TSPAN5

Chr 4

tetraspanin 5

Also known as: NET-4, NET4, TM4SF9, TSPAN-5

NCBI Gene: 10098ENSG00000168785UniProt: P62079OMIM: 613136

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. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.38
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.38LOEUF
pLI 0.910
Z-score 3.31
OE 0.12 (0.05–0.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.08Z-score
OE missense 0.52 (0.43–0.63)
78 obs / 149.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.12 (0.05–0.38)
0≤0.351.4
Missense OE?0.52 (0.43–0.63)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 2 / 16.5Missense obs/exp: 78 / 149.6Syn Z: -0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSPAN5 · 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