GIMAP6

Chr 7

GTPase, IMAP family member 6

Also known as: IAN-2, IAN-6, IAN2, IAN6

NCBI Gene: 474344ENSG00000133561UniProt: Q6P9H5

This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]

0
Active trials
69
Pathogenic / LP
141
ClinVar variants
3
Pubs (1 yr)
0.3
Missense Z
1.76
LOEUF
Clinical Summary— GIMAP6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.14) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
69 Pathogenic / Likely Pathogenic· 60 VUS of 141 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.76LOEUF
pLI 0.142
Z-score 0.62
OE 0.52 (0.17–1.76)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.29Z-score
OE missense 0.94 (0.82–1.07)
151 obs / 161.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.52 (0.17–1.76)
0≤0.351.4
Missense OE0.94 (0.82–1.07)
0≤0.61.4
Synonymous OE1.19
0≤1.21.6
LoF obs/exp: 1 / 1.9Missense obs/exp: 151 / 161.5Syn Z: -1.29
GOFDN
DN
0.75top 25%
GOF
0.88top 5%
LOF
0.1894th %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

141 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic65
Likely Pathogenic4
VUS60
Likely Benign5
Benign7
65
Pathogenic
4
Likely Pathogenic
60
VUS
5
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
65
0
65
Likely Pathogenic
0
0
4
0
4
VUS
0
49
11
0
60
Likely Benign
0
5
0
0
5
Benign
1
3
1
2
7
Total157812141

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

View in ClinVar →

GIMAP6 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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