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    CDC42EP4 CDC42 effector protein 4 [ Homo sapiens (human) ]

    Gene ID: 23580, updated on 3-Nov-2024

    Summary

    Official Symbol
    CDC42EP4provided by HGNC
    Official Full Name
    CDC42 effector protein 4provided by HGNC
    Primary source
    HGNC:HGNC:17147
    See related
    Ensembl:ENSG00000179604 MIM:605468; AllianceGenome:HGNC:17147
    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
    CEP4; BORG4; KAIA1777
    Summary
    The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 35.1), brain (RPKM 34.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CDC42EP4 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (73283624..73312001, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (74173348..74201822, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (71279763..71308140, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:71227250-71228026 Neighboring gene component of oligomeric golgi complex 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12692 Neighboring gene VCP nuclear cofactor family member 1 Neighboring gene mitochondrial nucleoid associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12693 Neighboring gene cleavage and polyadenylation specific factor 4 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71280886-71281442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71281998-71282553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71282554-71283108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12695 Neighboring gene Sharpr-MPRA regulatory region 4436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71287907-71288788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71314086-71314838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71332871-71333770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71343461-71344310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71348097-71348598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71348599-71349098 Neighboring gene Sharpr-MPRA regulatory region 1327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71357197-71357868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71359686-71360661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71361126-71361628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71375179-71375680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71376229-71376730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71376731-71377230 Neighboring gene sidekick cell adhesion molecule 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71396825-71397329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71397330-71397833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71434193-71434693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12699 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71487500-71488358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71488359-71489217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71501870-71502807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71503745-71504682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71507033-71507902 Neighboring gene uncharacterized LOC101928251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71530725-71531437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71533005-71533777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71536899-71537463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71542356-71542892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71544460-71544960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71544961-71545461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71556405-71557010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71557011-71557617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71560304-71560804 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:71561780-71562370 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:71562371-71562960 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71563551-71564139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71584531-71585034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71585035-71585539 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:71585540-71586043 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:71586044-71586548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71591289-71591834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:71608178-71608714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71621555-71622080 Neighboring gene uncharacterized LOC124904054

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3740, MGC17125

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of pseudopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of pseudopodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    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
     

    General protein information

    Preferred Names
    cdc42 effector protein 4
    Names
    CDC42 effector protein (Rho GTPase binding) 4
    binder of Rho GTPases 4

    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_012121.5NP_036253.2  cdc42 effector protein 4

      See identical proteins and their annotated locations for NP_036253.2

      Status: REVIEWED

      Source sequence(s)
      BC002774, BC010451, BI560730
      Consensus CDS
      CCDS11695.1
      UniProtKB/Swiss-Prot
      B3KUS7, O95828, Q96FT3, Q9H3Q1
      UniProtKB/TrEMBL
      B2R6D8
      Related
      ENSP00000338258.3, ENST00000335793.4
      Conserved Domains (2) summary
      pfam00786
      Location:2668
      PBD; P21-Rho-binding domain
      pfam14957
      Location:112228
      BORG_CEP; Cdc42 effector

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      73283624..73312001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257182.3XP_005257239.1  cdc42 effector protein 4 isoform X1

      See identical proteins and their annotated locations for XP_005257239.1

      UniProtKB/Swiss-Prot
      B3KUS7, O95828, Q96FT3, Q9H3Q1
      UniProtKB/TrEMBL
      B2R6D8
      Conserved Domains (2) summary
      pfam00786
      Location:2668
      PBD; P21-Rho-binding domain
      pfam14957
      Location:112228
      BORG_CEP; Cdc42 effector

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      74173348..74201822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315635.1XP_054171610.1  cdc42 effector protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KUS7, O95828, Q96FT3, Q9H3Q1
      UniProtKB/TrEMBL
      B2R6D8