CYB5R4 (cytochrome b5 reductase 4)

2014-11-01  

Identity

HGNC
CYB5R4
LOCATION
6q14.2
LOCUSID
51167
ALIAS
NCB5OR,cb5/cb5R,dJ676J13.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51167
MIM: 608343
HGNC: 20147
Ensembl: ENSG00000065615

Variants:

dbSNP: 51167
ClinVar: 51167
TCGA: ENSG00000065615
COSMIC: CYB5R4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065615ENST00000369679A0A0A0MRM6
ENSG00000065615ENST00000369681Q7L1T6

Expression (GTEx)

0
5
10
15
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
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10176rasburicaseChemicalLabelAnnotationassociated
PA450125isosorbide dinitrateChemicalLabelAnnotationassociated
PA450126isosorbide mononitrateChemicalLabelAnnotationassociated
PA450475metoclopramideChemicalLabelAnnotationassociated
PA451103primaquineChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151311102004NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
235239302013Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase.5
155049812004Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus.4
155049812004Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus.4
206308632010Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain.4
226275752012Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.4
268782592016Cytosolic localization of NADH cytochrome b₅ oxidoreductase (Ncb5or).0

Citation

Dessen P

CYB5R4 (cytochrome b5 reductase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62237/cyb5r4