GRXCR2 (glutaredoxin and cysteine rich domain containing 2)

2014-11-01  

Identity

HGNC
GRXCR2
LOCATION
5q32
LOCUSID
643226
ALIAS
DFNB101

Other Information

Locus ID:

NCBI: 643226
MIM: 615762
HGNC: 33862
Ensembl: ENSG00000204928

Variants:

dbSNP: 643226
ClinVar: 643226
TCGA: ENSG00000204928
COSMIC: GRXCR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204928ENST00000377976A6NFK2
ENSG00000204928ENST00000639411A0A1W2PQQ7

Expression (GTEx)

0
1
2
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
246199442014A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.0
301571772018Grxcr2 is required for stereocilia morphogenesis in the cochlea.0

Citation

Dessen P

GRXCR2 (glutaredoxin and cysteine rich domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64064/grxcr2