GOLGA8B

Chr 15

golgin A8 family member B

Also known as: GOLGA5

NCBI Gene: 440270 ENSG00000215252 UniProt: A8MQT2 OMIM: 609619

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.87

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.87LOEUF

pLI 0.000

Z-score -0.38

OE 1.18 (0.63–1.87)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.18Z-score

OE missense 1.06 (0.88–1.28)

79 obs / 74.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.18 (0.63–1.87)

0≤0.351.4

Missense OE?1.06 (0.88–1.28)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 6 / 5.1Missense obs/exp: 79 / 74.6Syn Z: -0.08

Background carrier burden — how many people carry a rare variant somewhere in GOLGA8B?

gnomAD v4 · ~716k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 430

25 rare PASS variants

Rare truncating (LoF)

1 in 800

21 rare PASS variants

Rare synonymous (reference)

1 in 450

13 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GOLGA8B; 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 · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~549k	1 in 290	1 in 610
South Asian	~41k	1 in 910	≈ 1 in 20,000
Remaining (unassigned)	~29k	1 in 3,100	1 in 4,400
European (Finnish)	~26k	1 in 2,000	1 in 2,500
Admixed American	~21k	1 in 2,500	1 in 1,500
East Asian	~20k	1 in 880	1 in 600
African / African American	~19k	≈ 1 in 4,600	1 in 1,100

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): 0 of 16 coding exons well covered in gnomAD exomes; exons 9, 10, 11, 12, 13 and 10 more poorly covered; exon 24 marginal. Genomes: 0 of 16 (exons 9, 10, 11, 12, 13 and 11 more below).? see exons ↓