Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1727
MIM: 613213
HGNC: 2873
Ensembl: ENSG00000100243
Variants:
dbSNP: 1727
ClinVar: 1727
TCGA: ENSG00000100243
COSMIC: CYB5R3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10176 | rasburicase | Chemical | LabelAnnotation | associated | |||
| PA164748741 | mepivacaine | Chemical | LabelAnnotation | associated | |||
| PA166115361 | sodium nitrite | Chemical | LabelAnnotation | associated | |||
| PA166176018 | lidocaine / prilocaine | Chemical | LabelAnnotation | associated | |||
| PA166182735 | lidocaine and tetracaine | Chemical | LabelAnnotation | associated | |||
| PA166182783 | articaine / epinephrine | Chemical | LabelAnnotation | associated | |||
| PA166182885 | oxymetazoline and tetracaine | Chemical | LabelAnnotation | associated | |||
| PA27068 | CYB5A | Gene | Pathway | associated | 23913015 | ||
| PA444684 | Kidney Failure, Chronic | Disease | VariantAnnotation | associated | PD | 11418378 | |
| PA444942 | Methemoglobinemia | Disease | VariantAnnotation | associated | PD | 11418378 | |
| PA448866 | ceftriaxone | Chemical | LabelAnnotation | associated | |||
| PA448946 | chloroprocaine | Chemical | LabelAnnotation | associated | |||
| PA449211 | dapsone | Chemical | LabelAnnotation | associated | |||
| PA450125 | isosorbide dinitrate | Chemical | LabelAnnotation | associated | |||
| PA450126 | isosorbide mononitrate | Chemical | LabelAnnotation | associated | |||
| PA450457 | methylene blue | Chemical | LabelAnnotation | associated | |||
| PA450475 | metoclopramide | Chemical | LabelAnnotation, VariantAnnotation | associated | PD | 11418378 | |
| PA451103 | primaquine | Chemical | LabelAnnotation, MultilinkAnnotation | associated | 25058800 | ||
| PA451271 | ropivacaine | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38353123 | 2024 | CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults. | 0 |
| 38353123 | 2024 | CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults. | 0 |
| 35064402 | 2022 | Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia. | 2 |
| 35064402 | 2022 | Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia. | 2 |
| 31898843 | 2020 | Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. | 9 |
| 32697331 | 2020 | The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease. | 8 |
| 31898843 | 2020 | Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. | 9 |
| 32697331 | 2020 | The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease. | 8 |
| 29482478 | 2018 | Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. | 8 |
| 29482478 | 2018 | Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. | 8 |
| 28671819 | 2017 | Efficient Reduction of Vertebrate Cytoglobins by the Cytochrome b(5)/Cytochrome b(5) Reductase/NADH System. | 26 |
| 28671819 | 2017 | Efficient Reduction of Vertebrate Cytoglobins by the Cytochrome b(5)/Cytochrome b(5) Reductase/NADH System. | 26 |
| 24266649 | 2015 | Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. | 10 |
| 25521918 | 2015 | Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy. | 2 |
| 26351264 | 2015 | NADH-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/
