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    CD2AP CD2 associated protein [ Homo sapiens (human) ]

    Gene ID: 23607, updated on 7-Sep-2023

    Summary

    Official Symbol
    CD2APprovided by HGNC
    Official Full Name
    CD2 associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:14258
    See related
    Ensembl:ENSG00000198087 MIM:604241; AllianceGenome:HGNC:14258
    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
    CMS
    Summary
    This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in small intestine (RPKM 31.9), duodenum (RPKM 29.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CD2AP in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (47477789..47627263)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (47318653..47468952)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (47445525..47594999)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375082 Neighboring gene B3GNTL1 pseudogene 2 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3292 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:47411751-47412484 Neighboring gene Sharpr-MPRA regulatory region 15024 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:47446083-47446809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:47464500-47465069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:47465070-47465638 Neighboring gene Sharpr-MPRA regulatory region 13557 Neighboring gene ribosomal protein S12 pseudogene 14 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:47589053-47590252 Neighboring gene adhesion G protein-coupled receptor F2 Neighboring gene adhesion G protein-coupled receptor F4 Neighboring gene RN7SK pseudogene 116

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Focal segmental glomerulosclerosis 3, susceptibility to
    MedGen: C1842982 OMIM: 607832 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated CD2-associated protein (CD2AP) protein is incorporated into HIV-1 Gag virus-like particles 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

    Clone Names

    • DKFZp586H0519

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of small GTPase mediated signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in substrate-dependent cell migration, cell extension TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    is_active_in cell leading edge IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    part_of filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuromuscular junction 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
     
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    CD2-associated protein
    Names
    Cas ligand with multiple Src homology (SH) 3 domains
    Cas ligand with multiple Src homology 3 (SH3) domains
    adapter protein CMS
    cas ligand with multiple SH3 domains

    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_008878.1 RefSeqGene

      Range
      5001..154475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012120.3NP_036252.1  CD2-associated protein

      See identical proteins and their annotated locations for NP_036252.1

      Status: REVIEWED

      Source sequence(s)
      AL355353, AL356421, AL358178, BC069444, BU679191, DA040834
      Consensus CDS
      CCDS34472.1
      UniProtKB/Swiss-Prot
      A6NL34, Q5VYA3, Q9UG97, Q9Y5K6
      Related
      ENSP00000352264.5, ENST00000359314.5
      Conserved Domains (3) summary
      cd12053
      Location:358
      SH3_CD2AP_1; First Src Homology 3 domain (SH3A) of CD2-associated protein
      cd12054
      Location:111165
      SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein
      cd12056
      Location:271327
      SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      47477789..47627263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248976.2XP_005249033.1  CD2-associated protein isoform X1

      Conserved Domains (3) summary
      cd12053
      Location:358
      SH3_CD2AP_1; First Src Homology 3 domain (SH3A) of CD2-associated protein
      cd12054
      Location:111165
      SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein
      cd12056
      Location:267323
      SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein
    2. XM_017010641.2XP_016866130.1  CD2-associated protein isoform X3

    3. XM_011514449.3XP_011512751.1  CD2-associated protein isoform X2

      Conserved Domains (2) summary
      cd12054
      Location:62116
      SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein
      cd12056
      Location:222278
      SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      47318653..47468952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354982.1XP_054210957.1  CD2-associated protein isoform X1

    2. XM_054354984.1XP_054210959.1  CD2-associated protein isoform X3

    3. XM_054354983.1XP_054210958.1  CD2-associated protein isoform X2