GOLGA8K

Chr 15

golgin A8 family member K

NCBI Gene: 653125ENSG00000249931UniProt: D6RF30

The protein is predicted to be involved in organizing the Golgi apparatus, specifically localizing to the cis-Golgi network and cisterna membranes. This gene shows extremely low constraint against loss-of-function variants (pLI near zero, high LOEUF of 1.9), and no disease associations have been established for mutations in GOLGA8K. Based on current evidence, pathogenic variants in this gene have not been confirmed to cause pediatric neurological disorders.

ResearchSummary from RefSeq
MultiplemechanismLOEUF 1.92
Clinical Summary— GOLGA8K
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 unique Pathogenic / Likely Pathogenic· 7 VUS of 43 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
1.92LOEUF
pLI 0.000
Z-score -1.40
OE 1.48 (0.96–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.87Z-score
OE missense 1.26 (1.08–1.47)
112 obs / 88.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.48 (0.96–1.92)
0≤0.351.4
Missense OE1.26 (1.08–1.47)
0≤0.61.4
Synonymous OE1.49
0≤1.21.6
LoF obs/exp: 15 / 10.2Missense obs/exp: 112 / 88.9Syn Z: -2.27
DN
0.76top 25%
GOF
0.74top 25%
LOF
0.2678th %ile

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

DNprediction above median
GOFprediction 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

43 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
VUS7
Likely Benign10
Conflicting4
22
Pathogenic
7
VUS
10
Likely Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
0
0
0
VUS
0
0
7
0
7
Likely Benign
0
3
1
6
10
Benign
0
0
0
0
0
Conflicting
—4
Total0330643

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

View in ClinVar →

Protein Context — Lollipop Plot

GOLGA8K · 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 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
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