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CD2AP CD2-associated protein [ Homo sapiens (human) ]

Gene ID: 23607, updated on 22-Nov-2014
Official Symbol
CD2APprovided by HGNC
Official Full Name
CD2-associated proteinprovided by HGNC
Primary source
HGNC:HGNC:14258
See related
Ensembl:ENSG00000198087; HPRD:05026; MIM:604241; Vega:OTTHUMG00000014799
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]
See CD2AP in Epigenomics, MapViewer
Location:
6p12
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (47477746..47627263)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (47445482..47594999)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 110 Neighboring gene tumor necrosis factor receptor superfamily, member 21 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 17 pseudogene Neighboring gene ribosomal protein S12 pseudogene 14 Neighboring gene G protein-coupled receptor 111 Neighboring gene G protein-coupled receptor 115

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Focal segmental glomerulosclerosis 3, susceptibility to
MedGen: C1842982 OMIM: 607832 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
NHGRI GWA Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp586H0519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transforming growth factor beta1 production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of actin cytoskeleton reorganization IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
substrate-dependent cell migration, cell extension TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
CD2-associated protein
Names
CD2-associated protein
adapter protein CMS
cas ligand with multiple SH3 domains
Cas ligand with multiple Src homology 3 (SH3) domains

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 

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

mRNA and Protein(s)

  1. NM_012120.2NP_036252.1  CD2-associated protein

    See proteins identical to NP_036252.1

    Status: REVIEWED

    Source sequence(s)
    AL355353, AL356421, AL358178, BC069444, BU679191, DA040834
    Consensus CDS
    CCDS34472.1
    UniProtKB/Swiss-Prot
    Q9Y5K6
    Related
    ENSP00000352264, OTTHUMP00000016562, ENST00000359314, OTTHUMT00000040817
    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: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    47172874..47322780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    47477746..47627263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248976.1XP_005249033.1  

    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_005248977.1XP_005249034.1  

    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

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    47448327..47597835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)