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 edg... See more...

Aliases for CD2AP Gene

Aliases for CD2AP Gene

  • CD2 Associated Protein 2 3 5
  • Cas Ligand With Multiple SH3 Domains 3 4
  • CD2-Associated Protein 3 4
  • Adapter Protein CMS 3 4
  • Cas Ligand With Multiple Src Homology 3 (SH3) Domains 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 Focal Segmental Glomerulosclerosis 3 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Nephrin interactions and Cell junction organization. Gene Ontology (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 Summary for CD2AP Gene

  • Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). 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 (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260).

Gene Wiki entry for CD2AP Gene

Additional gene information for CD2AP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD2AP Gene

Genomics for CD2AP Gene

GeneHancer (GH) Regulatory Elements for CD2AP Gene

Promoters and enhancers for CD2AP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD2AP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD2AP

Top Transcription factor binding sites by QIAGEN in the CD2AP gene promoter:
  • CREB
  • deltaCREB
  • GATA-3
  • GR
  • GR-alpha
  • Nkx2-5

Genomic Locations for CD2AP Gene

Genomic Locations for CD2AP Gene
chr6:47,477,746-47,627,263
(GRCh38/hg38)
Size:
149,518 bases
Orientation:
Plus strand
chr6:47,445,525-47,594,999
(GRCh37/hg19)
Size:
149,475 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:
    • Homodimer. 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 (Probable) (PubMed:10339567, PubMed:11067845, PubMed:15800069, PubMed:16678097, PubMed:16895919, PubMed:17020880, PubMed:17853893, PubMed:18753381, Ref.29). Interacts with CGNL1 and SH3BP1; probably part of a complex at cell junctions (PubMed:22891260). Interacts with CAPZA1 (PubMed:22891260).

    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

No data available for DME Specific Peptides for CD2AP Gene

Domains & Families for CD2AP Gene

Gene Families for CD2AP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CD2AP Gene

Suggested Antigen Peptide Sequences for CD2AP Gene

GenScript: Design optimal peptide antigens:
  • Cas ligand with multiple SH3 domains (CD2AP_HUMAN)

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.
genes like me logo Genes that share domains with CD2AP: view

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 (PubMed:10339567). 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 (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260).

Phenotypes From GWAS Catalog for CD2AP Gene

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 IEA,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

CRISPR Products

miRNA for CD2AP Gene

miRTarBase miRNAs that target CD2AP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD2AP

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. Cell junction. Note=Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles (PubMed:10339567). 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 (PubMed:15800069). {ECO:0000250 UniProtKB:Q9JLQ0, ECO:0000269 PubMed:10339567, ECO:0000269 PubMed:15800069}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD2AP gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0001726 ruffle IDA 10339567
GO:0005737 cytoplasm TAS 10339567
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
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

1 KEGG pathway for CD2AP Gene
2 Cell Signaling Technology pathways for CD2AP Gene

SIGNOR curated interactions for CD2AP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CD2AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006930 substrate-dependent cell migration, cell extension TAS 10339567
GO:0007015 actin filament organization IMP 22891260
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction NAS 10339567
GO:0016050 vesicle organization IEA --
genes like me logo Genes that share ontologies with CD2AP: view

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

mRNA/cDNA for CD2AP Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD2AP

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

No ASD Table

Relevant External Links for CD2AP Gene

GeneLoc Exon Structure for
CD2AP

Expression for CD2AP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CD2AP Gene



Protein tissue co-expression partners for CD2AP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CD2AP Gene

  • Blood(4.5)
  • Liver(4.4)
  • Heart(3.5)
  • Muscle(3.4)
  • Kidney(3.1)
  • Intestine(2.5)
  • Nervous system(2.5)
  • Skin(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD2AP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CD2AP: view

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 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CD2AP 31 30
  • 91.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CD2AP 31 30
  • 89.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cd2ap 17 31 30
  • 87.34 (n)
rat
(Rattus norvegicus)
Mammalia Cd2ap 30
  • 86.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CD2AP 31
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD2AP 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD2AP 31 30
  • 72.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD2AP 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd2ap 30
  • 62.44 (n)
zebrafish
(Danio rerio)
Actinopterygii cd2ap 31 30
  • 58.05 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cindr 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y44E3A.4 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CD2AP: view image

Paralogs for CD2AP Gene

Paralogs for CD2AP Gene

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

  • CD2AP_HUMAN
genes like me logo Genes that share paralogs with CD2AP: view

Variants for CD2AP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD2AP Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
635481 Uncertain Significance: Focal segmental glomerulosclerosis 3, susceptibility to 47,606,263(+) A/G MISSENSE_VARIANT
726649 Likely Benign: not provided 47,580,869(+) A/G SYNONYMOUS_VARIANT
738377 Likely Benign: not provided 47,609,186(+) C/T MISSENSE_VARIANT
738635 Likely Benign: not provided 47,609,131(+) G/A SYNONYMOUS_VARIANT
772880 Likely Benign: not provided 47,609,113(+) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CD2AP Gene

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)

Additional Variant Information for CD2AP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CD2AP Gene

MalaCards: The human disease database

(76) MalaCards diseases for CD2AP Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
focal segmental glomerulosclerosis 3
  • focal segmental glomerulosclerosis 3, susceptibility to
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
focal segmental glomerulosclerosis
  • fgs
glomerular disease
lipoid nephrosis
  • minimal change disease
- 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.

Additional Disease Information for CD2AP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009) 3 23 41 54
  2. CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction. (PMID: 18753381) Tsui CC … Pierchala BA (The Journal of neuroscience : the official journal of the Society for Neuroscience 2008) 3 4 23 54
  3. Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis. (PMID: 17853893) Morita E … Sundquist WI (The EMBO journal 2007) 3 4 23 54
  4. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. (PMID: 12764198) Kim JM … Shaw AS (Science (New York, N.Y.) 2003) 3 4 23 54
  5. CMS: an adapter molecule involved in cytoskeletal rearrangements. (PMID: 10339567) Kirsch KH … Hanafusa H (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 54

Products for CD2AP Gene

Sources for CD2AP Gene