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.

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 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
Displaying Records 1 To 4 Of 4 Records
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