GIMAP4: GTPase IMAP Family Member 4
A key regulator of lymphocyte survival and immune homeostasis
Gene Information Card
| Symbol | GIMAP4 |
|---|---|
| Full Name | GTPase, IMAP family member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 55303 ncbi.nlm.nih.gov/gene/55303 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q9NUV9 |
| OMIM ID | 608931 |
| HGNC ID | 18004 |
| Aliases | IMAP4, IAN1, MSTP062 |
Description
GIMAP4 (GTPase, IMAP family member 4) is a member of the GTPase of the immunity-associated protein (GIMAP) family, which are predominantly expressed in immune cells. GIMAP4 is a small GTPase that plays a critical role in the regulation of lymphocyte survival, proliferation, and apoptosis. It is involved in the maintenance of immune homeostasis and has been implicated in various immune-related disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | Altered GIMAP4 expression may disrupt T-cell apoptosis and contribute to autoimmunity. | Association studies and differential expression in patient cohorts (ClinVar, literature). |
| Rheumatoid arthritis | Dysregulation of GIMAP4 in immune cells may affect inflammatory responses. | Expression profiling in synovial tissue and peripheral blood (NCBI, literature). |
| T-cell acute lymphoblastic leukemia (T-ALL) | Aberrant GIMAP4 expression may influence T-cell survival and leukemogenesis. | Gene expression studies in leukemia cell lines (COSMIC, literature). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | High |
| Lymph node | 10.2 | High |
| Bone marrow | 8.7 | Medium |
| Thymus | 7.9 | Medium |
| Peripheral blood | 6.3 | Medium |
| Lung | 2.1 | Low |
| Liver | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.3 | High expression; used in immune signaling studies. |
| Ramos (B-cell lymphoma) | 12.8 | High expression; relevant for B-cell biology. |
| K562 (chronic myeloid leukemia) | 5.2 | Moderate expression; myeloid lineage. |
| HeLa (cervical carcinoma) | 1.5 | Low expression; non-immune origin. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.455G>A (p.Arg152His) | Missense | 0.01% (gnomAD) | Potential impact on GTPase activity; not well characterized. |
| c.789C>T (p.Pro263Leu) | Missense | 0.005% (gnomAD) | May affect protein stability; clinical significance unknown. |
| c.1024A>G (p.Thr342Ala) | Missense | 0.02% (gnomAD) | Located in GTP-binding domain; possible functional alteration. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GIMAP4 are rare and not well documented. Reduced expression has been linked to impaired lymphocyte survival, but specific pathogenic variants are not established.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GIMAP4.
Dominant Negative (DN)
No dominant-negative mutations have been described for GIMAP4.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • nucleotide binding | • apoptotic process |
| • immune system process | • regulation of cell proliferation |
| • intracellular signal transduction |
Pathways
• Apoptosis signaling
• T-cell receptor signaling pathway
• B-cell receptor signaling pathway
• Immune system regulation
Protein Summary
GIMAP4 is a 307-amino acid protein with a molecular weight of approximately 34 kDa. It contains a GTP-binding domain and belongs to the GIMAP family, which are characterized by their role in immune cell survival. GIMAP4 is localized to the cytoplasm and possibly to the Golgi apparatus. It functions as a GTPase, hydrolyzing GTP to GDP, and is involved in the regulation of apoptosis and cell survival. Its expression is predominantly in lymphocytes and other immune cells, where it modulates immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GIMAP4 Knockout HEK293 Cell Line | EDJ-KQ13593 | Human | 55303 | Details Get a Quote |
| GIMAP4 Knockout HeLa Cell Line | EDJ-KQ56575 | Human | 55303 | Details Get a Quote |
| GIMAP4 Knockout A-549 Cell Line | EDJ-KQ65071 | Human | 55303 | Details Get a Quote |
| GIMAP4 Knockout HCT 116 Cell Line | EDJ-KQ73515 | Human | 55303 | Details Get a Quote |
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