U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 643226, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    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; AllianceGenome:HGNC:33862
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    5q32
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (145857670..145931673, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146391992..146466058, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145238084..145252577, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PRELI domain containing 2 Neighboring gene uncharacterized LOC105378211 Neighboring gene NANOG hESC enhancer GRCh37_chr5:144851246-144851794 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:144858933-144859433 Neighboring gene MPRA-validated peak5512 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:144966712-144967911 Neighboring gene MPRA-validated peak5513 silencer Neighboring gene TRPC6 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16487 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3602 Neighboring gene uncharacterized LOC107986458 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145315879-145316456 Neighboring gene MPRA-validated peak5514 silencer Neighboring gene Sharpr-MPRA regulatory region 2549 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80964 Neighboring gene apolipoprotein O like pseudogene Neighboring gene SH3 domain containing ring finger 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80983 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:145405605-145406400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:145406401-145407194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:145407216-145408415 Neighboring gene uncharacterized LOC107986459

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. Wonkam A, et al. Mol Genet Genomic Med, 2021 Mar. PMID 33528103, Free PMC Article
    2. Grxcr2 is required for stereocilia morphogenesis in the cochlea. Avenarius MR, et al. PLoS One, 2018. PMID 30157177, Free PMC Article
    3. A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. Imtiaz A, et al. Hum Mutat, 2014 May. PMID 24619944, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 101
    MedGen: C3892049 OMIM: 615837 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to organelle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in microvillus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microvillus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in stereocilium base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in stereocilium shaft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_034161.2 RefSeqGene

      Range
      5001..19494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080516.2 → NP_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, ENST00000377976.3
      Conserved Domains (1) summary
      cl00388
      Location:197 → 243
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      145857670..145931673 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      cl00388
      Location:101 → 147
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      146391992..146466058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353096.1 → XP_054209071.1  glutaredoxin domain-containing cysteine-rich protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFK2.1 GenPept UniProtKB/Swiss-Prot:A6NFK2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous