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CD151

Chr 11p15.5

CD151 molecule (Raph blood group)

Aliases:
SFA-1, PETA-3, TSPAN24, RAPH
MANE:
ENST00000397420.9

Annotations refreshed 11 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermolysis bullosa and congenital skin fragility

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained kidney failure in young people

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermolysis bullosa

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic hearing loss

Disease associations (Open Targets)

  • epidermolysis bullosa simplex 7, with nephropathy and deafness

    0.73
  • Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome

    0.73
  • Abnormality of the skeletal system

    0.39
  • hereditary disease

    0.19
  • neoplasm

    0.12
  • breast cancer

    0.11
  • hepatocellular carcinoma

    0.11
  • cancer

    0.10
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.10
  • non-small cell lung carcinoma

    0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CD151 antigen

Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays a role in various cellular and molecular mechanism through its association with both integrin and non-integrin proteins. These interactions facilitate critical cellular functions, including cell-to-cell communication, wound healing, platelet aggregation, trafficking, cell motility, and angiogenesis (PubMed:17045834, PubMed:24723389, PubMed:31488507). Via interaction with JAM-A/F11R and integrin ITGA3:ITGB1, promotes the recruitment of signaling molecules such as RAC1, CDC42 and RhoGTPases to facilitate the polarization of epithelial cells and the reorganization of the actin cytoskeleton, which are critical steps in cell migration process (PubMed:22843693, PubMed:35067832). Regulates the glycosylation pattern of ITGA3:ITGB1 thereby modulating its activity (PubMed:18852263). Plays an essential role in the maintenance of central laminin-binding integrin ITGA6:ITGB4-containing adhesion complexes (PubMed:31488507). Essential for the proper assembly of the glomerular and tubular basement membranes in kidney (PubMed:15265795). Contributes to T-cell activation by modulating integrin signaling leading to activation of downstream targets PTK2 and MAPK1/MAPK3 (PubMed:24723389)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.