GOLGA8F

Chr 15

golgin A8 family member F

NCBI Gene: 100132565 ENSG00000153684 UniProt: P0DX52

The protein is predicted to be involved in Golgi apparatus organization and is located in the Golgi cisternae and cis-Golgi network. Currently, no established human diseases have been linked to mutations in this gene. The gene shows tolerance to loss-of-function variants (LOEUF 1.629), suggesting it may not be essential for normal human development.

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…

LOEUF 1.63

Clinical Summary— GOLGA8F

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Population Constraint (gnomAD)

Low constraint (pLI 0.05) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

4 total variants — no pathogenic classifications of 4 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.63LOEUF

pLI 0.054

Z-score 0.73

OE 0.58 (0.23–1.63)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.03Z-score

OE missense 1.01 (0.78–1.33)

37 obs / 36.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.58 (0.23–1.63)

0≤0.351.4

Missense OE?1.01 (0.78–1.33)

0≤0.61.4

Synonymous OE?0.83

0≤1.21.6

LoF obs/exp: 2 / 3.5Missense obs/exp: 37 / 36.5Syn Z: 0.51

ClinVar Variant Classifications

4 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign4

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Synonymous	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	0	0
Likely Benign	4	4
Benign	0	0
Total	4	4

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

86 pathogenic / likely-pathogenic (of 89) ClinVar copy-number / structural variants overlap GOLGA8F — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →