/ reaction / complex
ENSG00000106299	WASL / O00401 / Wiskott-Aldrich syndrome like	/ complex / reaction
ENSG00000125266	EFNB2 / P52799 / ephrin B2	/ complex / reaction
ENSG00000112062	MAPK14 / Q16539 / mitogen-activated protein kinase 14	/ reaction / complex
ENSG00000071051	NCK2 / O43639 / NCK adaptor protein 2	/ complex / reaction
ENSG00000112715	VEGFA / P15692 / vascular endothelial growth factor A	/ complex / reaction
ENSG00000122574	WIPF3 / A6NGB9 / WAS/WASL interacting protein family member 3	/ reaction
ENSG00000077264	PAK3 / O75914 / p21 (RAC1) activated kinase 3	/ reaction / complex
ENSG00000128052	KDR / P35968 / kinase insert domain receptor	/ complex / reaction
ENSG00000064309	CDON / Q4KMG0 / cell adhesion associated, oncogene regulated	/ complex / reaction
ENSG00000138798	EGF / P01133 / epidermal growth factor	/ complex
ENSG00000110395	CBL / P22681 / Cbl proto-oncogene	/ complex / reaction
ENSG00000129910	CDH15 / P55291 / cadherin 15	/ complex / reaction
ENSG00000146648	EGFR / P00533 / epidermal growth factor receptor	/ complex
ENSG00000170558	CDH2 / P19022 / cadherin 2	/ complex / reaction
ENSG00000158092	NCK1 / P16333 / NCK adaptor protein 1	/ reaction / complex
ENSG00000141968	VAV1 / P15498 / vav guanine nucleotide exchange factor 1	/ reaction
ENSG00000149269	PAK1 / Q13153 / p21 (RAC1) activated kinase 1	/ reaction / complex
ENSG00000150760	DOCK1 / Q14185 / dedicator of cytokinesis 1	/ complex / reaction
ENSG00000044115	CTNNA1 / P35221 / catenin alpha 1	/ complex / reaction
ENSG00000140299	BNIP2 / Q12982 / BCL2 interacting protein 2	/ complex / reaction
ENSG00000130779	CLIP1 / P30622 / CAP-Gly domain containing linker protein 1	/ reaction / complex
ENSG00000187323	DCC / P43146 / DCC netrin 1 receptor	/ complex / reaction
ENSG00000213672	Q9NZQ3 / NCKIPSD / NCK interacting protein with SH3 domain	/ reaction
ENSG00000144857	BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulated	/ complex / reaction
ENSG00000157827	FMNL2 / Q96PY5 / formin like 2	/ complex / reaction
ENSG00000115935	WIPF1 / O43516 / WAS/WASL interacting protein family member 1	/ reaction
ENSG00000184922	FMNL1 / O95466 / formin like 1	/ reaction / complex
ENSG00000038382	TRIO / O75962 / trio Rho guanine nucleotide exchange factor	/ complex / reaction
ENSG00000177885	GRB2 / P62993 / growth factor receptor bound protein 2	/ reaction / complex
ENSG00000147202	DIAPH2 / O60879 / diaphanous related formin 2	/ complex / reaction
ENSG00000126777	KTN1 / Q86UP2 / kinectin 1	/ reaction / complex
ENSG00000097007	ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinase	/ complex / reaction
ENSG00000140575	IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1	/ complex / reaction
ENSG00000174996	KLC2 / Q9H0B6 / kinesin light chain 2	/ complex / reaction
ENSG00000184009	ACTG1 / P63261 / actin gamma 1	/ reaction / complex
ENSG00000145703	IQGAP2 / Q13576 / IQ motif containing GTPase activating protein 2	/ complex / reaction
ENSG00000183856	IQGAP3 / Q86VI3 / IQ motif containing GTPase activating protein 3	/ reaction / complex
ENSG00000102606	Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7	/ reaction / complex
ENSG00000155980	KIF5A / Q12840 / kinesin family member 5A	/ reaction / complex
ENSG00000075624	ACTB / P60709 / actin beta	/ complex / reaction
ENSG00000126214	KLC1 / Q07866 / kinesin light chain 1	/ complex / reaction
ENSG00000180370	PAK2 / Q13177 / p21 (RAC1) activated kinase 2	/ reaction / complex
ENSG00000070831	CDC42 / P60953 / cell division cycle 42	/ reaction / complex
ENSG00000008294	SPAG9 / O60271 / sperm associated antigen 9	/ complex / reaction
ENSG00000171475	WIPF2 / Q8TF74 / WAS/WASL interacting protein family member 2	/ reaction
ENSG00000169398	PTK2 / Q05397 / protein tyrosine kinase 2	/ complex / reaction
ENSG00000066032	CTNNA2 / P26232 / catenin alpha 2	/ reaction / complex
ENSG00000185386	MAPK11 / Q15759 / mitogen-activated protein kinase 11	/ complex / reaction
ENSG00000198668	CALM1 / P0DP23 / calmodulin 1	/ reaction / complex
ENSG00000168036	CTNNB1 / P35222 / catenin beta 1	/ reaction / complex
ENSG00000197122	SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase	/ complex / reaction
ENSG00000196220	O43295 / SRGAP3 / SLIT-ROBO Rho GTPase activating protein 3	/ reaction
ENSG00000196935	Q7Z6B7 / SRGAP1 / SLIT-ROBO Rho GTPase activating protein 1	/ reaction
ENSG00000015285	WAS / P42768 / Wiskott-Aldrich syndrome	/ reaction / complex
ENSG00000205726	ITSN1 / Q15811 / intersectin 1	/ complex / reaction
ENSG00000266028	O75044 / SRGAP2 / SLIT-ROBO Rho GTPase activating protein 2	/ reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr