GRPEL2
GrpE Like 2, Mitochondrial
Gene Information Card
| Symbol | GRPEL2 |
|---|---|
| Full Name | GrpE Like 2, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 134218 ncbi.nlm.nih.gov/gene/134218 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | Q8TAA5 |
| OMIM ID | 618677 |
| HGNC ID | 29067 |
| Aliases | FLJ10618, MGC13170 |
Description
GRPEL2 encodes a mitochondrial protein that functions as a nucleotide exchange factor for the mitochondrial heat shock protein HSPA9 (mortalin). It is involved in protein import and folding within mitochondria, playing a role in cellular stress responses and mitochondrial homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease | Impaired protein import/folding due to GRPEL2 dysfunction | Limited; inferred from functional homology to GRPEL1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.1 | Low |
| Brain | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial matrix | • protein folding |
| • ATP binding | • chaperone cofactor-dependent protein refolding |
Pathways
• Mitochondrial protein import
• Protein folding in mitochondria
Protein Summary
GRPEL2 is a 217-amino-acid mitochondrial protein that acts as a nucleotide exchange factor for HSPA9, facilitating ADP-ATP exchange and promoting protein folding in the mitochondrial matrix. It is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRPEL2 Knockout HEK293 Cell Line | EDJ-KQ9335 | Human | 134266 | Details Get a Quote |
| GRPEL2 Knockout HCT 116 Cell Line | EDJ-KQ35965 | Human | 134266 | Details Get a Quote |
| GRPEL2 Knockout HeLa Cell Line | EDJ-KQ35966 | Human | 134266 | Details Get a Quote |
| GRPEL2 Knockout A-549 Cell Line | EDJ-KQ34724 | Human | 134266 | Details Get a Quote |
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