GIMAP7: GTPase, IMAP Family Member 7
A key regulator of lymphocyte survival and immune homeostasis
Gene Information Card
| Symbol | GIMAP7 |
|---|---|
| Full Name | GTPase, IMAP Family Member 7 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 168537 ncbi.nlm.nih.gov/gene/168537 |
| Ensembl ID | ENSG00000179144 |
| UniProt ID | Q9UKY7 |
| OMIM ID | 616963 |
| HGNC ID | 18020 |
| Aliases | IMAP7, IAN7, hIAN7 |
Description
GIMAP7 (GTPase, IMAP Family Member 7) is a member of the GTPase of the immunity-associated protein (GIMAP) family, which is predominantly expressed in lymphoid tissues and plays a critical role in lymphocyte survival, proliferation, and immune regulation. The encoded protein localizes to the Golgi apparatus and endoplasmic reticulum, and its GTPase activity is essential for maintaining T-cell homeostasis. GIMAP7 is involved in the regulation of apoptosis and cell cycle progression in immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Altered GIMAP7 expression may disrupt lymphocyte apoptosis and contribute to autoimmunity. | GWAS studies (PMID: 24097068) |
| Rheumatoid arthritis | Dysregulation of GIMAP7 in T-cells may promote chronic inflammation. | Expression profiling (PMID: 25687183) |
| T-cell lymphoma | Aberrant GIMAP7 expression linked to impaired T-cell survival and oncogenesis. | Case-control studies (PMID: 27626308) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | High |
| Lymph node | 10.8 | High |
| Thymus | 9.2 | High |
| Bone marrow | 6.1 | Medium |
| Lung | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.0 | High expression |
| Raji (Burkitt lymphoma) | 8.5 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341G>A (p.Arg114His) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% (gnomAD) | Potential loss of GTPase activity |
Mutation functional classification
Loss of Function (LOF)
p.Arg168Trp may impair GTP binding and reduce protein stability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data:
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • intracellular membrane-bounded organelle | • Golgi apparatus |
| • endoplasmic reticulum | • regulation of lymphocyte apoptotic process |
| • immune system process |
Pathways
• GIMAP family in T-cell survival (Reactome: R-HSA-8866907)
• GTPase cycle (Reactome: R-HSA-9013408)
Protein Summary
GIMAP7 is a 308-amino acid protein belonging to the GIMAP family, characterized by a conserved GTP-binding domain. It is predominantly expressed in lymphoid tissues and localizes to the Golgi and ER. The protein functions as a small GTPase that regulates lymphocyte survival and apoptosis. Its expression is critical for maintaining immune homeostasis, and dysregulation is associated with autoimmune diseases and lymphoid malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIMAP7 Knockout HEK293 Cell Line | EDJ-KQ13594 | Human | 168537 | Details Get a Quote |
| GIMAP7 Knockout HeLa Cell Line | EDJ-KQ58917 | Human | 168537 | Details Get a Quote |
| GIMAP7 Knockout A-549 Cell Line | EDJ-KQ67405 | Human | 168537 | Details Get a Quote |
| GIMAP7 Knockout HCT 116 Cell Line | EDJ-KQ75799 | Human | 168537 | Details Get a Quote |
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