Seroatlas · Human Serome Atlas

CD2AP

CD2-associated protein

Also known as: CD2AP_HUMAN, CMS

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y5K6
Gene
CD2AP
Ensembl
ENSG00000198087
Chromosome
6
Canonical length
639 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Plasma membrane,Centriolar satellite
Quaternary structure
Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

639 residues, UniProt reviewed canonical sequence.

>Q9Y5K6|CD2AP
     1  MVDYIVEYDY DAVHDDELTI RVGEIIRNVK KLQEEGWLEG ELNGRRGMFP DNFVKEIKRE
    61  TEFKDDSLPI KRERHGNVAS LVQRISTYGL PAGGIQPHPQ TKNIKKKTKK RQCKVLFEYI
   121  PQNEDELELK VGDIIDINEE VEEGWWSGTL NNKLGLFPSN FVKELEVTDD GETHEAQDDS
   181  ETVLAGPTSP IPSLGNVSET ASGSVTQPKK IRGIGFGDIF KEGSVKLRTR TSSSETEEKK
   241  PEKPLILQSL GPKTQSVEIT KTDTEGKIKA KEYCRTLFAY EGTNEDELTF KEGEIIHLIS
   301  KETGEAGWWR GELNGKEGVF PDNFAVQINE LDKDFPKPKK PPPPAKAPAP KPELIAAEKK
   361  YFSLKPEEKD EKSTLEQKPS KPAAPQVPPK KPTPPTKASN LLRSSGTVYP KRPEKPVPPP
   421  PPIAKINGEV SSISSKFETE PVSKLKLDSE QLPLRPKSVD FDSLTVRTSK ETDVVNFDDI
   481  ASSENLLHLT ANRPKMPGRR LPGRFNGGHS PTHSPEKILK LPKEEDSANL KPSELKKDTC
   541  YSPKPSVYLS TPSSASKANT TAFLTPLEIK AKVETDDVKK NSLDELRAQI IELLCIVEAL
   601  KKDHGKELEK LRKDLEEEKT MRSNLEMEIE KLKKAVLSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CD2AP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.6
Highest tissue expression
56 nTPM

Expression across tissuesHPA

Tissue

  • small intestine: 56 nTPM
  • duodenum: 54 nTPM
  • stomach: 38 nTPM
  • colon: 38 nTPM
  • rectum: 35 nTPM
  • parathyroid gland: 34 nTPM

Single-cell type

  • pdcs: 811 nCPM
  • enterocytes: 648 nCPM
  • endometrial ciliated cells: 565 nCPM
  • endometrial luminal cells: 530 nCPM
  • urothelial cells: 504 nCPM
  • renal connecting tubule cells: 504 nCPM

Immune cell

  • plasmacytoid DC: 9.9 nTPM
  • eosinophil: 3.2 nTPM
  • NK-cell: 3.1 nTPM
  • basophil: 1.8 nTPM
  • MAIT T-cell: 1.8 nTPM
  • naive CD8 T-cell: 1.5 nTPM

Brain region

  • choroid plexus: 19 nTPM
  • cerebellum: 14 nTPM
  • medulla oblongata: 11 nTPM
  • white matter: 10 nTPM
  • spinal cord: 10 nTPM
  • pons: 9.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CD2AP.

Disease | AllUniProt

Conditions CD2AP is implicated in, by any mechanism.

  • Focal segmental glomerulosclerosis 3 (FSGS3) MIM:607832

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 466 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.41
gnomAD pLI
0.23
gnomAD missense Z
0
DepMap mean gene effect
0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CD2AP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CD2AP as an antibody target. Whether an autoantibody or antibody against CD2AP could matter depends on whether native CD2AP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CD2AP is annotated at the cell surface, where native CD2AP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CD2AP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CD2AP. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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