INHBE

Chr 12

inhibin subunit beta E

This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate an inhibin beta subunit. Inhibins have been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protein may inhibit cellular proliferation and growth in pancreas and liver. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
3
Active trials
16
Pubs (1 yr)
P/LP submissions
P/LP missense
1.43
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.34
OE 0.90 (0.591.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.66Z-score
OE missense 0.86 (0.760.98)
165 obs / 190.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.591.43)
00.351.4
Missense OE?0.86 (0.760.98)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 13 / 14.4Missense obs/exp: 165 / 190.8Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

INHBE · protein map & ClinVar variants

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