GRXCR2

Protein identityUniProt · HPA

UniProt accession

A6NFK2

Gene

GRXCR2

Ensembl

ENSG00000204928

Chromosome

5

Canonical length

248 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

248 residues, UniProt reviewed canonical sequence.

>A6NFK2|GRXCR2
     1  MEDPEKKLNQ KSDGKPRKVR FKISSSYSGR VLKQVFEDGQ ELESPKEEYP HSFLQESLET
    61  MDGVYGSGEV PRPQMCSPKL TAQRISVFRE GNAYTLAGGQ PRFNDYKAND HKPLPIIDFG
   121  KIIIYTNNLK IIRTPMDKRD FVRKILQKEE EAEEESLMNK EESYGGRDQH DRPLVEAEST
   181  LPQNRYTQEG DIPEDSCFHC RGSGSATCSL CHGSKFSMLA NRFKESYRAL RCPACNENGL
   241  QPCQICNQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GRXCR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

0.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GRXCR2.

Disease | AllUniProt

Conditions GRXCR2 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 101 (DFNB101) MIM:615837

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 106 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 101
• Hearing loss, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.57

gnomAD pLI

0

gnomAD missense Z

-0.85

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• auditory receptor cell stereocilium organization
• sensory perception of sound

Cellular components

• microvillus
• stereocilium base
• stereocilium shaft

Protein domainsUniProt · Pfam · InterPro

• Heat shock protein DnaJ, cysteine-rich domain superfamily
• GRXCR1/2, C-terminal domain
• Glutaredoxin domain-containing cysteine-rich protein 2

KeywordsUniProt

• Cell projection
• Deafness
• Hearing
• Non-syndromic deafness

InteractionsUniProt · HPA

Protein binding partners of GRXCR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TPRN