TSPAN17

Chr 5

tetraspanin 17

Also known as: FBX23, FBXO23, TM4SF17

NCBI Gene: 26262ENSG00000048140UniProt: Q96FV3

This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.49
OE 0.63 (0.40–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.92Z-score
OE missense 0.81 (0.71–0.93)
158 obs / 194.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.40–1.02)
0≤0.351.4
Missense OE?0.81 (0.71–0.93)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 12 / 19.0Missense obs/exp: 158 / 194.2Syn Z: 0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSPAN17 · 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