CD9

Chr 12

CD9 molecule

Also known as: BTCC-1, DRAP-27, MIC3, MRP-1, TSPAN-29, TSPAN29

NCBI Gene: 928ENSG00000010278UniProt: P21926OMIM: 143030

This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]

OMIMResearchGenerating clinical summary…
2
Active trials
486
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.005
Z-score 1.94
OE 0.44 (0.24–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.87Z-score
OE missense 0.79 (0.68–0.93)
111 obs / 140.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.24–0.86)
0≤0.351.4
Missense OE?0.79 (0.68–0.93)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 6 / 13.8Missense obs/exp: 111 / 140.1Syn Z: 0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CD9 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients