TECTB

Chr 10

tectorin beta

NCBI Gene: 6975ENSG00000119913UniProt: Q96PL2

This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
DN
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?
1.28LOEUF
pLI 0.000
Z-score 0.62
OE 0.85 (0.57–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.02 (0.91–1.16)
192 obs / 187.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.85 (0.57–1.28)
0≤0.351.4
Missense OE?1.02 (0.91–1.16)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 16 / 18.9Missense obs/exp: 192 / 187.3Syn Z: -0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TECTB · 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