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] See more...

Aliases for GRXCR2 Gene

Aliases for GRXCR2 Gene

  • Glutaredoxin And Cysteine Rich Domain Containing 2 2 3 5
  • Glutaredoxin Domain-Containing Cysteine-Rich Protein 1-Like Protein 3 4
  • Glutaredoxin Domain-Containing Cysteine-Rich Protein 2 3 4
  • Glutaredoxin, Cysteine Rich 2 2 3
  • GRXCR1-Like Protein 3 4
  • DFNB101 2 3
  • GRXCR2 5

External Ids for GRXCR2 Gene

Previous GeneCards Identifiers for GRXCR2 Gene

  • GC05M145220
  • GC05M140386

Summaries for GRXCR2 Gene

Entrez Gene Summary for GRXCR2 Gene

  • 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]

GeneCards Summary for GRXCR2 Gene

GRXCR2 (Glutaredoxin And Cysteine Rich Domain Containing 2) is a Protein Coding gene. Diseases associated with GRXCR2 include Deafness, Autosomal Recessive 101 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and heat shock protein binding. An important paralog of this gene is GRXCR1.

UniProtKB/Swiss-Prot Summary for GRXCR2 Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRXCR2 Gene

Genomics for GRXCR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRXCR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J145833 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 +101.8 101820 3.8 SP1 HNRNPL IKZF1 KDM1A CTCF ZNF692 RCOR2 TARDBP JUND FOXA1 PRELID2 lnc-PRELID2-5 GRXCR2 LARS1 TCERG1 lnc-PRELID2-1
GH05J145851 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +82.7 82731 5.2 HNRNPL PRDM10 RFX1 LEF1 IKZF1 JUND MTA2 PHF21A ZIC2 PKNOX1 GRXCR2 SH3RF2 PRELID2 piR-56037-015 lnc-PRELID2-5
GH05J145974 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10 -43.1 -43075 11.2 ZNF221 GATAD2A CTCF PRDM10 ZNF629 TFE3 SOX13 NFKBIZ ZNF692 RCOR2 TCERG1 RBM27 SH3RF2 LARS1 GRXCR2 piR-32023-200 piR-31210-036 LOC107986458 PLAC8L1
GH05J145682 Enhancer 1.1 Ensembl ENCODE 10.4 +255.2 255225 1 CEBPG GATAD2A CTCF ATF7 ZNF512 LEF1 NFKBIZ JUND FOXA1 PRDM1 GRXCR2 lnc-SH3RF2-6 piR-50966 lnc-PRELID2-1 PRELID2
GH05J145847 Enhancer 0.8 Ensembl ENCODE 11.3 +88.7 88725 2.4 JUND PHF21A HMBOX1 ZNF580 FOS FOSL1 EHMT2 NFIC ZNF384 ZFP91 GRXCR2 SH3RF2 ASS1P10 piR-56037-015 PRELID2 lnc-PRELID2-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRXCR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRXCR2

Top Transcription factor binding sites by QIAGEN in the GRXCR2 gene promoter:
  • En-1
  • FOXI1
  • FOXO1
  • FOXO1a
  • GATA-6
  • HFH-3
  • HSF1 (long)
  • HSF1short
  • Nkx5-1
  • Pax-4a

Genomic Locations for GRXCR2 Gene

Genomic Locations for GRXCR2 Gene
chr5:145,858,521-145,937,126
(GRCh38/hg38)
Size:
78,606 bases
Orientation:
Minus strand
chr5:145,239,296-145,252,531
(GRCh37/hg19)
Size:
13,236 bases
Orientation:
Minus strand

Genomic View for GRXCR2 Gene

Genes around GRXCR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRXCR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRXCR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRXCR2 Gene

Proteins for GRXCR2 Gene

  • Protein details for GRXCR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NFK2-GRCR2_HUMAN
    Recommended name:
    Glutaredoxin domain-containing cysteine-rich protein 2
    Protein Accession:
    A6NFK2

    Protein attributes for GRXCR2 Gene

    Size:
    248 amino acids
    Molecular mass:
    28284 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GRXCR2 Gene

Post-translational modifications for GRXCR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRXCR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GRXCR2 Gene

Domains & Families for GRXCR2 Gene

Gene Families for GRXCR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GRXCR2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRXCR2 Gene

GenScript: Design optimal peptide antigens:
  • Glutaredoxin domain-containing cysteine-rich protein 1-like protein (GRCR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NFK2

UniProtKB/Swiss-Prot:

GRCR2_HUMAN :
  • Belongs to the GRXCR1 family.
Family:
  • Belongs to the GRXCR1 family.
genes like me logo Genes that share domains with GRXCR2: view

Function for GRXCR2 Gene

Molecular function for GRXCR2 Gene

UniProtKB/Swiss-Prot Function:
Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection.

Phenotypes From GWAS Catalog for GRXCR2 Gene

genes like me logo Genes that share phenotypes with GRXCR2: view

Human Phenotype Ontology for GRXCR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRXCR2 Gene

MGI Knock Outs for GRXCR2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRXCR2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for GRXCR2 Gene

Localization for GRXCR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRXCR2 Gene

Cell projection, stereocilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRXCR2 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GRXCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005902 microvillus IMP 24619944
GO:0032420 stereocilium IEA --
GO:0042995 cell projection IEA --
GO:0120043 stereocilium shaft IEA,IBA 21873635
GO:0120044 stereocilium base IEA,IBA 21873635
genes like me logo Genes that share ontologies with GRXCR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRXCR2 Gene

Pathways & Interactions for GRXCR2 Gene

PathCards logo

SuperPathways for GRXCR2 Gene

No Data Available

Interacting Proteins for GRXCR2 Gene

Gene Ontology (GO) - Biological Process for GRXCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA,IMP 24619944
GO:0033365 protein localization to organelle IEA --
GO:0060088 auditory receptor cell stereocilium organization IEA --
GO:0060122 inner ear receptor cell stereocilium organization IEA --
genes like me logo Genes that share ontologies with GRXCR2: view

No data available for Pathways by source and SIGNOR curated interactions for GRXCR2 Gene

Drugs & Compounds for GRXCR2 Gene

No Compound Related Data Available

Transcripts for GRXCR2 Gene

mRNA/cDNA for GRXCR2 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRXCR2

Alternative Splicing Database (ASD) splice patterns (SP) for GRXCR2 Gene

No ASD Table

Relevant External Links for GRXCR2 Gene

GeneLoc Exon Structure for
GRXCR2

Expression for GRXCR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRXCR2 Gene

mRNA differential expression in normal tissues according to GTEx for GRXCR2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x21.7), Testis (x14.9), and Heart - Left Ventricle (x7.7).

Protein differential expression in normal tissues from HIPED for GRXCR2 Gene

This gene is overexpressed in Plasma (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRXCR2 Gene



Protein tissue co-expression partners for GRXCR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRXCR2

SOURCE GeneReport for Unigene cluster for GRXCR2 Gene:

Hs.570895

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRXCR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GRXCR2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for GRXCR2 Gene

Orthologs for GRXCR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRXCR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GRXCR2 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GRXCR2 30 31
  • 90.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GRXCR2 30 31
  • 89.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Grxcr2 30
  • 82.59 (n)
Mouse
(Mus musculus)
Mammalia Grxcr2 30 17 31
  • 81.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GRXCR2 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GRXCR2 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GRXCR2 30 31
  • 59.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRXCR2 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia grxcr2 30
  • 60.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100535155 30
  • 59.1 (n)
GRXCR2 31
  • 41 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG31559 31
  • 10 (a)
ManyToMany
CG12206 31
  • 9 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea Y46E12A.3 31
  • 16 (a)
OneToMany
Species where no ortholog for GRXCR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GRXCR2 Gene

ENSEMBL:
Gene Tree for GRXCR2 (if available)
TreeFam:
Gene Tree for GRXCR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRXCR2: view image

Paralogs for GRXCR2 Gene

Paralogs for GRXCR2 Gene

genes like me logo Genes that share paralogs with GRXCR2: view

Variants for GRXCR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRXCR2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
717851 Benign: not provided 145,866,555(-) G/A SYNONYMOUS_VARIANT
717852 Benign: not provided 145,872,787(-) A/C MISSENSE_VARIANT
721108 Benign: not provided 145,859,901(-) G/A SYNONYMOUS_VARIANT
804888 Benign: not provided 145,872,814(-) C/T MISSENSE_VARIANT
804889 Benign: not provided 145,872,676(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GRXCR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRXCR2 Gene

Variant ID Type Subtype PubMed ID
esv3570480 CNV loss 25503493

Variation tolerance for GRXCR2 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRXCR2 Gene

Human Gene Mutation Database (HGMD)
GRXCR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRXCR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRXCR2 Gene

Disorders for GRXCR2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRXCR2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 101
  • dfnb101
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal dominant 54
  • dfna54
deafness, autosomal recessive 39
  • dfnb39
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GRCR2_HUMAN
  • 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 mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with GRXCR2: view

No data available for Genatlas for GRXCR2 Gene

Publications for GRXCR2 Gene

  1. A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. (PMID: 24619944) Imtiaz A … Naz S (Human mutation 2014) 2 3 4
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4
  3. Grxcr2 is required for stereocilia morphogenesis in the cochlea. (PMID: 30157177) Avenarius MR … Kohrman DC (PloS one 2018) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for GRXCR2 Gene

Sources for GRXCR2 Gene