GOLGA8M

Chr 15

golgin A8 family member M

NCBI Gene: 653720ENSG00000261480UniProt: H3BSY2

Predicted to be involved in Golgi organization. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.51
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?
1.51LOEUF
pLI 0.000
Z-score -0.12
OE 1.03 (0.72–1.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.27Z-score
OE missense 1.51 (1.35–1.68)
239 obs / 158.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.03 (0.72–1.51)
0≤0.351.4
Missense OE?1.51 (1.35–1.68)
0≤0.61.4
Synonymous OE?1.40
0≤1.21.6
LoF obs/exp: 19 / 18.5Missense obs/exp: 239 / 158.6Syn Z: -2.44

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

GOLGA8M · 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