Human Gene CD2AP (ENST00000359314.5_4) from GENCODE V47lift37
  Description: CD2 associated protein (from RefSeq NM_012120.3)
Gencode Transcript: ENST00000359314.5_4
Gencode Gene: ENSG00000198087.7_8
Transcript (Including UTRs)
   Position: hg19 chr6:47,445,525-47,594,999 Size: 149,475 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr6:47,445,981-47,591,963 Size: 145,983 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:47,445,525-47,594,999)mRNA (may differ from genome)Protein (639 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CD2AP_HUMAN
DESCRIPTION: RecName: Full=CD2-associated protein; AltName: Full=Adapter protein CMS; AltName: Full=Cas ligand with multiple SH3 domains;
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.
SUBUNIT: Self-associates. Homodimer (Potential). Interacts (via SH3 2 domain) with CBL (via phosphorylated C-terminus). Interacts with BCAR1/p130Cas (via SH3 domain). Interacts with F-actin, PKD2, NPHS1 and NPHS2. Interacts with WTIP (By similarity). Interacts with FAM125A and ARHGAP17. Interacts with ANLN, CD2 and CBLB. Interacts with PDCD6IP and TSG101. Interacts with DDN; interaction is direct (By similarity).
INTERACTION: P62993:GRB2; NbExp=3; IntAct=EBI-298152, EBI-401755;
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.
TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.
DOMAIN: The Pro-rich domain may mediate binding to SH3 domains.
DOMAIN: Potential homodimerization is mediated by the coiled coil domain.
PTM: Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src.
DISEASE: 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.
SIMILARITY: Contains 3 SH3 domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD2AP";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CD2AP
Diseases sorted by gene-association score: glomerulosclerosis, focal segmental, 3* (1000), sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis* (350), glomerulosclerosis, focal segmental, 1* (106), focal segmental glomerulosclerosis (18), congenital nephrotic syndrome finnish type (12), atrophic rhinitis (11), long qt syndrome 15 (11), chiasmal syndrome (10), denys-drash syndrome (10), frasier syndrome (9), membranous nephropathy (9), nail-patella syndrome (8), lipoid nephrosis (8), nephrotic syndrome (8), myasthenic syndrome, congenital, 13, with tubular aggregates (8), familial nephrotic syndrome (7), malignant conjunctival melanoma (7), atrial septal defect 3 (7), vascular hemostatic disease (6), gestational trophoblastic neoplasm (6), brown-sequard syndrome (5), long qt syndrome 2 (5), osteogenesis imperfecta, type i (5), syringomyelia (5), kidney disease (4), catecholaminergic polymorphic ventricular tachycardia (4), wilms tumor susceptibility-5 (1), long qt syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.92 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 296.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -253.50456-0.556 Picture PostScript Text
3' UTR -628.603036-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
82061 - BAH domain
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2FEI - NMR MuPIT 2J6F - X-ray MuPIT 2J6K - X-ray MuPIT 2J6O - X-ray MuPIT 2J7I - X-ray MuPIT 3AA6 - X-ray 3LK4 - X-ray 3U23 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y5K6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005172 vascular endothelial growth factor receptor binding
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008022 protein C-terminus binding
GO:0017124 SH3 domain binding
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding

Biological Process:
GO:0006930 substrate-dependent cell migration, cell extension
GO:0007015 actin filament organization
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0016050 vesicle organization
GO:0016477 cell migration
GO:0032911 negative regulation of transforming growth factor beta1 production
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0048259 regulation of receptor-mediated endocytosis
GO:0051058 negative regulation of small GTPase mediated signal transduction
GO:0051301 cell division
GO:0065003 macromolecular complex assembly
GO:0098609 cell-cell adhesion
GO:1900182 positive regulation of protein localization to nucleus
GO:2000249 regulation of actin cytoskeleton reorganization

Cellular Component:
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0015629 actin cytoskeleton
GO:0030054 cell junction
GO:0030139 endocytic vesicle
GO:0031252 cell leading edge
GO:0031941 filamentous actin
GO:0032991 macromolecular complex
GO:0042995 cell projection
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC069444 - Homo sapiens CD2-associated protein, mRNA (cDNA clone MGC:97150 IMAGE:7262392), complete cds.
AF146277 - Homo sapiens adapter protein CMS mRNA, complete cds.
AF164377 - Homo sapiens CD2AP homolog mRNA, complete cds.
AL050105 - Homo sapiens mRNA; cDNA DKFZp586H0519 (from clone DKFZp586H0519).
JD203682 - Sequence 184706 from Patent EP1572962.
JD352288 - Sequence 333312 from Patent EP1572962.
JD179887 - Sequence 160911 from Patent EP1572962.
JD046925 - Sequence 27949 from Patent EP1572962.
JD433050 - Sequence 414074 from Patent EP1572962.
JD251343 - Sequence 232367 from Patent EP1572962.
JD493854 - Sequence 474878 from Patent EP1572962.
JD184257 - Sequence 165281 from Patent EP1572962.
JD490611 - Sequence 471635 from Patent EP1572962.
JD303395 - Sequence 284419 from Patent EP1572962.
AJ420469 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1056381.
JD237837 - Sequence 218861 from Patent EP1572962.
JD241433 - Sequence 222457 from Patent EP1572962.
JD073321 - Sequence 54345 from Patent EP1572962.
JD507151 - Sequence 488175 from Patent EP1572962.
JD307691 - Sequence 288715 from Patent EP1572962.
JD181217 - Sequence 162241 from Patent EP1572962.
JD236285 - Sequence 217309 from Patent EP1572962.
JD449174 - Sequence 430198 from Patent EP1572962.
JD042286 - Sequence 23310 from Patent EP1572962.
JD316081 - Sequence 297105 from Patent EP1572962.
JD250517 - Sequence 231541 from Patent EP1572962.
JD499981 - Sequence 481005 from Patent EP1572962.
JD515495 - Sequence 496519 from Patent EP1572962.
JD082278 - Sequence 63302 from Patent EP1572962.
JD089719 - Sequence 70743 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5K6 (Reactome details) participates in the following event(s):

R-HSA-373727 Nephrin binds CD2AP
R-HSA-451758 p85 associates with both p-Nephrin and CD2AP
R-HSA-373753 Nephrin family interactions
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: A6NL34, CD2AP_HUMAN, ENST00000359314.1, ENST00000359314.2, ENST00000359314.3, ENST00000359314.4, NM_012120, Q5VYA3, Q9UG97, Q9Y5K6, uc318azp.1, uc318azp.2
UCSC ID: ENST00000359314.5_4
RefSeq Accession: NM_012120.3
Protein: Q9Y5K6 (aka CD2AP_HUMAN or C2AP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.