GRCR2_HUMAN
ID GRCR2_HUMAN Reviewed; 248 AA.
AC A6NFK2;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 89.
DE RecName: Full=Glutaredoxin domain-containing cysteine-rich protein 2;
DE AltName: Full=GRXCR1-like protein;
DE AltName: Full=Glutaredoxin domain-containing cysteine-rich protein 1-like protein;
GN Name=GRXCR2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP INVOLVEMENT IN DFNB101, AND FUNCTION.
RX PubMed=24619944; DOI=10.1002/humu.22545;
RA Imtiaz A., Kohrman D.C., Naz S.;
RT "A frameshift mutation in GRXCR2 causes recessively inherited hearing
RT loss.";
RL Hum. Mutat. 35:618-624(2014).
CC -!- FUNCTION: Could play a role in maintaining cochlear stereocilia bundles
CC that are involved in sound detection. {ECO:0000269|PubMed:24619944}.
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}.
CC -!- DISEASE: Deafness, autosomal recessive, 101 (DFNB101) [MIM:615837]: A
CC form of non-syndromic deafness characterized by bilateral, moderate to
CC severe hearing loss. Vestibular function is unaffected.
CC {ECO:0000269|PubMed:24619944}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the GRXCR1 family. {ECO:0000305}.
CC -!- CAUTION: Although it shares high sequence similarity with GRXCR1, it
CC does not contain a canonical glutaredoxin domain. {ECO:0000305}.
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DR EMBL; AC011359; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS34263.1; -.
DR RefSeq; NP_001073985.1; NM_001080516.1.
DR AlphaFoldDB; A6NFK2; -.
DR SMR; A6NFK2; -.
DR IntAct; A6NFK2; 1.
DR STRING; 9606.ENSP00000367214; -.
DR iPTMnet; A6NFK2; -.
DR PhosphoSitePlus; A6NFK2; -.
DR BioMuta; GRXCR2; -.
DR PaxDb; A6NFK2; -.
DR PeptideAtlas; A6NFK2; -.
DR PRIDE; A6NFK2; -.
DR Antibodypedia; 71010; 16 antibodies from 8 providers.
DR DNASU; 643226; -.
DR Ensembl; ENST00000377976.3; ENSP00000367214.1; ENSG00000204928.3.
DR GeneID; 643226; -.
DR KEGG; hsa:643226; -.
DR MANE-Select; ENST00000377976.3; ENSP00000367214.1; NM_001080516.2; NP_001073985.1.
DR UCSC; uc003lns.1; human.
DR CTD; 643226; -.
DR DisGeNET; 643226; -.
DR GeneCards; GRXCR2; -.
DR HGNC; HGNC:33862; GRXCR2.
DR HPA; ENSG00000204928; Not detected.
DR MalaCards; GRXCR2; -.
DR MIM; 615762; gene.
DR MIM; 615837; phenotype.
DR neXtProt; NX_A6NFK2; -.
DR OpenTargets; ENSG00000204928; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA164720311; -.
DR VEuPathDB; HostDB:ENSG00000204928; -.
DR eggNOG; KOG2824; Eukaryota.
DR GeneTree; ENSGT00940000158849; -.
DR HOGENOM; CLU_067117_0_0_1; -.
DR InParanoid; A6NFK2; -.
DR OMA; NDHKPPP; -.
DR OrthoDB; 1046721at2759; -.
DR PhylomeDB; A6NFK2; -.
DR TreeFam; TF315372; -.
DR Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR SignaLink; A6NFK2; -.
DR BioGRID-ORCS; 643226; 14 hits in 1062 CRISPR screens.
DR ChiTaRS; GRXCR2; human.
DR GenomeRNAi; 643226; -.
DR Pharos; A6NFK2; Tbio.
DR PRO; PR:A6NFK2; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; A6NFK2; protein.
DR Bgee; ENSG00000204928; Expressed in apex of heart and 17 other tissues.
DR ExpressionAtlas; A6NFK2; baseline and differential.
DR GO; GO:0005902; C:microvillus; IMP:MGI.
DR GO; GO:0120044; C:stereocilium base; IBA:GO_Central.
DR GO; GO:0120043; C:stereocilium shaft; IBA:GO_Central.
DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; IEA:Ensembl.
DR GO; GO:0033365; P:protein localization to organelle; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR InterPro; IPR033023; GRXCR2.
DR InterPro; IPR036410; HSP_DnaJ_Cys-rich_dom_sf.
DR PANTHER; PTHR46926; PTHR46926; 1.
DR SUPFAM; SSF57938; SSF57938; 1.
PE 3: Inferred from homology;
KW Cell projection; Deafness; Non-syndromic deafness; Reference proteome.
FT CHAIN 1..248
FT /note="Glutaredoxin domain-containing cysteine-rich protein
FT 2"
FT /id="PRO_0000349191"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 150..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 181
FT /note="L -> F (in dbSNP:rs2569006)"
FT /id="VAR_060192"
SQ SEQUENCE 248 AA; 28284 MW; A1B6A7DD91ED2123 CRC64;
MEDPEKKLNQ KSDGKPRKVR FKISSSYSGR VLKQVFEDGQ ELESPKEEYP HSFLQESLET
MDGVYGSGEV PRPQMCSPKL TAQRISVFRE GNAYTLAGGQ PRFNDYKAND HKPLPIIDFG
KIIIYTNNLK IIRTPMDKRD FVRKILQKEE EAEEESLMNK EESYGGRDQH DRPLVEAEST
LPQNRYTQEG DIPEDSCFHC RGSGSATCSL CHGSKFSMLA NRFKESYRAL RCPACNENGL
QPCQICNQ
