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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GIMAP6
GTPase, IMAP family member 6
Chromosome 7 · 7q36.1
NCBI Gene: 474344Ensembl: ENSG00000133561.15HGNC: HGNC:21918UniProt: B4DH95
21PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolGTPase activityGTP bindingOral ulcervenous thromboembolismcervical carcinomaIschemic stroke
✦AI Summary

GIMAP6 is a GTPase that plays critical roles in immune system function, autophagy regulation, and vascular homeostasis. The protein complexes with GABARAPL2 and GIMAP7 to regulate GTPase activity and is essential for proper autophagic processes 1. GIMAP6 is required for maintaining peripheral T cell populations, with deficiency leading to 50-70% reduction in CD4+ and CD8+ T cells and disrupted autophagy characterized by increased LC3-II levels and SQSTM1 phosphorylation 2. The protein is induced by IFN-γ and plays a crucial role in antibacterial immunity 1. GIMAP6 deficiency causes a severe primary immunodeficiency syndrome in humans, presenting with infections, lymphoproliferation, autoimmunity, and multiorgan vasculitis 1. Patients show accelerated lymphocyte apoptosis and variable clinical severity, ranging from asymptomatic to recurrent sinopulmonary infections with lymphopenia 3. Importantly, GIMAP6 loss causes inflammatory vasculopathy and accelerated atherosclerosis independent of hyperlipidemia, leading to premature cardiovascular disease and early death 4. The protein demonstrates cell-type-specific expression patterns and serves as a biomarker in various diseases, including lung adenocarcinoma and acute myocardial infarction 56.

Sources cited
1
GIMAP6 complexes with GABARAPL2 and GIMAP7, is induced by IFN-γ, plays role in antibacterial immunity, and deficiency causes immunodeficiency with infections, autoimmunity, and vasculitis
PMID: 35551368
2
GIMAP6 is required for T cell maintenance with 50-70% reduction in peripheral T cells when deficient, and essential for proper autophagy with increased LC3-II and SQSTM1 phosphorylation in deficient cells
PMID: 29718959
3
Human GIMAP6 deficiency causes accelerated lymphocyte apoptosis with variable clinical severity from asymptomatic to recurrent infections with lymphopenia
PMID: 33328581
4
GIMAP6 loss causes inflammatory vasculopathy and accelerated atherosclerosis independent of hyperlipidemia, leading to premature cardiovascular disease and early death
PMID: 41743988
5
GIMAP6 serves as a prognostic biomarker in lung adenocarcinoma and is involved in immune microenvironment regulation
PMID: 37338641
6
GIMAP6 demonstrates cell-type-specific expression and serves as a biomarker in acute myocardial infarction
PMID: 40133574
Disease Associationsⓘ20
Oral ulcerOpen Targets
0.22Weak
venous thromboembolismOpen Targets
0.21Weak
cervical carcinomaOpen Targets
0.20Weak
Ischemic strokeOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
MODYOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
22q11.2 deletion syndromeOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
FTH1-related iron overloadOpen Targets
0.04Suggestive
hemochromatosis type 5Open Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
combined oxidative phosphorylation deficiency 41Open Targets
0.04Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.04Suggestive
diabetes mellitus, transient neonatal, 3Open Targets
0.04Suggestive
Pathogenic Variants1
NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter)Likely pathogenic
Primary Immune Deficiency|not provided
★☆☆☆2019→ Residue 86
View on ClinVar ↗
Related Genes
GIMAP4Protein interaction83%GIMAP5Protein interaction83%GIMAP8Protein interaction83%GIMAP1Protein interaction83%GIMAP1-GIMAP5Protein interaction80%GIMAP7Protein interaction65%
Tissue Expression6 tissues
Heart
100%
Lung
77%
Liver
12%
Brain
11%
Ovary
11%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
GIMAP6GIMAP4GIMAP5GIMAP8GIMAP1GIMAP1-GIMAP5GIMAP7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6P9H5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.45–1.39]
RankingsWhere GIMAP6 stands among ~20K protein-coding genes
  • #13,917of 20,598
    Most Researched21
  • #5,363of 5,498
    Most Pathogenic Variants1
  • #14,418of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedGIMAP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.
PMID: 35551368
J Exp Med · 2022
1.00
2
Investigation and verification of GIMAP6 as a robust biomarker for prognosis and tumor immunity in lung adenocarcinoma.
PMID: 37338641
J Cancer Res Clin Oncol · 2023
0.90
3
Uncovering Hippo pathway-related biomarkers in acute myocardial infarction via scRNA-seq binding transcriptomics.
PMID: 40133574
Sci Rep · 2025
0.80
4
Decoding IBD progression: a dynamic biomarker atlas for personalized disease stratification.
PMID: 41074150
J Transl Med · 2025
0.70
5
GIMAP6 is required for T cell maintenance and efficient autophagy in mice.
PMID: 29718959
PLoS One · 2018
0.60