SHISA3

Chr 4

shisa family member 3

Also known as: hShisa3

This gene encodes a single-transmembrane protein which is one of nine members of a family of transmembrane adaptors that modulate both WNT and FGF signaling by blocking the maturation and transport of their receptors to the cell surface. Members of this family contain an N-terminal cysteine-rich domain with a distinct cysteine pattern, a single transmembrane domain, and a C-terminal proline-rich, low complexity region. The encoded protein acts as a tumor suppressor by accelerating beta-catenin degradation. [provided by RefSeq, Jul 2017]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.66
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.000
Z-score 0.21
OE 0.92 (0.521.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.39Z-score
OE missense 0.91 (0.791.05)
128 obs / 140.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.521.66)
00.351.4
Missense OE?0.91 (0.791.05)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 7 / 7.6Missense obs/exp: 128 / 140.9Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SHISA3 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →