Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CD2AP Gene

Aliases for CD2AP Gene

  • CD2-Associated Protein 2 3
  • Cas Ligand With Multiple SH3 Domains 3 4
  • Adapter Protein CMS 3 4
  • CMS 3 6
  • Cas Ligand With Multiple Src Homology 3 (SH3) Domains 3

External Ids for CD2AP Gene

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 multilocular cystic renal cell carcinoma. Among its related pathways are Cytoskeletal Signaling and Cell junction organization. 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

Genomic Location for CD2AP Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CD2AP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD2AP Gene

Regulatory Elements 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

Proteomics data for CD2AP Gene at MOPED

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CD2AP Gene

Domains for CD2AP Gene

Protein Domains for CD2AP Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CD2AP_HUMAN
Domain:
  • The Pro-rich domain may mediate binding to SH3 domains:
    • Q9Y5K6
  • Potential homodimerization is mediated by the coiled coil domain:
    • Q9Y5K6
  • Contains 3 SH3 domains.:
    • Q9Y5K6
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:0005200 structural constituent of cytoskeleton TAS 10339567
GO:0005515 protein binding IPI 10339567
GO:0017124 SH3 domain binding IPI 10339567
genes like me logo Genes that share ontologies with CD2AP: view
genes like me logo Genes that share phenotypes with CD2AP: view

Animal Models for CD2AP Gene

MGI Knock Outs for CD2AP:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 4
nucleus 4
plasma membrane 4
endosome 1
extracellular 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 --
GO:0005886 plasma membrane IDA --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with CD2AP: view

Pathways for CD2AP Gene

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

Pathways by source for CD2AP Gene

2 Cell Signaling Technology pathways 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:0007067 mitotic nuclear division IEA --
GO:0007165 signal transduction NAS 10339567
GO:0032911 negative regulation of transforming growth factor beta1 production IEA --
genes like me logo Genes that share ontologies with CD2AP: view

Compounds for CD2AP Gene

(3) Novoseek inferred chemical compound relationships for CD2AP Gene

Compound -log(P) Hits PubMed IDs
puromycin aminonucleoside 63.4 1
steroid 10 1
lipid 0 2
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD2AP Gene

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 expressions with CD2AP: view

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 36
  • 99.43 (n)
  • 99.37 (a)
CD2AP 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD2AP 36
  • 89.63 (n)
  • 88.15 (a)
CD2AP 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD2AP 36
  • 91.48 (n)
  • 91.22 (a)
CD2AP 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd2ap 36
  • 87.34 (n)
  • 86.5 (a)
Cd2ap 16
Cd2ap 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD2AP 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD2AP 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd2ap 36
  • 86.13 (n)
  • 84.62 (a)
chicken
(Gallus gallus)
Aves CD2AP 36
  • 72.52 (n)
  • 68.67 (a)
CD2AP 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD2AP 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd2ap 36
  • 62.44 (n)
  • 56.49 (a)
zebrafish
(Danio rerio)
Actinopterygii cd2ap 36
  • 58.05 (n)
  • 51.24 (a)
cd2ap 37
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cindr 37
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y44E3A.4 37
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToMany
Species with no ortholog for CD2AP:
  • 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

Selected 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 MAF
rs719856 -- 47,626,986(-) CATTA(C/T)GTAAC utr-variant-3-prime
rs901186 -- 47,546,510(+) ggaaa(A/T)ttatc intron-variant
rs901187 -- 47,546,543(+) acatt(A/G)tcatc intron-variant
rs923146 -- 47,607,661(+) TTAAT(A/G)TATTA intron-variant
rs923149 -- 47,556,322(-) gaaaa(C/G)caaac intron-variant

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

Variant ID Type Subtype PubMed ID
nsv471637 CNV Gain+Loss 15918152
nsv830655 CNV Gain 17160897
nsv5290 CNV Insertion 18451855
nsv819695 CNV Gain 19587683
nsv511330 CNV Loss 21212237
nsv511881 CNV Loss 21212237
esv2678861 CNV Deletion 23128226
esv23523 CNV Loss 19812545

Relevant External Links for CD2AP Gene

HapMap Linkage Disequilibrium report
CD2AP
Human Gene Mutation Database (HGMD)
CD2AP

Disorders for CD2AP Gene

(1) OMIM Diseases for CD2AP Gene (604241)

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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for CD2AP Gene

(12) Novoseek inferred disease relationships for CD2AP Gene

Disease -log(P) Hits PubMed IDs
nphs1 92.1 10
glomerulosclerosis, focal segmental 84.2 9
nephrotic syndrome 80.9 14
proteinuria 74 10
glomerulosclerosis 65.1 2

Relevant External Links for CD2AP

Genetic Association Database (GAD)
CD2AP
Human Genome Epidemiology (HuGE) Navigator
CD2AP
genes like me logo Genes that share disorders with CD2AP: view

Publications for CD2AP Gene

  1. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. (PMID: 12764198) Kim J.M. … Shaw A.S. (Science 2003) 3 4 23
  2. 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 23
  3. 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 23
  4. CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). (PMID: 19131354) Gigante M. … Gesualdo L. (Nephrol. Dial. Transplant. 2009) 3 23 49
  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

Products for CD2AP Gene

Sources for CD2AP Gene

Back to Top

Content