GRXCR2
Glutaredoxin Cysteine Rich 2
Gene Information Card
| Symbol | GRXCR2 |
|---|---|
| Full Name | Glutaredoxin Cysteine Rich 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 152007 ncbi.nlm.nih.gov/gene/152007 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 615762 |
| HGNC ID | 28308 |
| Aliases | C5orf34, DFNB101 |
Description
GRXCR2 encodes a glutaredoxin cysteine-rich protein that is essential for normal hearing. It is involved in the maintenance of stereocilia bundles in cochlear hair cells. Mutations in this gene cause autosomal recessive nonsyndromic hearing loss (DFNB101).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB101) | Loss-of-function mutations in GRXCR2 disrupt stereocilia bundle integrity in inner ear hair cells, leading to sensorineural hearing loss. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | N/A | High |
| Testis | N/A | Moderate |
| Kidney | N/A | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | N/A | Low expression |
| HeLa | N/A | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of translation initiation |
| c.418_419del (p.Leu140Glufs*3) | Frameshift | Rare | Frameshift and premature termination |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function (nonsense, frameshift, start loss) leading to absent or nonfunctional protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glutaredoxin activity | • protein glutaredoxinylation |
| • inner ear morphogenesis | • sensory perception of sound |
Pathways
• Hearing (auditory system)
• Glutaredoxin pathway
Protein Summary
GRXCR2 is a small cysteine-rich protein with glutaredoxin-like domains. It localizes to the stereocilia of cochlear hair cells and is required for their proper organization and function. Loss of GRXCR2 leads to progressive hearing loss in humans.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRXCR2 Knockout HEK293 Cell Line | EDJ-KQ13689 | Human | 643226 | Details Get a Quote |
| GRXCR2 Knockout HeLa Cell Line | EDJ-KQ60539 | Human | 643226 | Details Get a Quote |
| GRXCR2 Knockout A-549 Cell Line | EDJ-KQ69009 | Human | 643226 | Details Get a Quote |
| GRXCR2 Knockout HCT 116 Cell Line | EDJ-KQ77366 | Human | 643226 | Details Get a Quote |
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