GRXCR2

Chr 5q32

glutaredoxin and cysteine rich domain containing 2

Aliases:: DFNB101
MANE:: ENST00000377976.3

OMIM: 615762 ↗NCBI: 643226 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GRXCR2 · A6NFK2

v62025-08-01

Predicted Aligned Error matrix for GRXCR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.5/ 100

Low

248 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)30%
Low(50–70)28%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.60
deafness
0.53
benign chondrogenic neoplasm
0.26
Non-syndromic genetic deafness
0.21
nonsyndromic genetic hearing loss
0.18
autosomal dominant nonsyndromic hearing loss
0.12
autosomal recessive nonsyndromic hearing loss 102
0.10
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
0.10
deafness, aminoglycoside-induced
0.10
autosomal dominant nonsyndromic hearing loss 7
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glutaredoxin domain-containing cysteine-rich protein 2

Required for hearing (By similarity). Plays a role in maintaining cochlear stereocilia bundles that are involved in sound detection (PubMed:24619944). Ensures the restriction of TPRN to the basal region of stereocilia in hair cells (By similarity)