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CD2AP CD2 associated protein [ Homo sapiens (human) ]

Gene ID: 23607, updated on 17-Jun-2024

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
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Genomic context

See CD2AP in Genome Data Viewer
Location:
6p12.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (47477789..47627263)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 24660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24662 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 MPRA-validated peak5833 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17275 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:47446083-47446809 Neighboring gene CD2AP divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:47464500-47465069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:47465070-47465638 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:47468840-47469047 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 actin filament binding IEA
Inferred from Electronic Annotation
more info
 
enables cadherin binding HDA PubMed 
enables clathrin binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables phosphatidylinositol 3-kinase regulatory subunit binding IEA
Inferred from Electronic Annotation
more info
 
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 ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in Rab protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process 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
 
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell adhesion mediated by cadherin IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
 
involved_in collateral sprouting IEA
Inferred from Electronic Annotation
more info
 
involved_in endothelium development IEA
Inferred from Electronic Annotation
more info
 
involved_in filopodium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose import IEA
Inferred from Electronic Annotation
more info
 
involved_in immunological synapse formation IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
 
involved_in localization of cell IEA
Inferred from Electronic Annotation
more info
 
involved_in lymph node development IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of blood-brain barrier IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane organization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 nerve growth factor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in podocyte differentiation 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 catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
 
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 regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
involved_in renal albumin absorption IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glial cell derived neurotrophic factor IEA
Inferred from Electronic Annotation
more info
 
involved_in response to insulin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
involved_in response to transforming growth factor beta IEA
Inferred from Electronic Annotation
more info
 
involved_in response to virus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to wounding IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in stress-activated MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
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
 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
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 growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome IEA
Inferred from Electronic Annotation
more info
 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear envelope lumen 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
 
located_in podosome IEA
Inferred from Electronic Annotation
more info
 
located_in ruffle IDA
Inferred from Direct Assay
more info
PubMed 
located_in slit diaphragm IEA
Inferred from Electronic Annotation
more info
 
located_in trans-Golgi network membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 

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_10

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