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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GIMAP5
GTPase, IMAP family member 5
Chromosome 7 Β· 7q36.1
NCBI Gene: 55340Ensembl: ENSG00000196329.13HGNC: HGNC:18005UniProt: A0A090N8P9
31PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingGTPase activityendosome membranemultivesicular body membraneportal hypertension, noncirrhotic, 2portal hypertensionlymphopeniaAutoimmunity
✦AI Summary

GIMAP5 is a GTPase primarily expressed in lymphocytes and endothelial cells that regulates immune cell survival and tissue homeostasis. In T lymphocytes, GIMAP5 controls cell survival by inhibiting GSK3A, thereby impairing GSK3A-dependent transcriptional programs and DNA damage responses during T cell proliferation 1. GIMAP5 restricts pathological accumulation of long-chain ceramides by interacting with protein kinase CK2 to attenuate ceramide synthase activation, a mechanism critical for preventing cell senescence and maintaining lymphocyte function 2. GIMAP5 operates within a protein complex with MFSD1 and GLMP to maintain lymphocyte development and suppress extramedullary hematopoiesis 3. In hepatic tissue, GIMAP5 is essential for maintaining liver sinusoidal endothelial cell (LSEC) specification and prevents capillarization; its loss causes portal hypertension 4. Additionally, GIMAP5 promotes respiratory syncytial virus degradation through interaction with mannose-6-phosphate receptor 5. Clinically, GIMAP5 deficiency causes early-onset lymphopenia, liver dysfunction, and portal hypertension 42. Genetic variants in GIMAP5 increase susceptibility to systemic lupus erythematosus and inflammatory bowel disease 67. Rare variants in GIMAP5 are associated with altered HbA1c response to metformin 8.

Sources cited
1
GIMAP5 inhibits GSK3A and impairs GSK3A-dependent transcriptional programs and DNA damage response regulation during T cell proliferation
PMID: 29382851
2
GIMAP5 restricts long-chain ceramide accumulation by interacting with CK2 to regulate ceramide synthase activity, controlling cell senescence and longevity
PMID: 38172257
3
GIMAP5 functions within MFSD1-GLMP-GIMAP5 complex to maintain lymphocyte development and liver homeostasis
PMID: 38055739
4
GIMAP5 loss causes LSEC capillarization and portal hypertension; GIMAP5 is critical for liver endothelial cell homeostasis
PMID: 33956074
5
GIMAP5 promotes RSV degradation through interaction with mannose-6-phosphate receptor
PMID: 36484389
6
GIMAP5 genetic variants increase susceptibility to systemic lupus erythematosus
PMID: 17220214
7
GIMAP5 deficiency impairs immunological tolerance and lymphocyte survival, driving CD4+ T cell-mediated colitis development
PMID: 25944983
8
Rare variants in GIMAP5 are associated with HbA1c response to metformin in cardiometabolic pharmacogenetics
PMID: 40133288
Disease Associationsβ“˜21
portal hypertension, noncirrhotic, 2Open Targets
0.54Moderate
portal hypertensionOpen Targets
0.37Weak
lymphopeniaOpen Targets
0.19Weak
AutoimmunityOpen Targets
0.19Weak
ImmunodeficiencyOpen Targets
0.19Weak
liver diseaseOpen Targets
0.19Weak
immune system diseaseOpen Targets
0.19Weak
immunodeficiency diseaseOpen Targets
0.18Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.09Suggestive
early-onset non-syndromic cataractOpen Targets
0.08Suggestive
Okt4 epitope deficiencyOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.07Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.07Suggestive
X-linked corneal dermoidOpen Targets
0.07Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.07Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.07Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.07Suggestive
Portal hypertension, non-cirrhotic, 2UniProt
Pathogenic Variants3
NM_018384.5(GIMAP5):c.140T>C (p.Ile47Thr)Pathogenic
Portal hypertension|Portal hypertension, noncirrhotic, 2
β˜†β˜†β˜†β˜†2021β†’ Residue 47
NM_018384.5(GIMAP5):c.667C>T (p.Leu223Phe)Pathogenic
Portal hypertension|Portal hypertension, noncirrhotic, 2
β˜†β˜†β˜†β˜†2021β†’ Residue 223
NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu)Pathogenic
Portal hypertension|Portal hypertension, noncirrhotic, 2
β˜†β˜†β˜†β˜†2021β†’ Residue 109
View on ClinVar β†—
Related Genes
GIMAP8Protein interaction89%GIMAP7Protein interaction83%GIMAP6Protein interaction83%GIMAP1-GIMAP5Protein interaction80%BCL2Protein interaction73%GIMAP4Protein interaction71%
Tissue Expression6 tissues
Lung
100%
Heart
29%
Liver
22%
Ovary
11%
Bone Marrow
10%
Brain
5%
Gene Interaction Network
Click a node to explore
GIMAP5GIMAP8GIMAP7GIMAP6GIMAP1-GIMAP5BCL2GIMAP4
PROTEIN STRUCTURE
Preparing viewer…
PDB6Z3E Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.48–1.38]
RankingsWhere GIMAP5 stands among ~20K protein-coding genes
  • #11,717of 20,598
    Most Researched31
  • #4,112of 5,498
    Most Pathogenic Variants3
  • #14,386of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedGIMAP5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
PMID: 38172257
Nat Immunol Β· 2024
1.00
2
Both Gimap5 and the diabetogenic BBDP allele of Gimap5 induce apoptosis in T cells.
PMID: 17369194
Int Immunol Β· 2007
0.90
3
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus.
PMID: 17220214
J Med Genet Β· 2007
0.80
4
Central role of gimap5 in maintaining peripheral tolerance and T cell homeostasis in the gut.
PMID: 25944983
Mediators Inflamm Β· 2015
0.70
5
Essential role of MFSD1-GLMP-GIMAP5 in lymphocyte survival and liver homeostasis.
PMID: 38055739
Proc Natl Acad Sci U S A Β· 2023
0.60