GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
389207
Gene name Gene Name - the full gene name approved by the HGNC.
Glutaredoxin and cysteine rich domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRXCR1
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB25, PPP1R88
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin org
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs201824235 A>T Pathogenic Intron variant
rs267606855 C>T Pathogenic Coding sequence variant, stop gained
rs267606856 C>T Pathogenic Coding sequence variant, missense variant
rs606231120 C>A,G,T Pathogenic Intron variant
rs761349153 C>G,T Likely-pathogenic Coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT1035660 hsa-miR-1343 CLIP-seq
MIRT1035661 hsa-miR-3074-5p CLIP-seq
MIRT1035662 hsa-miR-3132 CLIP-seq
MIRT1035663 hsa-miR-3163 CLIP-seq
MIRT1035664 hsa-miR-3662 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005902 Component Microvillus IEA
GO:0005929 Component Cilium IEA
GO:0006887 Process Exocytosis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613283 31673 ENSG00000215203
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID A8MXD5
Protein name Glutaredoxin domain-containing cysteine-rich protein 1
Protein function May play a role in actin filament architecture in developing stereocilia of sensory cells.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00462 Glutaredoxin 139 → 208 Glutaredoxin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea. {ECO:0000269|PubMed:20137778}.
Sequence 
MLKREMKPESDRPRKVRFRIASSHSGRVLKEVYEDGQPSGSLDSECASICGIDGLGDSDG
QQNGHIESEGDENENDQDSLLVLARAASEKGFGTRRVNILSKNGTVRGVKYKVSAGQALF
NNLTKVLQQPSTDLEFDRVVIYTTCLRVVRTTFERCELVRKIFQNHRVKFEEKNIALNGE
YGKELDERCRRVSEAPSLPVVFIDGHYLGGAEKILSMNESGELQDILTKIERVQHPHECP
SCGGFGFLPCSVCHGSKMSMFRNCFTDSFKALKCTACNENGLQRCKNCAG
Sequence length 290
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 25 rs606231120, rs267606855, rs771844359, rs769983282 N/A
Hearing Loss Hearing loss, autosomal recessive rs267606855, rs1560690591 N/A
deafness Deafness rs1560690591 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
hearing impairment Hearing impairment N/A N/A ClinVar
Metabolic Syndrome Serum bilirubin levels x Mediterranean diet adherence interaction in metabolic syndrome N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 32641180
Deafness Associate 32641180
Hearing Loss Associate 20137778
Nonsyndromic Deafness Associate 31389194
Nonsyndromic sensorineural hearing loss Associate 20137778
Otitis Media Associate 33693626
Pulmonary Disease Chronic Obstructive Associate 34523824
Tourette Syndrome Associate 32641180
Vestibular Diseases Associate 20137778
Weight Loss Associate 34523824