Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Glutaredoxin domain-containing cysteine-rich protein 2

Gene

GRXCR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Protein inferred from homologyi

Functioni

Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection.1 Publication

GO - Biological processi

  • sensory perception of sound Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Glutaredoxin domain-containing cysteine-rich protein 2
Alternative name(s):
GRXCR1-like protein
Glutaredoxin domain-containing cysteine-rich protein 1-like protein
Gene namesi
Name:GRXCR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:33862. GRXCR2.

Subcellular locationi

GO - Cellular componenti

  • microvillus Source: MGI
  • stereocilium Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 101 (DFNB101)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by bilateral, moderate to severe hearing loss. Vestibular function is unaffected.
See also OMIM:615837

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MalaCardsiGRXCR2.
MIMi615837. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA164720311.

Polymorphism and mutation databases

BioMutaiGRXCR2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 248248Glutaredoxin domain-containing cysteine-rich protein 2PRO_0000349191Add
BLAST

Proteomic databases

PaxDbiA6NFK2.
PRIDEiA6NFK2.

PTM databases

iPTMnetiA6NFK2.
PhosphoSiteiA6NFK2.

Expressioni

Gene expression databases

BgeeiA6NFK2.

Organism-specific databases

HPAiHPA059421.

Structurei

3D structure databases

ProteinModelPortaliA6NFK2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GRXCR1 family.Curated

Phylogenomic databases

eggNOGiENOG410IU0M. Eukaryota.
ENOG4111RK7. LUCA.
GeneTreeiENSGT00530000063827.
HOGENOMiHOG000112811.
InParanoidiA6NFK2.
OMAiNDHKPPP.
OrthoDBiEOG7HTHJ4.
PhylomeDBiA6NFK2.
TreeFamiTF315372.

Family and domain databases

InterProiIPR033023. GRXCR2.
IPR001305. HSP_DnaJ_Cys-rich_dom.
[Graphical view]
PANTHERiPTHR10168:SF66. PTHR10168:SF66. 1 hit.
SUPFAMiSSF57938. SSF57938. 1 hit.

Sequencei

Sequence statusi: Complete.

A6NFK2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEDPEKKLNQ KSDGKPRKVR FKISSSYSGR VLKQVFEDGQ ELESPKEEYP
60 70 80 90 100
HSFLQESLET MDGVYGSGEV PRPQMCSPKL TAQRISVFRE GNAYTLAGGQ
110 120 130 140 150
PRFNDYKAND HKPLPIIDFG KIIIYTNNLK IIRTPMDKRD FVRKILQKEE
160 170 180 190 200
EAEEESLMNK EESYGGRDQH DRPLVEAEST LPQNRYTQEG DIPEDSCFHC
210 220 230 240
RGSGSATCSL CHGSKFSMLA NRFKESYRAL RCPACNENGL QPCQICNQ
Length:248
Mass (Da):28,284
Last modified:July 24, 2007 - v1
Checksum:iA1B6A7DD91ED2123
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti181 – 1811L → F.
Corresponds to variant rs2569006 [ dbSNP | Ensembl ].
VAR_060192

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011359 Genomic DNA. No translation available.
CCDSiCCDS34263.1.
RefSeqiNP_001073985.1. NM_001080516.1.
XP_011535976.1. XM_011537674.1.
UniGeneiHs.570895.

Genome annotation databases

EnsembliENST00000377976; ENSP00000367214; ENSG00000204928.
GeneIDi643226.
KEGGihsa:643226.
UCSCiuc003lns.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC011359 Genomic DNA. No translation available.
CCDSiCCDS34263.1.
RefSeqiNP_001073985.1. NM_001080516.1.
XP_011535976.1. XM_011537674.1.
UniGeneiHs.570895.

3D structure databases

ProteinModelPortaliA6NFK2.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiA6NFK2.
PhosphoSiteiA6NFK2.

Polymorphism and mutation databases

BioMutaiGRXCR2.

Proteomic databases

PaxDbiA6NFK2.
PRIDEiA6NFK2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377976; ENSP00000367214; ENSG00000204928.
GeneIDi643226.
KEGGihsa:643226.
UCSCiuc003lns.1. human.

Organism-specific databases

CTDi643226.
GeneCardsiGRXCR2.
HGNCiHGNC:33862. GRXCR2.
HPAiHPA059421.
MalaCardsiGRXCR2.
MIMi615762. gene.
615837. phenotype.
neXtProtiNX_A6NFK2.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA164720311.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU0M. Eukaryota.
ENOG4111RK7. LUCA.
GeneTreeiENSGT00530000063827.
HOGENOMiHOG000112811.
InParanoidiA6NFK2.
OMAiNDHKPPP.
OrthoDBiEOG7HTHJ4.
PhylomeDBiA6NFK2.
TreeFamiTF315372.

Miscellaneous databases

GenomeRNAii643226.
PROiA6NFK2.
SOURCEiSearch...

Gene expression databases

BgeeiA6NFK2.

Family and domain databases

InterProiIPR033023. GRXCR2.
IPR001305. HSP_DnaJ_Cys-rich_dom.
[Graphical view]
PANTHERiPTHR10168:SF66. PTHR10168:SF66. 1 hit.
SUPFAMiSSF57938. SSF57938. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "A frameshift mutation in GRXCR2 causes recessively inherited hearing loss."
    Imtiaz A., Kohrman D.C., Naz S.
    Hum. Mutat. 35:618-624(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DFNB101, FUNCTION.

Entry informationi

Entry nameiGRCR2_HUMAN
AccessioniPrimary (citable) accession number: A6NFK2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: July 24, 2007
Last modified: June 8, 2016
This is version 58 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Although it shares high sequence similarity with GRXCR1, it does not contain a canonical glutaredoxin domain.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.