CD63

Chr 12

CD63 molecule

Also known as: AD1, HOP-26, ME491, MLA1, OMA81H, Pltgp40, TSPAN30

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]

OMIMResearchGenerating clinical summary…
3
Active trials
757
Pubs (1 yr)
P/LP submissions
P/LP missense
0.82
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.017
Z-score 2.03
OE 0.39 (0.200.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.77Z-score
OE missense 0.82 (0.700.95)
113 obs / 138.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.200.82)
00.351.4
Missense OE?0.82 (0.700.95)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 5 / 12.9Missense obs/exp: 113 / 138.4Syn Z: 0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CD63 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.