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

    Gene ID: 23607, updated on 5-May-2013
    Official Symbol
    CD2APprovided by HGNC
    Official Full Name
    CD2-associated proteinprovided by HGNC
    Primary source
    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]
    Location :
    6p12
    Sequence :
    Chromosome: 6; NC_000006.11 (47445525..47594999)
    See CD2AP in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic 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

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Adaptor protein complex of FRS2β and CIN85/CD2AP provides a novel mechanism for ErbB2/HER2 protein downregulation. Minegishi Y, et al. Cancer Sci, 2013 Mar. PMID 23279575.
    2. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    3. Transcriptional activation of the human CD2AP promoter by E2F1. Zou L, et al. PLoS One, 2012. PMID 22880102.
    4. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883.
    5. Comprehensive analysis of interactions between the Src-associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. Asbach B, et al. PLoS One, 2012. PMID 22745667.

    See all (71) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. an FRS2beta-CIN85/CD2AP-Cbl axis for downregulation of ErbB2 may regulate ErbB2 protein levels in physiological and pathological settings
      Title: Adaptor protein complex of FRS2β and CIN85/CD2AP provides a novel mechanism for ErbB2/HER2 protein downregulation.
    2. E2F1 up-regulates the human CD2AP promoter.
      Title: Transcriptional activation of the human CD2AP promoter by E2F1.
    3. CD2AP is highly expressed in human plasmacytoid dendritic cells (DC) and positively regulates blood DC antigen 2 (BDCA2)/Fc fragment of IgE high affinity I receptor (FcepsilonR1gamma) signaling.
      Title: CD2AP/SHIP1 complex positively regulates plasmacytoid dendritic cell receptor signaling by inhibiting the E3 ubiquitin ligase Cbl.
    4. identifies CD2AP as the gatekeeper of the podocyte TGF-beta response through its regulation of CatL expression and defines a molecular mechanism underlying proteinuric kidney disease
      Title: CD2AP in mouse and human podocytes controls a proteolytic program that regulates cytoskeletal structure and cellular survival.
    5. The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy.
      Title: Urinary podocyte-associated mRNA profile in various stages of diabetic nephropathy.
    6. found that the N-terminal SH3 domain of both adaptor proteins CD2AP and CIN85 are the most stable SH3 domains that have been studied until now
      Title: Solution structure, dynamics and thermodynamics of the three SH3 domains of CD2AP.
    7. found independent evidence for association for Alzheimer's disease susceptibility loci at EPHA1, CD33 and CD2AP
      Title: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    8. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
      Title: Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    9. Coexpression of CIN85/Ruk(L) with CD2AP led to a decreased binding of CIN85/Ruk(L) to nephrin and podocin, which indicates a functional competition between CD2AP and CIN85/Ruk(L).
      Title: CIN85/RukL is a novel binding partner of nephrin and podocin and mediates slit diaphragm turnover in podocytes.
    10. Data identify CD2AP as a novel Rac1-associated adapter protein that participates in the regulation of epithelial cell-cell contact.
      Title: Rac1 recruits the adapter protein CMS/CD2AP to cell-cell contacts.
    Submit: New GeneRIF Correction See all (34)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NP_036252.1 NP_005179.2 CBL    BIND  PubMed CMS interacts with Cbl. This interaction was modeled on a demonstrated interaction between CMS from an unspecified species and human Cbl. 
    Q9Y5K6 P56945 BCAR1    HPRD  PubMed  
    Q9Y5K6 P52907 CAPZA1    HPRD  PubMed  
    Q9Y5K6 P22681 CBL    HPRD  PubMed  
    Q9Y5K6 P06729 CD2    HPRD  PubMed  
    Q9Y5K6 Q9Y5K6 CD2AP    HPRD  PubMed  
    Q9Y5K6 P06241 FYN    HPRD  PubMed  
    Q9Y5K6 P62993 GRB2    HPRD  PubMed  
    Q9Y5K6 P08631 HCK    HPRD  PubMed  
    Q9Y5K6 Q96EY5 MVB12A    HPRD  PubMed  
    Q9Y5K6 O60500 NPHS1    HPRD  PubMed  
    Q9Y5K6 Q9NP85 NPHS2    HPRD  PubMed  
    Q9Y5K6 P27986 PIK3R1    HPRD  PubMed  
    Q9Y5K6 Q13563 PKD2    HPRD  PubMed  
    Q9Y5K6 O43586 PSTPIP1    HPRD  PubMed  
    Q9Y5K6 P20338 RAB4A    HPRD  PubMed  
    Q9Y5K6 Q07889 SOS1    HPRD  PubMed  
    Q9Y5K6 Q07890 SOS2    HPRD  PubMed  
    Q9Y5K6 P12931 SRC    HPRD  PubMed  
    Q9Y5K6 Wilms tumor 1 interacting protein WTIP    HPRD  PubMed  
    Q9Y5K6 P07947 YES1    HPRD  PubMed  
    BioGRID:117140 BioGRID:106585 ACTC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:120424 ARHGAP17    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:114998 ARHGEF10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:114934 BCAR1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:117140 BioGRID:118894 BLNK    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:117140 BioGRID:122599 BRCC3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:107279 CAPZA1    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:117140 BioGRID:107280 CAPZA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:107282 CAPZB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid 
    BioGRID:117140 BioGRID:107316 CBLB    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure 
    BioGRID:117140 BioGRID:117156 CBLC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:113725 CCDC6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:107352 CD2    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex 
    BioGRID:117140 BioGRID:117140 CD2AP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:117140 BioGRID:108332 CTTN    BioGRID  PubMed Affinity Capture-Western; Far Western 
    BioGRID:117140 BioGRID:198477 Capza1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:198584 Cd2ap    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:108122 DNM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:108276 EGFR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:120541 ELP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS; Two-hybrid 
    BioGRID:117140 BioGRID:117927 HBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:117140 BioGRID:115530 HNRNPR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:109467 HOXC11    BioGRID  PubMed Two-hybrid 
    BioGRID:117140 BioGRID:115385 HUWE1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:114090 IKBKAP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:109847 INPP5D    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:117140 BioGRID:109883 ITGA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:115900 KHDRBS1    BioGRID  PubMed Protein-peptide 
    BioGRID:117140 BioGRID:115226 KIAA0196    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:116913 KIAA1033    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:214951 Kif23    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:119619 LARP7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:130590 MORF4L1P2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:114652 MTA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:125018 MVB12A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:117140 BioGRID:114654 NOLC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:110928 NPHS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:113590 NPHS2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:117140 BioGRID:113034 NR2C2    BioGRID  PubMed Two-hybrid 
    BioGRID:117140 BioGRID:109165 NR3C1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:109407 NR4A1    BioGRID  PubMed Two-hybrid 
    BioGRID:117140 BioGRID:110952 NRAS    BioGRID  PubMed Co-fractionation 
    BioGRID:117140 BioGRID:118995 NRBP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:115332 PDCD6IP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:115952 PTGES3    BioGRID  PubMed Two-hybrid 
    BioGRID:117140 BioGRID:108480 PTK2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:111805 RAB4A    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:117140 BioGRID:122962 RABEP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:205072 Racgap1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:117149 SH3BP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:112353 SH3GL2    BioGRID  PubMed Affinity Capture-Western; Far Western 
    BioGRID:117140 BioGRID:119029 SH3KBP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:114505 SPAG9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:112815 TRA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:114374 TSC22D1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:113102 TSG101    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117140 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:115085 USP34    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:113255 VCAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117140 BioGRID:116340 WDHD1    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    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
    cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    filamentous actin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    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 RefSeqGene

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

    mRNA and Protein(s)

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

      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:3 – 58
      Blast Score: 286
      SH3_CD2AP_1; First Src Homology 3 domain (SH3A) of CD2-associated protein
      cd12054
      Location:115 – 165
      Blast Score: 256
      SH3_CD2AP_2; Second Src Homology 3 domain (SH3B) of CD2-associated protein
      cd12056
      Location:271 – 327
      Blast Score: 299
      SH3_CD2AP_3; Third Src Homology 3 domain (SH3C) of CD2-associated protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      47445525..47594999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

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

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      47359657..47508762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01050606.1 (48154..143885) None
    genomic ABBA01050607.1 None
    genomic ABBA01050608.1 None
    genomic AL355353.23 (72315..141605) None
    genomic AL356421.10 (101..2599) None
    genomic AL358178.14 (101..77432) None
    genomic AMYH01016330.1 (513836..541715) None
    genomic AMYH01016331.1 None
    genomic AMYH01016332.1 None
    genomic CH471081.1 EAX04319.1
    mRNA AF146277.1 AAD34595.1
    mRNA AF164377.1 AAF80495.1
    mRNA AJ420469.1 None
    mRNA AL050105.1 CAB43274.1
    mRNA BC069444.1 AAH69444.1
    mRNA BU679191.1 None
    mRNA DA040834.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5K6.1 GenPept UniProtKB/Swiss-Prot:Q9Y5K6

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
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        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
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      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
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      • Probe
        Related Probe entry
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      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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