GLRX5 (glutaredoxin 5)

2014-11-01  

Identity

HGNC
GLRX5
LOCATION
14q32.13
LOCUSID
51218
ALIAS
C14orf87,FLB4739,GRX5,PR01238,PRO1238,PRSA,SIDBA3,SPAHGC

Other Information

Locus ID:

NCBI: 51218
MIM: 609588
HGNC: 20134
Ensembl: ENSG00000182512

Variants:

dbSNP: 51218
ClinVar: 51218
TCGA: ENSG00000182512
COSMIC: GLRX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182512ENST00000331334Q86SX6
ENSG00000182512ENST00000331334A0A384MDT9
ENSG00000182512ENST00000557731H0YJM6

Expression (GTEx)

0
10
20
30
40
50
60
70
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
174855482007The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.107
203640842010Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
243342902014Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.50
210290462011The crystal structure of human GLRX5: iron-sulfur cluster co-ordination, tetrameric assembly and monomer activity.49
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.41
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
278935902017Association study of the GLRX5 rs1007814 polymorphism with schizophrenia in the Han Chinese population.0

Citation

Dessen P

GLRX5 (glutaredoxin 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63829/glrx5