GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

2014-11-01  

Identity

HGNC
GRXCR1
LOCATION
4p13
LOCUSID
389207
ALIAS
DFNB25,PPP1R88
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 389207
MIM: 613283
HGNC: 31673
Ensembl: ENSG00000215203

Variants:

dbSNP: 389207
ClinVar: 389207
TCGA: ENSG00000215203
COSMIC: GRXCR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215203ENST00000399770A8MXD5

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
258022472015Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.6
258022472015Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.6
201377782010Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.33
201377782010Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.33

Citation

Dessen P

GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64063/case-report-explorer/js/humanGenome