CYB5R2 (cytochrome b5 reductase 2)

2003-12-01  

Identity

HGNC
CYB5R2
LOCATION
11p15.4
LOCUSID
51700
ALIAS
B5R.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51700
MIM: 608342
HGNC: 24376
Ensembl: ENSG00000166394

Variants:

dbSNP: 51700
ClinVar: 51700
TCGA: ENSG00000166394
COSMIC: CYB5R2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166394ENST00000299498Q6BCY4
ENSG00000166394ENST00000436351E9PRM4
ENSG00000166394ENST00000524608E9PQW2
ENSG00000166394ENST00000524790Q6BCY4
ENSG00000166394ENST00000527542E9PIV9
ENSG00000166394ENST00000531096E9PMI2
ENSG00000166394ENST00000533558Q6BCY4

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044

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
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10176rasburicaseChemicalLabelAnnotationassociated
PA450125isosorbide dinitrateChemicalLabelAnnotationassociated
PA450126isosorbide mononitrateChemicalLabelAnnotationassociated
PA450475metoclopramideChemicalLabelAnnotationassociated
PA451103primaquineChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
263239912015Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma.14
243386902014Cytochrome b5 reductase 2 is a novel candidate tumor suppressor gene frequently inactivated by promoter hypermethylation in human nasopharyngeal carcinoma.8
158582182005Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa.4

Citation

Dessen P

CYB5R2 (cytochrome b5 reductase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40230/cyb5r2