GRXCR2
entrez
643226
canonical
uniprot
A6NFK2
canonical
ensembl
ENSG00000204928
resolver
ensp
ENSP00000367214
resolver
enst
ENST00000377976
resolver
genesymbol
GRXCR2
resolver
hgnc
HGNC:33862
resolver
uniprot_entry
GRCR2_HUMAN
resolver
amino_acid_sequence
MEDPEKKLNQKSDGKPRKVRFKISSSYSGRVLKQVFEDGQELESPKEEYPHSFLQESLETMDGVYGSGEVPRPQMCSPKLTAQRISVFREGNAYTLAGGQPRFNDYKANDHKPLPIIDFGKIIIYTNNLKIIRTPMDKRDFVRKILQKEEEAEEESLMNKEESYGGRDQHDRPLVEAESTLPQNRYTQEGDIPEDSCFHCRGSGSATCSLCHGSKFSMLANRFKESYRALRCPACNENGLQPCQICNQ
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 101 (DFNB101) [MIM:615837]: A form of non-syndromic deafness characterized by bilateral, moderate to severe hearing loss. Vestibular function is unaffected. {ECO:0000269|PubMed:24619944}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 similarity). {ECO:0000250|UniProtKB:Q3TYR5, ECO:0000269|PubMed:24619944}.
uniprot
proteins
mass_dalton
28284
uniprot
proteins
protein_family
GRXCR2 family
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
24619944
uniprot
proteins
sequence_length
248
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250|UniProtKB:Q3TYR5}. Note=Concentrated at the basal taper region of stereocilia in early postnatal development. In adult hair cells, concentrated at the basal region but also detected along the stereocilium shaft. {ECO:0000250|UniProtKB:Q3TYR5}.
uniprot
proteins