GMIP Gene - GEM Interacting Protein

Comprehensive gene information for GMIP, including function, expression, and disease associations.

Gene Information Card

Symbol GMIP
Full Name GEM Interacting Protein
Gene Type protein-coding
Chromosomal Location 19p13.11
NCBI Gene ID 51291 ncbi.nlm.nih.gov/gene/51291
Ensembl ID ENSG00000104853
UniProt ID Q9P107
OMIM ID 609499
HGNC ID 24826
Aliases GEMIN7, GEM-interacting protein

Description

GMIP (GEM Interacting Protein) encodes a protein that interacts with the Ras-like small GTPase GEM, playing a role in cytoskeletal reorganization and signal transduction. The gene is located on chromosome 19p13.11 and is expressed in various tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association reported N/A No direct evidence from ClinVar or OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 8.5 Medium
Heart 6.2 Medium
Liver 4.1 Low
Kidney 5.8 Medium
Lung 7.3 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.2 High expression
HeLa 7.8 Medium expression
K562 5.4 Low expression
A549 6.9 Medium expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.123C>T missense <0.01% Unknown
c.456G>A synonymous <0.01% Unknown
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Gene Ontology (GO)

• GTPase activator activity • protein binding
• cytosol • cytoplasm

Pathways

Rho GTPase signaling
Cytoskeletal regulation

Protein Summary

The GMIP protein is a 396-amino acid protein that acts as a GTPase-activating protein (GAP) for the GEM GTPase, modulating cytoskeletal dynamics and cell morphology.

Related Products

Product name Cat.No. Species Gene ID
GMIP Knockout HEK293 Cell Line EDJ-KQ11017 Human 51291 Details Get a Quote
GMIP Knockout HCT 116 Cell Line EDJ-KQ37599 Human 51291 Details Get a Quote
GMIP Knockout A-549 Cell Line EDJ-KQ38900 Human 51291 Details Get a Quote
GMIP Knockout HeLa Cell Line EDJ-KQ38902 Human 51291 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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