CYB5R3 (cytochrome b5 reductase 3)

2014-08-01  

Identity

HGNC
CYB5R3
LOCATION
22q13.2
LOCUSID
1727
ALIAS
B5R,DIA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1727
MIM: 613213
HGNC: 2873
Ensembl: ENSG00000100243

Variants:

dbSNP: 1727
ClinVar: 1727
TCGA: ENSG00000100243
COSMIC: CYB5R3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100243ENST00000352397P00387
ENSG00000100243ENST00000361740P00387
ENSG00000100243ENST00000402438P00387
ENSG00000100243ENST00000407332P00387
ENSG00000100243ENST00000407623P00387
ENSG00000100243ENST00000438270B1AHF3

Expression (GTEx)

0
100
200
300
400
500
600
700
800
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin C (ascorbate) metabolismREACTOMER-HSA-196836
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Neutrophil degranulationREACTOMER-HSA-6798695

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
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
PA164748741mepivacaineChemicalLabelAnnotationassociated
PA166115361sodium nitriteChemicalLabelAnnotationassociated
PA166176018lidocaine / prilocaineChemicalLabelAnnotationassociated
PA166182735lidocaine and tetracaineChemicalLabelAnnotationassociated
PA166182783articaine / epinephrineChemicalLabelAnnotationassociated
PA166182885oxymetazoline and tetracaineChemicalLabelAnnotationassociated
PA27068CYB5AGenePathwayassociated23913015
PA444684Kidney Failure, ChronicDiseaseVariantAnnotationassociatedPD11418378
PA444942MethemoglobinemiaDiseaseVariantAnnotationassociatedPD11418378
PA448866ceftriaxoneChemicalLabelAnnotationassociated
PA448946chloroprocaineChemicalLabelAnnotationassociated
PA449211dapsoneChemicalLabelAnnotationassociated
PA450125isosorbide dinitrateChemicalLabelAnnotationassociated
PA450126isosorbide mononitrateChemicalLabelAnnotationassociated
PA450457methylene blueChemicalLabelAnnotationassociated
PA450475metoclopramideChemicalLabelAnnotation, VariantAnnotationassociatedPD11418378
PA451103primaquineChemicalLabelAnnotation, MultilinkAnnotationassociated25058800
PA451271ropivacaineChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
383531232024CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults.0
383531232024CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults.0
350644022022Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.2
350644022022Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.2
318988432020Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.9
326973312020The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.8
318988432020Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.9
326973312020The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.8
294824782018Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.8
294824782018Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.8
286718192017Efficient Reduction of Vertebrate Cytoglobins by the Cytochrome b(5)/Cytochrome b(5) Reductase/NADH System.26
286718192017Efficient Reduction of Vertebrate Cytoglobins by the Cytochrome b(5)/Cytochrome b(5) Reductase/NADH System.26
242666492015Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.10
255219182015Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy.2
263512642015NADH-Cytochrome b5 Reductase 3 Promotes Colonization and Metastasis Formation and Is a Prognostic Marker of Disease-Free and Overall Survival in Estrogen Receptor-Negative Breast Cancer.17

Citation

Dessen P

CYB5R3 (cytochrome b5 reductase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54246/css/lib/hgnc