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CD2AP CD2 associated protein [ Homo sapiens (human) ]

Gene ID: 23607, updated on 11-Sep-2019

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
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

Genomic context

See CD2AP in Genome Data Viewer
Location:
6p12.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 uncharacterized LOC105375082 Neighboring gene B3GNTL1 pseudogene 2 Neighboring gene ribosomal protein S12 pseudogene 14 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 pseudogene 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

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
vascular endothelial growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of small GTPase mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
positive regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of actin cytoskeleton reorganization IEA
Inferred from Electronic Annotation
more info
 
regulation of receptor-mediated endocytosis 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 
vesicle organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005248976.1XP_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_017010641.1XP_016866130.1  CD2-associated protein isoform X3

  3. XM_011514449.2XP_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
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