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

    Gene ID: 998, updated on 5-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDC42 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22052709..22101360)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21876517..21925101)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22379202..22427853)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chymotrypsin like elastase 3A Neighboring gene RNA, U6 small nuclear 776, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 393 Neighboring gene Sharpr-MPRA regulatory region 3950 Neighboring gene long intergenic non-protein coding RNA 1635 Neighboring gene long intergenic non-protein coding RNA 339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 347 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:22379623-22380190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22380191-22380759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22387820-22388320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22388321-22388821 Neighboring gene MPHOSPH6 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 348 Neighboring gene Sharpr-MPRA regulatory region 8542 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22446773-22447390 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22448010-22448627 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22457824-22458584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22458585-22459343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22459683-22460408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22462663-22463176 Neighboring gene Wnt family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22465050-22466004 Neighboring gene uncharacterized LOC105376845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 400 Neighboring gene uncharacterized LOC105376850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22498925-22499424

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 cell polarity IBA
    Inferred from Biological aspect of Ancestor
    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 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 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 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 endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion HDA 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 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

    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
    NP_001782.1
    NP_426359.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_047042.3 RefSeqGene

      Range
      32199..80850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1326

    mRNA and Protein(s)

    1. NM_001039802.2NP_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:3177
      Cdc42; cell division cycle 42 (Cdc42) is a small GTPase of the Rho family
    2. NM_001791.4NP_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:3177
      Cdc42; cell division cycle 42 (Cdc42) is a small GTPase of the Rho family
    3. NM_044472.3NP_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:3177
      Cdc42; cell division cycle 42 (Cdc42) is a small GTPase of the Rho family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      22052709..22101360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21876517..21925101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)