GOLGA8M

Chr 15

golgin A8 family member M

NCBI Gene: 653720 ENSG00000261480 UniProt: H3BSY2

The protein is predicted to be involved in Golgi apparatus organization and is located in various Golgi compartments including the cis cisterna and cis-Golgi network. This gene is extremely tolerant to loss-of-function variants (very low constraint), and no established human diseases have been associated with GOLGA8M mutations to date.

ResearchSummary from RefSeq

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…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

LOEUF

Multiple*

Mechanism· predicted

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

Background carrier burden — how many people carry a rare variant somewhere in GOLGA8M?

gnomAD v4 · ~154k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 31,000

2 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GOLGA8M; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 1 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~123k	none seen	1 in 19,000

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.