GOLGA6L2

Chr 15

golgin A6 family like 2

Also known as: CT105

NCBI Gene: 283685ENSG00000174450UniProt: Q8N9W4

The GOLGA6L2 protein is predicted to be located in the cis-Golgi network. This gene is highly constrained against loss-of-function variants (pLI near 1.0), suggesting it is likely essential for normal cellular function, though no specific disease associations have been established to date.

ResearchSummary from RefSeq
GOFmechanismLOEUF 1.23
Clinical Summary— GOLGA6L2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.23LOEUF
pLI 0.000
Z-score 0.91
OE 0.74 (0.47–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.60Z-score
OE missense 0.92 (0.85–1.00)
432 obs / 468.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.74 (0.47–1.23)
0≤0.351.4
Missense OE0.92 (0.85–1.00)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 11 / 14.8Missense obs/exp: 432 / 468.6Syn Z: 1.01
DN
0.5673th %ile
GOF
0.6345th %ile
LOF
0.3745th %ile

The highest-scoring mechanism for this gene is gain-of-function.

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

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOLGA6L2 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics
Wang WC et al.·Hum Genomics
2022
Tumor Suppressive Role of MUC6 in Wilms Tumor via Autophagy-Dependent beta-Catenin Degradation
Liu BH et al.·Front Oncol
2022
BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
Ebrahimi A et al.·Acta Neuropathol Commun
2024
Discovery of mutated oncodriver genes associated with glioblastoma originated from stem cells of subventricular zone through whole exome sequence profile analysis, and drug repurposing
Sarker A et al.·Heliyon
2025
Whole-genome analysis of monozygotic Brazilian twins discordant for type 1 narcolepsy: a case report
Campos JHC et al.·BMC Neurol
2022Case report
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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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