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Aliases for CD2AP Gene

Aliases for CD2AP Gene

  • CD2 Associated Protein 2 3 5
  • Cas Ligand With Multiple SH3 Domains 3 4
  • Adapter Protein CMS 3 4
  • Cas Ligand With Multiple Src Homology 3 (SH3) Domains 3
  • CD2-Associated Protein 3
  • CMS 3

External Ids for CD2AP Gene

Previous GeneCards Identifiers for CD2AP Gene

  • GC06P047447
  • GC06P047492
  • GC06P047468
  • GC06P047553
  • GC06P047172

Summaries for CD2AP Gene

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 Glomerulosclerosis, Focal Segmental, 3 and Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Signaling events mediated by VEGFR1 and VEGFR2. GO annotations related to this gene include SH3 domain binding and structural constituent of cytoskeleton. An important paralog of this gene is SH3KBP1.

UniProtKB/Swiss-Prot for CD2AP Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD2AP Gene

Genomics for CD2AP Gene

Regulatory Elements for CD2AP Gene

Enhancers for CD2AP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F047519 0.8 Ensembl ENCODE 23.8 +43.7 43663 4.3 ELF3 ARID4B ZSCAN9 CHAMP1 RARA ZNF121 CREM MIXL1 SMARCA4 RCOR2 CD2AP ENSG00000270761 ADGRF2 ADGRF4 ENSG00000199762 RPS12P14
GH06F046733 0.2 ENCODE 19 -742.8 -742843 1.8 ZNF76 KLF17 RAD21 ZNF2 ZNF121 GLIS2 ZNF302 ZNF366 EGR2 ZNF263 CD2AP TDRD6 SLC25A27 PLA2G7 GC06P046731
GH06F047428 0.2 ENCODE 17.6 -48.4 -48407 2.0 CTCF ZNF133 CTBP2 POU5F1 RAD21 CD2AP ENSG00000270761 LOC105375082
GH06F047403 0.8 ENCODE 15.7 -72.0 -71963 4.8 JUN FEZF1 ZBTB40 ZFHX2 GATA3 ZNF366 ZNF157 ZNF19 PRDM10 FOS CD2AP ADGRF2 LOC105375082 ENSG00000270761
GH06F047499 0.6 Ensembl ENCODE 12.6 +23.0 23014 1.9 ZNF202 ZNF707 GLIS1 ZNF384 ZBTB33 ENSG00000270761 CD2AP ENSG00000199762 RPS12P14
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CD2AP on UCSC Golden Path with GeneCards custom track

Promoters for CD2AP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001217938 754 4201 HDGF PKNOX1 ARNT CREB3L1 SIN3A ARID4B DMAP1 SLC30A9 ZNF263 SP3

Genomic Location for CD2AP Gene

Chromosome:
6
Start:
47,477,746 bp from pter
End:
47,627,263 bp from pter
Size:
149,518 bases
Orientation:
Plus strand

Genomic View for CD2AP Gene

Genes around CD2AP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD2AP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD2AP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD2AP Gene

Proteins for CD2AP Gene

  • Protein details for CD2AP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K6-CD2AP_HUMAN
    Recommended name:
    CD2-associated protein
    Protein Accession:
    Q9Y5K6
    Secondary Accessions:
    • A6NL34
    • Q5VYA3
    • Q9UG97

    Protein attributes for CD2AP Gene

    Size:
    639 amino acids
    Molecular mass:
    71451 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CD2AP Gene

neXtProt entry for CD2AP Gene

Post-translational modifications for CD2AP Gene

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

Other Protein References for CD2AP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CD2AP (CD2AP)
  • Cloud-Clone Corp. Antibodies for CD2AP
  • Santa Cruz Biotechnology (SCBT) Antibodies for CD2AP

No data available for DME Specific Peptides for CD2AP Gene

Domains & Families for CD2AP Gene

Protein Domains for CD2AP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CD2AP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5K6

UniProtKB/Swiss-Prot:

CD2AP_HUMAN :
  • The Pro-rich domain may mediate binding to SH3 domains.
Domain:
  • The Pro-rich domain may mediate binding to SH3 domains.
  • Potential homodimerization is mediated by the coiled coil domain.
  • Contains 3 SH3 domains.
genes like me logo Genes that share domains with CD2AP: view

No data available for Gene Families for CD2AP Gene

Function for CD2AP Gene

Molecular function for CD2AP Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CD2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005172 vascular endothelial growth factor receptor binding IEA --
GO:0005200 structural constituent of cytoskeleton TAS 10339567
GO:0005515 protein binding IPI 10339567
GO:0008013 beta-catenin binding IEA --
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with CD2AP: view
genes like me logo Genes that share phenotypes with CD2AP: view

Human Phenotype Ontology for CD2AP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD2AP Gene

MGI Knock Outs for CD2AP:

Animal Model Products

miRNA for CD2AP Gene

miRTarBase miRNAs that target CD2AP

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD2AP Gene

Localization for CD2AP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD2AP Gene

Cytoplasm, cytoskeleton. Cell projection, ruffle. 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. {ECO:0000250, ECO:0000269 PubMed:15800069}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD2AP Gene COMPARTMENTS Subcellular localization image for CD2AP gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 2
mitochondrion 2
endosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CD2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 10339567
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA --
genes like me logo Genes that share ontologies with CD2AP: view

Pathways & Interactions for CD2AP Gene

genes like me logo Genes that share pathways with CD2AP: view

Pathways by source for CD2AP Gene

2 Reactome pathways for CD2AP Gene
1 KEGG pathway for CD2AP Gene

Gene Ontology (GO) - Biological Process for CD2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 10339567
GO:0006930 substrate-dependent cell migration, cell extension TAS 10339567
GO:0007010 cytoskeleton organization IEA --
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with CD2AP: view

No data available for SIGNOR curated interactions for CD2AP Gene

Drugs & Compounds for CD2AP Gene

(3) Additional Compounds for CD2AP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD2AP: view

Transcripts for CD2AP Gene

Unigene Clusters for CD2AP Gene

CD2-associated protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD2AP Gene

No ASD Table

Relevant External Links for CD2AP Gene

GeneLoc Exon Structure for
CD2AP
ECgene alternative splicing isoforms for
CD2AP

Expression for CD2AP Gene

mRNA expression in normal human tissues for CD2AP Gene

Protein differential expression in normal tissues from HIPED for CD2AP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.4), Lymph node (11.1), and Breast (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CD2AP Gene



Protein tissue co-expression partners for CD2AP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD2AP Gene:

CD2AP

SOURCE GeneReport for Unigene cluster for CD2AP Gene:

Hs.485518

mRNA Expression by UniProt/SwissProt for CD2AP Gene:

Q9Y5K6-CD2AP_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues.
genes like me logo Genes that share expression patterns with CD2AP: view

Primer Products

No data available for mRNA differential expression in normal tissues for CD2AP Gene

Orthologs for CD2AP Gene

This gene was present in the common ancestor of animals.

Orthologs for CD2AP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD2AP 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia CD2AP 34 35
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia CD2AP 34 35
  • 89.63 (n)
mouse
(Mus musculus)
Mammalia Cd2ap 34 16 35
  • 87.34 (n)
rat
(Rattus norvegicus)
Mammalia Cd2ap 34
  • 86.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CD2AP 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD2AP 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD2AP 34 35
  • 72.52 (n)
lizard
(Anolis carolinensis)
Reptilia CD2AP 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd2ap 34
  • 62.44 (n)
zebrafish
(Danio rerio)
Actinopterygii cd2ap 34 35
  • 58.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta cindr 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y44E3A.4 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for CD2AP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CD2AP Gene

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

Paralogs for CD2AP Gene

Paralogs for CD2AP Gene

(2) SIMAP similar genes for CD2AP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CD2AP: view

Variants for CD2AP Gene

Sequence variations from dbSNP and Humsavar for CD2AP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs267606710 Pathogenic 47,612,492(+) AACTG(A/C/T)GAAAA reference, synonymous-codon, stop-gained
rs387906340 Pathogenic 47,576,523(+) TTCTA(CT/G)CCCTT splice-acceptor-variant
rs144912461 Likely benign 47,576,586(+) GATAC(C/T)GAAGG reference, synonymous-codon
rs185360746 Likely benign 47,606,297(+) TTGTC(A/G)TAAAC intron-variant
rs185609509 Likely benign 47,599,462(+) GACAG(C/T)GGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CD2AP Gene

Variant ID Type Subtype PubMed ID
dgv10643n54 CNV loss 21841781
dgv10644n54 CNV loss 21841781
dgv10645n54 CNV loss 21841781
dgv10646n54 CNV loss 21841781
dgv1765e212 CNV loss 25503493
esv23523 CNV loss 19812545
esv2678861 CNV deletion 23128226
esv3539687 CNV deletion 23714750
esv3608900 CNV loss 21293372
nsv1017113 CNV gain 25217958
nsv1109775 CNV deletion 24896259
nsv471637 CNV gain+loss 15918152
nsv511330 CNV loss 21212237
nsv511881 CNV loss 21212237
nsv5290 CNV insertion 18451855
nsv603012 CNV loss 21841781
nsv603016 CNV loss 21841781
nsv819695 CNV gain 19587683
nsv830655 CNV gain 17160897
nsv981141 CNV duplication 23825009

Variation tolerance for CD2AP Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD2AP Gene

Human Gene Mutation Database (HGMD)
CD2AP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD2AP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD2AP Gene

Disorders for CD2AP Gene

MalaCards: The human disease database

(23) MalaCards diseases for CD2AP Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glomerulosclerosis, focal segmental, 3
  • focal segmental glomerulosclerosis 3
sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
focal segmental glomerulosclerosis
  • fgs
glomerulosclerosis
- elite association - COSMIC cancer census association via MalaCards
Search CD2AP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD2AP_HUMAN
  • 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. {ECO:0000269 PubMed:12764198}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CD2AP

Genetic Association Database (GAD)
CD2AP
Human Genome Epidemiology (HuGE) Navigator
CD2AP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD2AP
genes like me logo Genes that share disorders with CD2AP: view

No data available for Genatlas for CD2AP Gene

Publications for CD2AP Gene

  1. CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). (PMID: 19131354) Gigante M. … Gesualdo L. (Nephrol. Dial. Transplant. 2009) 3 22 46 64
  2. CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction. (PMID: 18753381) Tsui C.C. … Pierchala B.A. (J. Neurosci. 2008) 3 4 22 64
  3. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PMID: 17853893) Morita E. … Sundquist W.I. (EMBO J. 2007) 3 4 22 64
  4. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. (PMID: 12764198) Kim J.M. … Shaw A.S. (Science 2003) 3 4 22 64
  5. CMS: an adapter molecule involved in cytoskeletal rearrangements. (PMID: 10339567) Kirsch K.H. … Hanafusa H. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 64

Products for CD2AP Gene

Sources for CD2AP Gene

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