Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD2AP Gene

protein-coding   GIFtS: 57
GCID: GC06P047445

CD2-associated protein
 Explore 25 diseases affiliated with
CD2AP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CD2AP    

Aliases
for CD2AP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
CD2-Associated Protein1 2
CMS1 2 5
Adapter Protein CMS2 3
Cas Ligand With Multiple SH3 Domains2 3
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


Summaries
for CD2AP gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CD2AP:
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)

UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
Function: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. 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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CD2AP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CD2AP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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 (By
similarity). Interacts with DDN; interaction is direct (By similarity). 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
Subcellular location: 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
6/8 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

Post-translational modifications:

  • Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5K6

    • CD2AP Protein expression data from MOPED and PaxDb:    About this image 
    CD2AP Protein Expression
    REFSEQ proteins: NP_036252.1  
    ENSEMBL proteins: 
     ENSP00000352264  
    Reactome Protein details: Q9Y5K6
    Human Recombinant Protein Products for CD2AP: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: CD2AP
    OriGene Custom Protein Services for CD2AP 
    GenScript Custom Purified and Recombinant Proteins Services for CD2AP
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CD2AP

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    CD2AP for ontologies           About GeneDecksing



    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 
    GenScript Custom Superior Antibodies Services for CD2AP
    Novus Biologicals CD2AP Antibodies
    Abcam antibodies for CD2AP 
    Uscn Antibodies for CD2AP
    Search ThermoFisher Antibodies for CD2AP

    Assay Products for CD2AP: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CD2AP
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CD2AP

    Protein Domains /
    Families
    for CD2AP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CD2AP for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001452 SH3_domain
     IPR011511 SH3_2

    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


    Function
    for CD2AP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD2AP_HUMAN, Q9Y5K6
    Function: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. 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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS10339567
    GO:0005515protein binding IPI--
    GO:0017124SH3 domain binding IPI10339567
         
    CD2AP for ontologies           About GeneDecksing


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

    CD2AP for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Cd2aptm1Shaw for CD2AP
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CD2AP 

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CD2AP
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD2AP
    8/81 QIAGEN miScript miRNA 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 plasmid: CD2AP 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD2AP (see all 7)
    OriGene shRNA RFP: CD2AP
    OriGene siRNA: CD2AP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD2AP
    Sirion Biotech Custom design and validation of potent shRNA sequences against CD2AP 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CD2AP
    Sirion Biotech Customized adenovirus for overexpression of CD2AP 
    Sirion Biotech Customized adenovirus for potent knockdown of CD2AP

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD2AP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
    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
    Search LifeMap BioReagents cell lines for CD2AP
    Sirion Biotech Customized stable knockdown cell line services for CD2AP 
    Sirion Biotech Customized inducible knockdown cell line services for CD2AP
    Sirion Biotech Customized stable overexpressing cell line services for CD2AP
    Sirion Biotech Customized inducible overexpressing cell line services for CD2AP

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD2AP


    Pathways & Interactions
    for CD2AP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lymphocyte Signaling
    		Lymphocyte Signaling1.00
    2Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    3Nephrin interactions
    		Nephrin interactions1.00
    4Nephrin/Neph1 signaling in the kidney podocyte
    		Nephrin/Neph1 signaling in the kidney podocyte1.00
    5Bacterial invasion of epithelial cells
    		Bacterial invasion of epithelial cells1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

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

    2        Reactome Pathways for CD2AP
        Nephrin interactions
    Cell-Cell communication


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


    CD2AP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD2AP

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

    5/105 Interacting proteins for CD2AP (Q9Y5K61, 2, 3 ENSP000003522644) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBLBQ131912, 3, ENSP000002641224MINT-7041409 MINT-7041451 MINT-7041464 MINT-7041365 I2D: score=1 STRING: ENSP00000264122
    CD2P067292, 3, ENSP000003584904MINT-7041387 MINT-51118 MINT-51119 I2D: score=4 STRING: ENSP00000358490
    PDCD6IPQ8WUM42, 3, ENSP000003073874MINT-6173759 MINT-6173665 I2D: score=2 STRING: ENSP00000307387
    TSG101Q998162, 3, ENSP000002519684MINT-6173687 MINT-6173772 I2D: score=1 STRING: ENSP00000251968
    ABL1P005192, 3, ENSP000003614234MINT-8110095 I2D: score=3 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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:0051301cell division IEA--

    CD2AP for ontologies           About GeneDecksing



    Drugs & Compounds
    for CD2AP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CD2AP for compounds           About GeneDecksing

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

    Browse Tocris compounds for CD2AP
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CD2AP 

    Transcripts
    for CD2AP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone: CD2AP
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD2AP
    8/81 QIAGEN miScript miRNA 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 plasmid: CD2AP 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD2AP (see all 7)
    OriGene shRNA RFP: CD2AP
    OriGene siRNA: CD2AP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD2AP
    Sirion Biotech Custom design and validation of potent shRNA sequences against CD2AP 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD2AP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for CD2AP
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CD2AP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD2AP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD2AP

    Additional cDNA 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 

    24/133 AceView cDNA sequences (see all 133):

    AA808149 AL700509 BM750717 BU679191 BM091307 AW572001 AI018159 AF164377 
    AL701160 CA391278 BM785613 AW770101 AA643885 AW088608 BQ022766 BQ959270 
    AA767503 BM966962 BQ215080 AI357621 AW958324 AL597184 BM893699 BC069444 

    GeneLoc Exon Structure


    Expression
    for CD2AP gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    CD2AP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyPodocyte LayerPodocytesKidney
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    KidneyMetanephrosKidney
    KidneyS-shaped BodyKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Renal-like cells (Derivation of renal-...)
    Epithelial Podocyte-like cells (Induction of mesench...)

    See CD2AP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD2AP

    SOURCE GeneReport for Unigene cluster: Hs.485518

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

        SABiosciences Custom PCR Arrays for CD2AP
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD2AP
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CD2AP
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD2AP
    QIAGEN 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
    for CD2AP gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for CD2AP gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CD2AP1 CD2-associated protein 73.22(n)
    70.61(a)    		   771715  XM_003641061.1  XP_003641109.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CD2AP6
    		 --
    		 68(a)
    		 1 ↔ 1
    		 1(138170800-138240614)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia AL892493.22   -- 77.01(n)    AL892493.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii cd2ap1 CD2-associated protein 58.77(n)
    52.14(a)    		   494040  NM_001008583.2  NP_001008583.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta cindr6
    		 CIN85 and CD2AP orthologue
    		 15(a)
    		 1 → many
    		 3R(26634338-26652722)
    worm
    (Caenorhabditis elegans)    		 Secernentea Y44E3A.46
    		 Protein Y44E3A.4
    		 17(a)
    		 1 → many
    		 I(3320923-3330675)


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

    Paralogs
    for CD2AP gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CD2AP gene
    SH3D212  SH3KBP12  
    2 SIMAP similar genes for CD2AP using alignment to 1 protein entry:     CD2AP_HUMAN:
    SH3GL2    SH3KBP1

    CD2AP for paralogs           About GeneDecksing



    Genomic Variants
    for CD2AP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2537 NCBI SNPs in CD2AP are shown (see all 2537)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs737364081,2
    		C--47170912(+) ATTTTC/ATATTA 1 -- us2k14Minor allele frequency- A:0.09WA NA EA 360
    rs122164231,2
    		H--47172032(+) CAATAG/ATTGGC 1 -- us2k14Minor allele frequency- A:0.00NS EA 392
    rs759684871,2
    		--47172098(+) AGGGGG/TAAAAA 1 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs1117664011,2
    		C--47172889(+) GTCCCC/GACCTT 1 -- ut514Minor allele frequency- G:0.09NA CSA WA 241
    rs93696971,2
    		--47173033(+) GGCCAC/GGGTGG 1 -- ut510--------
    rs94731181,2
    		C,F--47173691(+) CCTCCC/TCCTCC 1 -- int1 trp31Minor allele frequency- T:0.03WA 118
    rs1120283531,2
    		--47174579(+) TTCATC/ACTCAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs125250081,2
    		H--47174823(+) ACCTGG/AGGATG 1 -- int14Minor allele frequency- A:0.00NS EA 416
    rs746743261,2
    		--47175150(+) GATTTA/GTTTGT 1 -- int11Minor allele frequency- G:0.01NA 120
    rs728682661,2
    		--47175732(+) TTACTA/GCTTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CD2AP (47445525 - 47594999 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CD2AP
         5 CNVs: 64498 59344 36528 0718 36530
         1 Indel: 64497
    Human Gene Mutation Database (HGMD): CD2AP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD2AP
    DNA2.0 Custom Variant and Variant Library Synthesis for CD2AP

    Disorders / Diseases
    for CD2AP gene

    (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
    CD2AP for disorders           About GeneDecksing

    OMIM gene information: 604241   
    OMIM disorders: 607832  
    UniProtKB/Swiss-Prot: CD2AP_HUMAN, Q9Y5K6
  • Defects in CD2AP are the cause of susceptibility to focal segmental glomerulosclerosis type 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 edema. Renal insufficiency often progresses to end-stage renal
    disease, a highly morbid state requiring either dialysis therapy or kidney transplantation

    20/25 diseases for CD2AP (see all 25):    About MalaCards
    denys-drash syndrome    steroid-resistant nephrotic syndrome    nail-patella syndrome    focal segmental glomerulosclerosis
    wiskott-aldrich syndrome    glomerulosclerosis    nephrotic syndrome    atrophic rhinitis
    frasier syndrome    wilms tumor    polycystic kidney disease    nephropathy
    proteinuria    kidney disease    rhinitis    renal cell carcinoma
    glomerulopathy    gigantism    twinning    alzheimer's disease

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

    10/12 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CD2AP (4 documents)

    Export disorders for CD2AP gene to outside databases

    Publications
    for CD2AP gene

    (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

    PubMed articles for CD2AP gene, integrated from 9 sources (see all 146):
    (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. (1999)
    2. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. (PubMed id 12764198)1, 2, 9 Kim J.M.... Shaw A.S. (2003)
    3. 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. (2007)
    4. 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. (2007)
    5. 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. (2006)
    6. Atypical polyproline recognition by the CMS N-terminal Src homology 3 domain. (PubMed id 17020880)1, 2 Moncalian G....Bravo J. (2006)
    7. CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP. (PubMed id 16895919)1, 2 Konishi H....Taniguchi H. (2006)
    8. Clues to CD2-associated protein involvement in cytokinesis. (PubMed id 15800069)1, 2 Monzo P.... Cormont M. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The adapter type protein CMS/CD2AP binds to the proto-oncogenic protein c-Cbl through a tyrosine phosphorylation-regulated Src homology 3 domain interaction. (PubMed id 11067845)1, 2 Kirsch K.H....Hanafusa H. (2001)

    External Searches for CD2AP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CD2AP gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23607 HGNC: 14258 AceView: CD2AP Ensembl:ENSG00000198087 euGenes: HUgn23607
    ECgene: CD2AP Kegg: 23607 H-InvDB: CD2AP

    Other Databases showing CD2AP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CD2AP gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CD2AP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD2AP

    Intellectual Property
    for CD2AP gene

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



    Products
    for CD2AP gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for CD2AP (CD2AP)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CD2AP  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD2AP   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD2AP  
     OriGene Protein Over-expression Lysate for CD2AP   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CD2AP   OriGene 3'-UTR Clone for CD2AP  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD2AP   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD2AP  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CD2AP   OriGene Custom Protein Services for CD2AP  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CD2AP
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD2AP
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD2AP
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD2AP
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD2AP
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD2AP
     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 Superior Antibodies 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 

     Regulatory tfbs in CD2AP promoter
     Search Chromatin IP Primers for CD2AP
     RT2 qPCR Primer Assay in human, mouse, rat CD2AP
     GNC Network for CD2AP
     SABiosciences Custom PCR Arrays for CD2AP
     Search Tocris compounds for CD2AP
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     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




     CD2AP Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines 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
     Search ThermoFisher Antibodies for CD2AP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD2AP
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CD2AP
    Sirion Biotech Customized:
     stable knockdown cell line services for CD2AP
     inducible knockdown cell line services for CD2AP
     design and validation of potent shRNA sequences against CD2AP
     adenovirus for potent knockdown of CD2AP
     adenovirus for overexpression of CD2AP
     stable overexpressing cell line services for CD2AP
     inducible overexpressing cell line services for CD2AP
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      CD2AP gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4