Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	389207
Gene name	Glutaredoxin and cysteine rich domain containing 1
Gene symbol	GRXCR1
Synonyms (NCBI Gene)	DFNB25PPP1R88
Chromosome	4
Chromosome location	4p13
Summary	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

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
rs771844359	A>G	Pathogenic	Splice acceptor variant
rs1553941938	->CCCT	Pathogenic	Coding sequence variant, frameshift variant
rs1560690591	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments
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
MIRT1035665	hsa-miR-4650-3p	CLIP-seq

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
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0032420	Component	Stereocilium	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060091	Component	Kinocilium	IBA
GO:0060091	Component	Kinocilium	IEA
GO:0060091	Component	Kinocilium	ISS
GO:0060118	Process	Vestibular receptor cell development	IEA
GO:0060118	Process	Vestibular receptor cell development	ISS
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060119	Process	Inner ear receptor cell development	ISS
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IBA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0090102	Process	Cochlea development	IEA
GO:1905144	Process	Response to acetylcholine	IEA

MIM	HGNC	e!Ensembl
613283	31673	ENSG00000215203

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 25	Likely pathogenic; Pathogenic	rs606231120, rs267606855, rs2109775078, rs770874273, rs1171186208, rs771844359, rs769983282, rs774844858	RCV000000216 RCV000000218 RCV002273197 RCV003152656 RCV003155558 RCV000625566 RCV002497498 RCV001269174 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1560690591	RCV000679818	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRXCR1-related disorder	Likely pathogenic; Pathogenic	rs774844858	RCV003416141	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs267606855, rs1560690591	RCV001291336 RCV001291337	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic	rs761349153	RCV006261748	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs1553941938, rs761349153	RCV000603853 RCV000615962	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 25	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	32641180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	32641180	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEAFNESS, AUTOSOMAL RECESSIVE 25	Deafness	UNIPROT_DG	20137774, 20137778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 25	Deafness	GENOMICS_ENGLAND_DG	20137778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 25	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 25	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	20137778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	15347914, 20137774, 20137778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	20137774, 20137778, 25802247, 26226137, 26445815, 26969326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34523824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30380418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	32641180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	20137778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GRXCR1 (glutaredoxin and cysteine rich domain containing 1)