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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, Cysteine Rich 2 2 3
  • GRXCR1-Like Protein 3 4
  • Glutaredoxin Domain-Containing Cysteine-Rich Protein 2 3
  • DFNB101 3

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. 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 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 , fRNAdb sequence ontologies and piRNA Summary for GRXCR2 Gene

Genomics for GRXCR2 Gene

Regulatory Elements for GRXCR2 Gene

Enhancers for GRXCR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G145851 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 +82.8 82780 5.2 HDGF PKNOX1 FOXA2 ARNT ZNF766 FOS KLF13 JUNB REST ZNF592 GRXCR2 SH3RF2 PRELID2 GC05P145887
GH05G145974 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10 -42.1 -42069 9.2 HNRNPUL1 PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 ZNF2 YY1 ZNF143 RBM27 TCERG1 SH3RF2 GRXCR2 GC05P145976 LOC100431175
GH05G145833 1.3 ENCODE dbSUPER 11.3 +101.9 101870 3.8 HDGF HNRNPUL1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 GRXCR2 PRELID2 GC05M145704
GH05G145682 1.3 Ensembl ENCODE 10.4 +255.4 255422 0.3 ATF1 FOXA2 MLX ARNT ARID4B FEZF1 ZNF2 ZNF143 DEK REST GRXCR2 GC05P145691 PIR44965
GH05G145847 0.7 ENCODE 11.3 +88.9 88874 1.8 RNF2 DPF2 FOSL1 ARID1B NFIC JUND ATF3 GATA2 HMBOX1 FOS GRXCR2 SH3RF2 ASS1P10 PRELID2 GC05P145887
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRXCR2 on UCSC Golden Path with GeneCards custom track

Promoters for GRXCR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000188442 476 1001 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 YY1 GLIS2 FOS

Genomic Location for GRXCR2 Gene

Chromosome:
5
Start:
145,858,387 bp from pter
End:
145,937,176 bp from pter
Size:
78,790 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

Protein Domains for GRXCR2 Gene

Suggested Antigen Peptide Sequences for GRXCR2 Gene

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.

Gene Ontology (GO) - Molecular Function for GRXCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031072 heat shock protein binding IEA --
GO:0051082 unfolded protein binding IEA --
genes like me logo Genes that share ontologies with GRXCR2: view

Phenotypes 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

No data available for Enzyme Numbers (IUBMB) , 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 3
extracellular 1
cytosol 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 --
genes like me logo Genes that share ontologies with GRXCR2: view

Pathways & Interactions for GRXCR2 Gene

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 IMP,IEA 24619944
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

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRXCR2 Gene

Glutaredoxin, cysteine rich 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for GRXCR2 Gene

GeneLoc Exon Structure for
GRXCR2
ECgene alternative splicing isoforms for
GRXCR2

Expression for GRXCR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of GRXCR2 Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia GRXCR2 34 35
  • 90.05 (n)
cow
(Bos Taurus)
Mammalia GRXCR2 34 35
  • 89.7 (n)
rat
(Rattus norvegicus)
Mammalia Grxcr2 34
  • 82.59 (n)
mouse
(Mus musculus)
Mammalia Grxcr2 34 16 35
  • 81.98 (n)
oppossum
(Monodelphis domestica)
Mammalia GRXCR2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRXCR2 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRXCR2 34 35
  • 59.36 (n)
lizard
(Anolis carolinensis)
Reptilia GRXCR2 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grxcr2 34
  • 60.77 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100535155 34
  • 59.1 (n)
GRXCR2 35
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31559 35
  • 10 (a)
ManyToMany
CG12206 35
  • 9 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y46E12A.3 35
  • 16 (a)
OneToMany
Species where no ortholog for GRXCR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for GRXCR2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587777424 Pathogenic 145,859,766(+) GGCCA(-/A)TTCTC reference, frameshift-variant
rs559768717 Uncertain significance 145,866,496(+) CCCAA(C/T)GCACC intron-variant
rs1000021931 -- 145,929,341(+) AAATT(C/T)ATAGA intron-variant
rs1000023388 -- 145,883,036(+) GGGAG(G/T)GGGGA intron-variant
rs1000072265 -- 145,922,381(+) GTCTT(C/T)CCTCA intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 101
  • autosomal recessive nonsyndromic deafness 101
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- 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.

Relevant External Links for GRXCR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRXCR2
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. (Hum. Mutat. 2014) 2 3 4 64
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4 64

Products for GRXCR2 Gene

Sources for GRXCR2 Gene

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