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GRXCR2 glutaredoxin and cysteine rich domain containing 2 [ Homo sapiens (human) ]

Gene ID: 643226, updated on 13-Feb-2019

Summary

Official Symbol
GRXCR2provided by HGNC
Official Full Name
glutaredoxin and cysteine rich domain containing 2provided by HGNC
Primary source
HGNC:HGNC:33862
See related
Ensembl:ENSG00000204928 MIM:615762
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB101
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GRXCR2 in Genome Data Viewer
Location:
5q32
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (145858538..145931673, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145239204..145299816, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378211 Neighboring gene PRELI domain containing 2 Neighboring gene transient receptor potential cation channel subfamily C member 6 pseudogene Neighboring gene uncharacterized LOC107986458 Neighboring gene SH3 domain containing ring finger 2 Neighboring gene apolipoprotein O like pseudogene Neighboring gene uncharacterized LOC107986459

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
microvillus IMP
Inferred from Mutant Phenotype
more info
PubMed 
stereocilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glutaredoxin domain-containing cysteine-rich protein 2
Names
GRXCR1-like protein
glutaredoxin domain-containing cysteine-rich protein 1-like protein
glutaredoxin, cysteine rich 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034161.1 RefSeqGene

    Range
    5001..18236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080516.1NP_001073985.1  glutaredoxin domain-containing cysteine-rich protein 2

    See identical proteins and their annotated locations for NP_001073985.1

    Status: REVIEWED

    Source sequence(s)
    AC011359
    Consensus CDS
    CCDS34263.1
    UniProtKB/Swiss-Prot
    A6NFK2
    Related
    ENSP00000367214.1, ENST00000377976.2
    Conserved Domains (1) summary
    cl00388
    Location:197243
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    145858538..145931673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009708.1XP_016865197.1  glutaredoxin domain-containing cysteine-rich protein 2 isoform X1

    Conserved Domains (1) summary
    cl00388
    Location:101147
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
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