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    CDC42EP2 CDC42 effector protein 2 [ Homo sapiens (human) ]

    Gene ID: 10435, updated on 23-Nov-2021

    Summary

    Official Symbol
    CDC42EP2provided by HGNC
    Official Full Name
    CDC42 effector protein 2provided by HGNC
    Primary source
    HGNC:HGNC:16263
    See related
    Ensembl:ENSG00000149798 MIM:606132
    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
    CEP2; BORG1
    Summary
    CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in fat (RPKM 13.9), gall bladder (RPKM 10.2) and 23 other tissues See more
    Orthologs
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    Genomic context

    See CDC42EP2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65314866..65322417)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65082337..65089888)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 member 20, pseudogene Neighboring gene DNA polymerase alpha 2, accessory subunit Neighboring gene uncharacterized LOC105369344 Neighboring gene double PHD fingers 2 Neighboring gene tigger transposable element derived 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables opioid peptide activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    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
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cdc42 effector protein 2
    Names
    CDC42 effector protein (Rho GTPase binding) 2
    CRIB-containing BOGR1 protein
    binder of Rho GTPases 1

    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.

    mRNA and Protein(s)

    1. NM_006779.4NP_006770.1  cdc42 effector protein 2

      See identical proteins and their annotated locations for NP_006770.1

      Status: REVIEWED

      Source sequence(s)
      AK315444, BC022337
      Consensus CDS
      CCDS8099.1
      UniProtKB/Swiss-Prot
      O14613
      Related
      ENSP00000279249.2, ENST00000279249.3
      Conserved Domains (2) summary
      pfam00786
      Location:2987
      PBD; P21-Rho-binding domain
      pfam14957
      Location:103202
      BORG_CEP; Cdc42 effector

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      65314866..65322417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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