Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CD2AP Gene

protein-coding   GIFtS: 62
GCID: GC06P047445

CD2-Associated Protein

  See CD2AP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
CD2-Associated Protein1 2
Adapter Protein CMS2 3
Cas Ligand With Multiple SH3 Domains2 3
CMS2 5
Cas Ligand With Multiple Src Homology 3 (SH3) Domains2

External Ids:    HGNC: 142581   Entrez Gene: 236072   Ensembl: ENSG000001980877   OMIM: 6042415   UniProtKB: Q9Y5K63   

Export aliases for CD2AP gene to outside databases

Previous GC identifers: GC06P047447 GC06P047492 GC06P047468 GC06P047553 GC06P047172


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CD2AP Gene:
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)

GeneCards Summary for CD2AP Gene:
CD2AP (CD2-associated protein) is a protein-coding gene. Diseases associated with CD2AP include focal segmental glomerulosclerosis 3, and multilocular cystic renal cell carcinoma. GO annotations related to this gene include SH3 domain binding and structural constituent of cytoskeleton. An important paralog of this gene is SH3D21.

UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
Function: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In
collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the
potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of
RET degradation. May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell
and antigen-presenting cell. May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal
glomerolus. Also required for cytokinesis

Gene Wiki entry for CD2AP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD2AP gene promoter:
         GR   CREB   GATA-3   deltaCREB   GR-alpha   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CD2AP promoter sequence
   Search Chromatin IP Primers for CD2AP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD2AP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12

CD2AP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD2AP gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P047445:  view genomic region     (about GC identifiers)

Start:
47,445,525 bp from pter      End:
47,594,999 bp from pter
Size:
149,475 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6 (See protein sequence)
Recommended Name: CD2-associated protein  
Size: 639 amino acids; 71451 Da
Subunit: Self-associates. Homodimer (Potential). Interacts with F-actin, PKD2, NPHS1 and NPHS2. Interacts with
WTIP. Interacts with DDN; interaction is direct. Interacts (via SH3 2 domain) with CBL (via phosphorylated
C-terminus). Interacts with BCAR1/p130Cas (via SH3 domain). Interacts with MVB12A and ARHGAP17. Interacts with
ANLN, CD2 and CBLB. Interacts with PDCD6IP and TSG101. Interacts with RIN3. Interacts directly with RET
(inactive) and CBLC; upon RET activation by GDNF suggested to dissociate from RET as CBLC:CD2AP complex
Selected PDB 3D structures from and Proteopedia for CD2AP (see all 8):
2FEI (3D)        2J6F (3D)        2J6K (3D)        2J6O (3D)        2J7I (3D)        3AA6 (3D)    
Secondary accessions: A6NL34 Q5VYA3 Q9UG97

Explore the universe of human proteins at neXtProt for CD2AP: NX_Q9Y5K6

Explore proteomics data for CD2AP at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CD2AP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036252.1  
    ENSEMBL proteins: 
     ENSP00000352264  
    Reactome Protein details: Q9Y5K6

    CD2AP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CD2AP
    OriGene Protein Over-expression Lysate for CD2AP
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CD2AP
    GenScript Custom Purified and Recombinant Proteins Services for CD2AP
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CD2AP

     
    Search eBioscience for Proteins for CD2AP 

    CD2AP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CD2AP
    Cell Signaling Technology (CST) Antibodies for CD2AP 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CD2AP
    Novus Biologicals CD2AP Antibodies
    Abcam antibodies for CD2AP
    Cloud-Clone Corp. Antibodies for CD2AP
    ThermoFisher Antibody for CD2AP
    LSBio Antibodies in human, mouse, rat for CD2AP

    CD2AP Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CD2AP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CD2AP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CD2AP
    Cloud-Clone Corp. CLIAs for CD2AP
    Search eBioscience for ELISAs for CD2AP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR001452 SH3_domain
     IPR028445 CD2AP

    Graphical View of Domain Structure for InterPro Entry Q9Y5K6

    ProtoNet protein and cluster: Q9Y5K6

    UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
    Domain: The Pro-rich domain may mediate binding to SH3 domains
    Domain: Potential homodimerization is mediated by the coiled coil domain
    Similarity: Contains 3 SH3 domains


    Find genes that share domains with CD2AP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD2AP_HUMAN, Q9Y5K6
    Function: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In
    collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the
    potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of
    RET degradation. May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell
    and antigen-presenting cell. May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal
    glomerolus. Also required for cytokinesis

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005172vascular endothelial growth factor receptor binding IEA--
    GO:0005200structural constituent of cytoskeleton TAS10339567
    GO:0005515protein binding IPI10339567
    GO:0008013beta-catenin binding IEA--
    GO:0008022protein C-terminus binding IEA--
         
    Find genes that share ontologies with CD2AP           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cd2ap):
     cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  renal/urinary system 

    Find genes that share phenotypes with CD2AP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cd2aptm1Shaw for CD2AP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD2AP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD2AP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD2AP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD2AP

    miRNA
    Products:
        
    miRTarBase miRNAs that target CD2AP:
    hsa-mir-130b-3p (MIRT020288), hsa-mir-19b-3p (MIRT031227), hsa-mir-484 (MIRT041730), hsa-mir-186-5p (MIRT045208), hsa-let-7a-5p (MIRT052456), hsa-mir-128-3p (MIRT022095), hsa-mir-30b-5p (MIRT023443), hsa-mir-1 (MIRT023930), hsa-mir-92a-3p (MIRT049274), hsa-mir-124-3p (MIRT022891)

    Block miRNA regulation of human, mouse, rat CD2AP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CD2AP (see all 81):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-188-5p hsa-miR-15a hsa-miR-199a-3p hsa-miR-128 hsa-miR-30d hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidCD2AP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CD2AP
    Predesigned siRNA for gene silencing in human, mouse, rat CD2AP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CD2AP

    Clone
    Products:
         
    OriGene clones in human, mouse for CD2AP (see all 6)
    OriGene ORF clones in mouse, rat for CD2AP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CD2AP (NM_012120)
    Sino Biological Human cDNA Clone for CD2AP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD2AP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD2AP

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CD2AP
    Browse ESI BIO Cell Lines and PureStem Progenitors for CD2AP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD2AP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CD2AP_HUMAN, Q9Y5K6: Cytoplasm, cytoskeleton (By similarity). Cell projection, ruffle (By similarity).
    Note=Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles. Located at podocyte slit diaphragm between
    podocyte foot processes (By similarity). During late anaphase and telophase, concentrates in the vicinity of the
    midzone microtubules and in the midbody in late telophase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus4
    plasma membrane4
    endosome1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA10339567
    GO:0005730nucleolus ----
    GO:0005737cytoplasm TAS10339567
    GO:0005886plasma membrane IEA--
    GO:0015629actin cytoskeleton TAS10339567

    Find genes that share ontologies with CD2AP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CD2AP About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell-Cell communication0.64
    2Signaling events mediated by VEGFR1 and VEGFR2
    VEGFR1 specific signals0.37
    3Nephrin/Neph1 signaling in the kidney podocyte
    Nephrin/Neph1 signaling in the kidney podocyte
    4Nephrin interactions
    Nephrin interactions
    5Lymphocyte Signaling
    Lymphocyte Signaling


    Find genes that share SuperPaths with CD2AP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for CD2AP
        Cytoskeletal Signaling
    Lymphocyte Signaling

    2 BioSystems Pathways for CD2AP
        VEGFR1 specific signals
    Nephrin/Neph1 signaling in the kidney podocyte


    1 Reactome Pathway for CD2AP
        Nephrin interactions


    1 Kegg Pathway  (Kegg details for CD2AP):
        Bacterial invasion of epithelial cells

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CD2AP
    Interactions:

        GeneGlobe Interaction Network for CD2AP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CD2AP (Q9Y5K61, 2, 3 ENSP000003522644) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLBQ131911, 2, 3, ENSP000002641224EBI-298152,EBI-744027 MINT-7041409 MINT-7041451 MINT-7041464 MINT-7041365 I2D: score=1 STRING: ENSP00000264122
    CD2P067291, 2, 3, ENSP000003584904EBI-298152,EBI-3912464 MINT-7041387 MINT-51118 MINT-51119 I2D: score=4 STRING: ENSP00000358490
    PDCD6IPQ8WUM41, 2, 3, ENSP000003073874EBI-298152,EBI-310624 MINT-6173759 MINT-6173665 I2D: score=2 STRING: ENSP00000307387
    TSG101Q998161, 2, 3, ENSP000002519684EBI-298152,EBI-346882 MINT-6173687 MINT-6173772 I2D: score=1 STRING: ENSP00000251968
    ABL1P005192, 3, ENSP000003614234MINT-8110095 I2D: score=3 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS10339567
    GO:0006930substrate-dependent cell migration, cell extension TAS10339567
    GO:0007067mitosis IEA--
    GO:0007165signal transduction NAS10339567
    GO:0016050vesicle organization IEA--

    Find genes that share ontologies with CD2AP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD2AP

    3 Novoseek inferred chemical compound relationships for CD2AP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    puromycin aminonucleoside 63.4 2 12704576 (1)
    steroid 10 2 16909243 (1)
    lipid 0 2 15327385 (1), 19945749 (1)



    Find genes that share compounds with CD2AP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CD2AP gene: 
    NM_012120.2  

    Unigene Cluster for CD2AP:

    CD2-associated protein
    Hs.485518  [show with all ESTs]
    Unigene Representative Sequence: NM_012120
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359314(uc003oyw.3) ENST00000477159 ENST00000463175 ENST00000479857
    ENST00000486693
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CD2AP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CD2AP (see all 81):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-188-5p hsa-miR-15a hsa-miR-199a-3p hsa-miR-128 hsa-miR-30d hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidCD2AP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CD2AP
    Predesigned siRNA for gene silencing in human, mouse, rat CD2AP
    Clone
    Products:
         
    OriGene clones in human, mouse for CD2AP (see all 6)
    OriGene ORF clones in mouse, rat for CD2AP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CD2AP (NM_012120)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD2AP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD2AP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CD2AP
    OriGene qSTAR qPCR primer pairs in human, mouse for CD2AP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD2AP
      QuantiTect SYBR Green Assays in human, mouse, rat CD2AP
      QuantiFast Probe-based Assays in human, mouse, rat CD2AP

    Additional mRNA sequence: 

    AF146277.1 AF164377.1 AJ420469.1 AL050105.1 BC069444.1 

    6 DOTS entries:

    DT.454118  DT.40279660  DT.91832439  DT.92414833  DT.95072937  DT.100649958 

    Selected AceView cDNA sequences (see all 133):

    BM750717 CA391278 BU679191 BM966962 BM785613 AL700509 AA643885 AW572001 
    BM091307 AL701160 AI018159 AA808149 BQ022766 AW770101 AW088608 AA767503 
    AF164377 BQ959270 BP383196 CB321740 BM978933 BI260024 CB133749 AJ420469 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CD2AP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCTCTCTC
    CD2AP Expression
    About this image


    CD2AP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Podocytes Podocyte Layer
             Metanephros
             Renal-like cells
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
    CD2AP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD2AP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485518

    UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
    Tissue specificity: Widely expressed in fetal and adult tissues

        Custom PCR Arrays for CD2AP
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CD2AP
    OriGene qSTAR qPCR primer pairs in human, mouse for CD2AP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD2AP
    QuantiTect SYBR Green Assays in human, mouse, rat CD2AP
    QuantiFast Probe-based Assays in human, mouse, rat CD2AP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD2AP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CD2AP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd2ap1 , 5 CD2-associated protein1, 5 87.34(n)1
    86.5(a)1
      17 (19.67 cM)5
    124881  NM_009847.31  NP_033977.31 
     427929515 
    chicken
    (Gallus gallus)
    Aves CD2AP1 CD2-associated protein 72.52(n)
    68.67(a)
      771715  XM_003641061.2  XP_003641109.2 
    lizard
    (Anolis carolinensis)
    Reptilia CD2AP6
    CD2-associated protein
    67(a)
    1 ↔ 1
    1(138165993-138262405)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL892493.22   -- 77.01(n)    AL892493.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cd2ap1 CD2-associated protein 58.05(n)
    51.24(a)
      494040  NM_001008583.2  NP_001008583.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta cindr6
    CIN85 and CD2AP orthologue
    14(a)
    1 → many
    3R(26634338-26652722)
    worm
    (Caenorhabditis elegans)
    Secernentea Y44E3A.46
    Protein Y44E3A.4 (Y44E3A.4) mRNA, complete cds
    20(a)
    1 → many
    I(3319853-3330673) WBGene00021549


    ENSEMBL Gene Tree for CD2AP (if available)
    TreeFam Gene Tree for CD2AP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CD2AP gene
    SH3D212  SH3KBP12  
    2 SIMAP similar genes for CD2AP using alignment to 1 protein entry:     CD2AP_HUMAN:
    SH3GL2    SH3KBP1

    Find genes that share paralogs with CD2AP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CD2AP (see all 3060)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs745255591,2
    --47180661(+) AGAAAG/TAAATA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs114201741,2
    C--47188431(+) TTTTTT/-CCAAT 1 -- int1 trp32Minor allele frequency- -:0.00NA CSA 4
    rs2009659141,2
    C--47201839(+) CAGACA/GATGGG 1 -- int10--------
    rs132200371,2
    C--47202049(+) aggccA/Gaggtt 1 -- int10--------
    rs342973621,2
    C--47208598(+) ATACCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs361007421,2
    C--47217470(+) AAAAA-/AGAAAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs114157771,2
    C--47220073(+) TTTTT-/CTCCAC 1 -- int1 trp30--------
    rs341681701,2
    C--47220304(+) AAGTAG/-GTCTG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs681060661,2
    C--47230395(+) AGGCT-/ACTGA 
            
    GTAGC
    1 -- int10--------
    rs762819051,2
    C--47239590(+) TAAAT-/AG/GA 
            
    GTTTC
    1 -- int10--------

    HapMap Linkage Disequilibrium report for CD2AP (47445525 - 47594999 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CD2AP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678861CNV Deletion23128226
    nsv5290CNV Insertion18451855
    nsv511330CNV Loss21212237
    nsv511881CNV Loss21212237
    esv23523CNV Loss19812545
    nsv819695CNV Gain19587683
    nsv830655CNV Gain17160897
    nsv471637CNV Gain+Loss15918152

    Human Gene Mutation Database (HGMD): CD2AP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD2AP
    DNA2.0 Custom Variant and Variant Library Synthesis for CD2AP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 604241   
    OMIM disorders: 607832  
    UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
  • Focal segmental glomerulosclerosis 3 (FSGS3) [MIM:607832]: A renal pathology defined by the presence of
    segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive
    decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state
    requiring either dialysis therapy or kidney transplantation. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry

  • 9 diseases for CD2AP:    
    About MalaCards
    focal segmental glomerulosclerosis 3    multilocular cystic renal cell carcinoma    familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis    steroid-resistant nephrotic syndrome
    frasier syndrome    glomerulosclerosis    focal segmental glomerulosclerosis    nail-patella syndrome
    nephrotic syndrome

    4 diseases from the University of Copenhagen DISEASES database for CD2AP:
    Nephrotic syndrome     Proteinuria     Glomerulonephritis     nail-patella syndrome

    Find genes that share disorders with CD2AP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CD2AP gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphs1 92.1 11 15509792 (2), 15616033 (1), 16710349 (1), 12819328 (1) (see all 9)
    glomerulosclerosis, focal segmental 84.2 10 14643126 (3), 17713465 (1), 16739878 (1), 12764198 (1) (see all 7)
    nephrotic syndrome 80.9 15 19131354 (3), 10997929 (2), 12217865 (1), 17459670 (1) (see all 11)
    proteinuria 74 11 12853730 (2), 11730159 (1), 17713465 (1), 19131354 (1) (see all 9)
    glomerulosclerosis 65.1 2 15509792 (2)
    nephrotic syndrome minimal change 63.8 2 16739878 (1), 16941146 (1)
    renal disease 51.4 6 15149332 (2), 14643126 (1), 19095050 (1)
    nephropathy iga 45.4 5 16941146 (2), 14643126 (1), 16739878 (1)
    nephropathy membranous 44.2 1 16889564 (1)
    renal failure 39.8 4 15509792 (2), 16106076 (1), 14643126 (1)

    Genetic Association Database (GAD): CD2AP
    Human Genome Epidemiology (HuGE) Navigator: CD2AP (4 documents)

    Export disorders for CD2AP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for CD2AP gene, integrated from 10 sources (see all 160):
    (articles sorted by number of sources associating them with CD2AP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CMS: an adapter molecule involved in cytoskeletal rearrangements. (PubMed id 10339567)1, 2, 3 Kirsch K.H.... Hanafusa H. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction. (PubMed id 18753381)1, 2, 9 Tsui C.C. and Pierchala B.A. (J. Neurosci. 2008)
    3. CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). (PubMed id 19131354)1, 4, 9 Gigante M....Gesualdo L. (Nephrol. Dial. Transplant. 2009)
    4. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. (PubMed id 12764198)1, 2, 9 Kim J.M.... Shaw A.S. (Science 2003)
    5. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PubMed id 17853893)1, 2, 9 Morita E.... Sundquist W.I. (EMBO J. 2007)
    6. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PubMed id 21460841)1, 4 Naj A.C....Schellenberg G.D. (Nat. Genet. 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Solution structure of the second SH3 domain of human CMS and a newly identified binding site at the C-terminus of c-Cbl. (PubMed id 17188587)1, 2 Yao B.... Shi Y. (Biochim. Biophys. Acta 2007)
    9. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PubMed id 16678097)1, 2 Wells C.D.... Pawson T. (Cell 2006)
    10. Atypical polyproline recognition by the CMS N-terminal Src homology 3 domain. (PubMed id 17020880)1, 2 Moncalian G....Bravo J. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 23607 HGNC: 14258 AceView: CD2AP Ensembl:ENSG00000198087 euGenes: HUgn23607
    ECgene: CD2AP Kegg: 23607 H-InvDB: CD2AP

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CD2AP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CD2AP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CD2AP gene:
    Search GeneIP for patents involving CD2AP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for CD2AP (CD2AP)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CD2AP  
     OriGene qPCR primer pairs and template standards for CD2AP   OriGene Protein Over-expression Lysate for CD2AP  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CD2AP  
     OriGene qSTAR qPCR primer pairs in human, mouse for CD2AP   OriGene Purified Protein for CD2AP  
     OriGene ORF clones in mouse, rat for CD2AP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CD2AP   OriGene Custom Protein Services for CD2AP  

     
     
     Block miRNA regulation of human, mouse, rat CD2AP using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CD2AP
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD2AP Predesigned siRNA for gene silencing in human, mouse, rat CD2AP
     QuantiFast Probe-based Assays in human, mouse, rat CD2AP QuantiTect SYBR Green Assays in human, mouse, rat CD2AP
     Custom PCR Arrays for CD2AP Search Chromatin IP Primers for CD2AP
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD2AP  GeneGlobe Interaction Network for CD2AP
     Regulatory tfbs in CD2AP promoter
     GenScript Custom Purified and Recombinant Proteins Services for CD2AP GenScript cDNA clones with any tag delivered in your preferred vector for CD2AP
     GenScript Custom Assay Services for CD2AP GenScript Custom overexpressing Cell Line Services for CD2AP
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for CD2AP 

     Search Tocris compounds for CD2AP
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for CD2AP
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CD2AP antibodies
     Antibodies for CD2AP
     See all of Abcam's Antibodies, Kits and Proteins for CD2AP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CD2AP
     Antibodies for CD2AP
     ELISAs for CD2AP
     CLIAs for CD2AP



     Browse ESI BIO Cell Lines and PureStem Progenitors for CD2AP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD2AP
     SwitchGear 3'UTR luciferase reporter plasmids for CD2AP
     SwitchGear Promoter luciferase reporter plasmids for CD2AP
     ThermoFisher Antibody for CD2AP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD2AP
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD2AP
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD2AP
     LSBio Antibodies in human, mouse, rat for CD2AP
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CD2AP
      Search eBioscience for proteins for CD2AP
      Search eBioscience for elisas for CD2AP
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CD2AP gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4