TSPAN15

Chr 10

tetraspanin 15

Also known as: 2700063A19Rik, NET-7, NET7, TM4SF15

NCBI Gene: 23555ENSG00000099282UniProt: O95858OMIM: 613140

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 use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.008
Z-score 2.18
OE 0.40 (0.22–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.88Z-score
OE missense 0.81 (0.71–0.94)
141 obs / 173.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.22–0.78)
0≤0.351.4
Missense OE?0.81 (0.71–0.94)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 6 / 15.1Missense obs/exp: 141 / 173.5Syn Z: 0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSPAN15 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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