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

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; 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
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Genomic context

Location:: 5q32

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (145857670..145931673, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (146391992..146466058, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (145238084..145252577, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.
Title: Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.
GRXCR2 plays an intrinsic role in bundle orientation, organization, and sensory function in the inner ear during development and at maturity
Title: Grxcr2 is required for stereocilia morphogenesis in the cochlea.
ur results indicate that GRXCR2 should be considered in differential genetic diagnosis for individuals with early onset, moderate-to-severe and progressive hearing loss.
Title: A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.

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Phenotypes

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

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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

NG_034161.2 RefSeqGene

Range

5001..19494

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

145857670..145931673 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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