Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

8 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

6 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

31 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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (17)
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	28081215	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ 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	20137778	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ 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
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ 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	28081215	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GIPC3	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CEACAM16	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ESRRB	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CLRN2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
GRXCR2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

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