CDC42 cell division cycle 42 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDC42provided by HGNC
Official Full Name: cell division cycle 42provided by HGNC
Primary source: HGNC:HGNC:1736
See related: Ensembl:ENSG00000070831 MIM:116952; AllianceGenome:HGNC:1736
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TKS; G25K; CDC42Hs
Summary: 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]
Expression: Ubiquitous expression in bone marrow (RPKM 88.8), colon (RPKM 72.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (22052709..22101360)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (21876517..21925101)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (22379202..22427853)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ability and optimal cutoff value of serum cell division cycle 42 in estimating major adverse cardiac event in STEMI patients treated with percutaneous coronary intervention.
Title: The ability and optimal cutoff value of serum cell division cycle 42 in estimating major adverse cardiac event in STEMI patients treated with percutaneous coronary intervention.
MGRN1 depletion promotes intercellular adhesion in melanoma by upregulation of E-cadherin and inhibition of CDC42.
Title: MGRN1 depletion promotes intercellular adhesion in melanoma by upregulation of E-cadherin and inhibition of CDC42.
ROBO1 deficiency impairs HSPC homeostasis and erythropoiesis via CDC42 and predicts poor prognosis in MDS.
Title: ROBO1 deficiency impairs HSPC homeostasis and erythropoiesis via CDC42 and predicts poor prognosis in MDS.
Cell Division Control Protein 42 Facilitates Diabetic Retinopathy Progression by Activating the MEK/ERK Pathway.
Title: Cell Division Control Protein 42 Facilitates Diabetic Retinopathy Progression by Activating the MEK/ERK Pathway.
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Title: A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Title: C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Serum cell division cycle 42 in advanced hepatocellular carcinoma patients: Linkage with clinical characteristics and immune checkpoint inhibitor-related treatment outcomes.
Title: Serum cell division cycle 42 in advanced hepatocellular carcinoma patients: Linkage with clinical characteristics and immune checkpoint inhibitor-related treatment outcomes.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Title: Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Guanine nucleotide exchange factor T exerts the cancer-promoting function in cholangiocarcinoma by enhancing the Wnt-GSK-3beta-beta-catenin cascade via regulation of Rac1/Cdc42.
Title: Guanine nucleotide exchange factor T exerts the cancer-promoting function in cholangiocarcinoma by enhancing the Wnt-GSK-3β-β-catenin cascade via regulation of Rac1/Cdc42.
Spatiotemporal Coordination of Rac1 and Cdc42 at the Whole Cell Level during Cell Ruffling.
Title: Spatiotemporal Coordination of Rac1 and Cdc42 at the Whole Cell Level during Cell Ruffling.

Submit: New GeneRIF Correction See all GeneRIFs (441)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MedGen: C4225222 OMIM: 616737 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 activates CDC42 in monocyte derived dendritic cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	SLIT2N, an active fragment of SLIT2, inhibits M-tropic HIV-1 gp120-induced Src signaling and activation of its downstream targets Pyk2, CDC42, Rac1, and paxillin in immature monocyte-derived dendritic cells	PubMed
	env	DC-SIGN engagement by HIV-1 gp120 on dendritic cell (DC) surface subsequently activates Cdc42, Pak1, and Wasp, leading to an increase in membrane extensions at the DC surface	PubMed
Nef	nef	HIV-1 Nef enhances the expression of CDC42 in human podocyte	PubMed
	nef	The activation of Nef-associated kinase (NAK; also known as p21-activated kinase 1 or PAK1) by HIV-1 Nef is via the small GTPases Cdc42 and Rac1, suggesting an interaction between Nef and these GTPases	PubMed
	nef	HIV-1 Nef inhibits the concomitant activation of the actin organizer N-Wasp by interfering with the translocation of N-Wasp to the cell periphery and blocks morphological changes induced by the known N-Wasp regulators Rac1 and Cdc42	PubMed
	nef	HIV-1 Nef treatment upregulates active CDC42 levels in dendritic cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57553 (e-PCR)
- UniSTS:71941

D11S2921 (e-PCR)
- UniSTS:152074

RH69132 (e-PCR)
- UniSTS:30736

GDB:636131 (e-PCR)
- UniSTS:158530

CDC42_1530 (e-PCR)
- UniSTS:277081

G15855 (e-PCR)
- UniSTS:76175

A009S40 (e-PCR)
- UniSTS:6545

G22163 (e-PCR)
- UniSTS:22680

SHGC-12429 (e-PCR)
- UniSTS:40859

G32824 (e-PCR)
- UniSTS:117403

CDC42 (e-PCR)
- UniSTS:278181

WI-18965 (e-PCR)
- UniSTS:82105

SHGC-74349 (e-PCR)
- UniSTS:58308

UniSTS:224478 (e-PCR)
- UniSTS:224478

G34846 (e-PCR)
- UniSTS:72173

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GBD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables apolipoprotein A-I receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mitogen-activated protein kinase kinase kinase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables thioesterase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Cdc42 protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament branching	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adherens junction organization	IEA Inferred from Electronic Annotation more info
involved_in cardiac conduction system development	IEA Inferred from Electronic Annotation more info
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in dendritic cell migration	IEA Inferred from Electronic Annotation more info
involved_in dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic heart tube development	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endothelin receptor signaling pathway involved in heart process	IEA Inferred from Electronic Annotation more info
involved_in establishment of Golgi localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in filopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in heart contraction	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in macrophage differentiation	TAS Traceable Author Statement more info	PubMed
involved_in modification of synaptic structure	IEA Inferred from Electronic Annotation more info
involved_in modulation by host of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein-containing complex assembly	IPI Inferred from Physical Interaction more info	PubMed
involved_in neuron fate determination	IEA Inferred from Electronic Annotation more info
involved_in neuropilin signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear migration	IEA Inferred from Electronic Annotation more info
involved_in organelle transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in phagocytosis, engulfment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA replication	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of pinocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of pseudopodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synapse structural plasticity	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of attachment of spindle microtubules to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of filopodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of lamellipodium assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mitotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in regulation of modification of postsynaptic structure	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of stress fiber assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in submandibular salivary gland formation	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of Golgi transport complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in leading edge membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	IEA Inferred from Electronic Annotation more info
located_in spindle midzone	IDA Inferred from Direct Assay more info	PubMed
located_in storage vacuole	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cell division control protein 42 homolog

Names: 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

NP_001034891.1

EC 3.6.5.2

NP_001782.1

EC 3.6.5.2

NP_426359.1

EC 3.6.5.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047042.3 RefSeqGene

Range

32199..80850

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1326

mRNA and Protein(s)

NM_001039802.2 → NP_001034891.1 cell division control protein 42 homolog isoform 1 precursor

See identical proteins and their annotated locations for NP_001034891.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AL031281, BC018266

Consensus CDS

CCDS221.1

UniProtKB/Swiss-Prot

P21181, P25763, P60953, Q7L8R5, Q9UDI2

UniProtKB/TrEMBL

A0A590UJK8

Related

ENSP00000341072.3, ENST00000344548.8

Conserved Domains (1) summary

cd01874
Location:3 → 177

Cdc42; cell division cycle 42 (Cdc42) is a small GTPase of the Rho family
NM_001791.4 → NP_001782.1 cell division control protein 42 homolog isoform 1 precursor

See identical proteins and their annotated locations for NP_001782.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform (1). Variants 1 and 3 encode the same isoform. Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.

Source sequence(s)

AL031281, AL121735, BC003682

Consensus CDS

CCDS221.1

UniProtKB/Swiss-Prot

P21181, P25763, P60953, Q7L8R5, Q9UDI2

UniProtKB/TrEMBL

A0A590UJK8

Related

ENSP00000499457.1, ENST00000656825.1

Conserved Domains (1) summary

cd01874
Location:3 → 177

Cdc42; cell division cycle 42 (Cdc42) is a small GTPase of the Rho family
NM_044472.3 → NP_426359.1 cell division control protein 42 homolog isoform 2

See identical proteins and their annotated locations for NP_426359.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a novel 3' structure, resulting in a distinct 3' coding region compared to variant 1. The encoded isoform (2) is the same length as isoform 1 but has a distinct protein sequence.

Source sequence(s)

AL031281

Consensus CDS

CCDS222.1

UniProtKB/TrEMBL

A0A590UJK8

Related

ENSP00000314458.8, ENST00000315554.15

Conserved Domains (1) summary

cd01874
Location:3 → 177

Cdc42; cell division cycle 42 (Cdc42) is a small GTPase of the Rho family