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

    Gene ID: 10435, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:16263
    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
    NEW
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    Genomic context

    See CDC42EP2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65314866..65322417)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65308188..65315743)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65082337..65089888)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64981240-64982155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64984183-64984746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64984747-64985310 Neighboring gene solute carrier family 22 member 20, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64989237-64989466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4951 Neighboring gene MPRA-validated peak1301 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:65011321-65011846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65028571-65029458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65029459-65030344 Neighboring gene DNA polymerase alpha 2, accessory subunit Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65046741-65047940 Neighboring gene uncharacterized LOC105369344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65068776-65069313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65069314-65069850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65077439-65078046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65078047-65078654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3515 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65086579-65086802 Neighboring gene uncharacterized LOC124902691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65104413-65104913 Neighboring gene double PHD fingers 2

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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)

    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.

    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
      B2RD85, O14613, Q9UNS0
      UniProtKB/TrEMBL
      B3KUZ5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047426244.1XP_047282200.1  cdc42 effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RD85, O14613, Q9UNS0
      UniProtKB/TrEMBL
      B3KUZ5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65308188..65315743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367458.1XP_054223433.1  cdc42 effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RD85, O14613, Q9UNS0
      UniProtKB/TrEMBL
      B3KUZ5