GOLT1B

Chr 12

golgi transport 1B

Also known as: CGI-141, GCT2, GOT1, GOT1B, YMR292W

NCBI Gene: 51026ENSG00000111711UniProt: Q9Y3E0OMIM: 615078

Involved in positive regulation of canonical NF-kappaB signal transduction. Located in endoplasmic reticulum. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.853
Z-score 2.32
OE 0.00 (0.00–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.01Z-score
OE missense 0.65 (0.51–0.84)
44 obs / 67.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.48)
0≤0.351.4
Missense OE?0.65 (0.51–0.84)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 0 / 6.3Missense obs/exp: 44 / 67.3Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOLT1B · 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