GOLGA8O

Chr 15

golgin A8 family member O

NCBI Gene: 728047 ENSG00000206127 UniProt: A6NCC3

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 shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.9), and no established disease associations have been reported in the provided data. Clinical significance of variants in this gene remains uncertain.

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…

MultiplemechanismLOEUF 1.91

Clinical Summary— GOLGA8O

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

2 total variants — no pathogenic classifications of 2 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.91LOEUF

pLI 0.000

Z-score -0.86

OE 1.36 (0.80–1.91)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-2.32Z-score

OE missense 2.00 (1.61–1.99)

86 obs / 43.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.36 (0.80–1.91)

0≤0.351.4

Missense OE?2.00 (1.61–1.99)

0≤0.61.4

Synonymous OE?1.75

0≤1.21.6

LoF obs/exp: 9 / 6.6Missense obs/exp: 86 / 43.1Syn Z: -2.45

This gene — mechanism propensity

0.7133th %ile

GOF

0.73top 25%

LOF

0.2775th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign2

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	2	2
Benign	0	0
Total	2	2

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

View in ClinVar →

54 pathogenic / likely-pathogenic (of 75) ClinVar copy-number / structural variants overlap GOLGA8O — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →