GRXCR2 (glutaredoxin and cysteine rich domain containing 2)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
643226
Gene name Gene Name - the full gene name approved by the HGNC.
Glutaredoxin and cysteine rich domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRXCR2
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB101
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs587777424 ->A Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005902 Component Microvillus IBA
GO:0005902 Component Microvillus IEA
GO:0005902 Component Microvillus IMP 24619944
GO:0007605 Process Sensory perception of sound IBA
GO:0007605 Process Sensory perception of sound IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615762 33862 ENSG00000204928
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID A6NFK2
Protein name Glutaredoxin domain-containing cysteine-rich protein 2 (GRXCR1-like protein) (Glutaredoxin domain-containing cysteine-rich protein 1-like protein)
Protein function 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 similarit
Family and domains
Sequence 
MEDPEKKLNQKSDGKPRKVRFKISSSYSGRVLKQVFEDGQELESPKEEYPHSFLQESLET
MDGVYGSGEVPRPQMCSPKLTAQRISVFREGNAYTLAGGQPRFNDYKANDHKPLPIIDFG
KIIIYTNNLKIIRTPMDKRDFVRKILQKEEEAEEESLMNKEESYGGRDQHDRPLVEAEST
LPQNRYTQEGDIPEDSCFHCRGSGSATCSLCHGSKFSMLANRFKESYRALRCPACNENGL
QPCQICNQ
Sequence length 248
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 101 rs587777424 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Deafness Associate 32048449
Hearing Loss Associate 33528103
Nonsyndromic Deafness Associate 33528103