GOLGA8G

Chr 15

golgin A8 family member G

NCBI Gene: 283768ENSG00000183629UniProt: P0DX53

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. No established human diseases have been associated with mutations in this gene. The gene shows tolerance to loss-of-function variants with a relatively high LOEUF score of 1.55.

ResearchSummary from RefSeq
MultiplemechanismLOEUF 1.55
Clinical Summary— GOLGA8G
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.20) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
49 unique Pathogenic / Likely Pathogenic· 2 VUS of 54 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
1.55LOEUF
pLI 0.196
Z-score 0.96
OE 0.37 (0.13–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.33Z-score
OE missense 1.18 (0.89–1.58)
32 obs / 27.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.37 (0.13–1.55)
0≤0.351.4
Missense OE1.18 (0.89–1.58)
0≤0.61.4
Synonymous OE1.40
0≤1.21.6
LoF obs/exp: 1 / 2.7Missense obs/exp: 32 / 27.1Syn Z: -1.03
DN
0.74top 25%
GOF
0.80top 10%
LOF
0.2387th %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

54 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic48
Likely Pathogenic1
VUS2
Likely Benign2
Benign1
48
Pathogenic
1
Likely Pathogenic
2
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————48
Likely Pathogenic
————1
VUS
————2
Likely Benign
————2
Benign
————1
Total—54

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GOLGA8G · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients