GOLGA8J

Chr 15

golgin A8 family member J

NCBI Gene: 653073 ENSG00000179938 UniProt: A6NMD2

The protein is predicted to be involved in Golgi apparatus organization and is located in Golgi membranes and cisternae. No established human diseases have been associated with mutations in this gene. This gene appears to be under very weak evolutionary constraint based on tolerance metrics.

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, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.88

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.88LOEUF

pLI 0.000

Z-score -1.45

OE 1.41 (0.99–1.88)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-2.67Z-score

OE missense 1.71 (1.52–1.92)

190 obs / 110.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.41 (0.99–1.88)

0≤0.351.4

Missense OE?1.71 (1.52–1.92)

0≤0.61.4

Synonymous OE?1.68

0≤1.21.6

LoF obs/exp: 21 / 14.9Missense obs/exp: 190 / 110.8Syn Z: -3.48

Background carrier burden — how many people carry a rare variant somewhere in GOLGA8J?

gnomAD v4 · ~725k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 45

262 rare PASS variants

Rare truncating (LoF)

1 in 490

39 rare PASS variants

Rare synonymous (reference)

1 in 150

87 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GOLGA8J. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~554k	1 in 62	1 in 750
South Asian	~43k	1 in 64	1 in 270
Remaining (unassigned)	~30k	1 in 66	1 in 1,000
European (Finnish)	~26k	1 in 170	none seen
Admixed American	~22k	1 in 40	1 in 350
East Asian	~20k	1 in 70	1 in 1,300
African / African American	~20k	1 in 52	1 in 470
Ashkenazi Jewish	~13k	1 in 88	≈ 1 in 4,100
Middle Eastern	~2,486	1 in 79	none seen

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.

Exome coverage (gnomAD): 2 of 19 coding exons well covered in gnomAD exomes; exons 1, 3, 4, 5, 6 and 4 more poorly covered; exons 2, 9, 10, 14, 15 and 3 more marginal. Genomes: 0 of 19 (exons 1, 2, 3, 4, 5 and 14 more below).? see exons ↓