MGARP Gene - Mitochondria Localized Glutamic Acid Rich Protein
Comprehensive gene information for MGARP, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | MGARP |
|---|---|
| Full Name | Mitochondria Localized Glutamic Acid Rich Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 100288332 ncbi.nlm.nih.gov/gene/100288332 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | Q8N5G2 |
| OMIM ID | 615703 |
| HGNC ID | 33732 |
| Aliases | C4orf52, MGC45871, PRO0971 |
Description
MGARP (Mitochondria Localized Glutamic Acid Rich Protein) is a protein-coding gene located on chromosome 4q32.1. The encoded protein is characterized by a glutamic acid-rich region and localizes to mitochondria. It is involved in mitochondrial function and may play a role in cellular energy metabolism. Expression is enriched in tissues with high metabolic demand, such as heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian Cancer | Altered expression of MGARP may influence mitochondrial dynamics and apoptosis in ovarian cells. | PMID: 25636840 |
| Endometrial Cancer | MGARP expression is dysregulated in endometrial tumors, potentially affecting mitochondrial function. | PMID: 27107052 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 2.1 | Low |
| Kidney | 1.5 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.4 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional impact |
| c.412G>A (p.Glu138Lys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • mitochondrial inner membrane |
| • protein binding |
Pathways
• Mitochondrial biogenesis
• Oxidative phosphorylation
Protein Summary
The MGARP protein is a 203-amino acid polypeptide with a glutamic acid-rich domain. It localizes to the mitochondrial inner membrane and is thought to participate in mitochondrial cristae organization and energy production. Expression is highest in oxidative tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGARP Knockout HEK293 Cell Line | EDJ-KQ10177 | Human | 84709 | Details Get a Quote |
| MGARP Knockout A-549 Cell Line | EDJ-KQ37295 | Human | 84709 | Details Get a Quote |
| MGARP Knockout HeLa Cell Line | EDJ-KQ57655 | Human | 84709 | Details Get a Quote |
| MGARP Knockout HCT 116 Cell Line | EDJ-KQ74580 | Human | 84709 | Details Get a Quote |
