Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1727
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome b5 reductase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYB5R3
Synonyms (NCBI Gene) Gene synonyms aliases
B5R, DIA1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cy
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61732609 G>A Pathogenic Stop gained, coding sequence variant
rs121965006 A>G Pathogenic Coding sequence variant, missense variant
rs121965007 C>G,T Pathogenic Coding sequence variant, missense variant
rs121965008 A>G Pathogenic Coding sequence variant, missense variant
rs121965009 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027454 hsa-miR-98-5p Microarray 19088304
MIRT049610 hsa-miR-92a-3p CLASH 23622248
MIRT043904 hsa-miR-378a-3p CLASH 23622248
MIRT042354 hsa-miR-484 CLASH 23622248
MIRT037551 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H IBA
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H IDA 1400360, 9639531, 36543799
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H IEA
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H IMP 1898726, 2019583, 8119939, 10807796, 15953014
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H TAS 1400360
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613213 2873 ENSG00000100243
Protein
UniProt ID P00387
Protein name NADH-cytochrome b5 reductase 3 (B5R) (Cytochrome b5 reductase) (EC 1.6.2.2) (Diaphorase-1)
Protein function Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor. {ECO:0000269|PubMed:10807796, ECO:0000269|PubMed:1400360, ECO:0000269|PubMed:15953014, ECO:0000269|PubMed:1898726, ECO:0000269|PubMed:2019583, ECO:000026
PDB 1UMK , 7THG , 7TNV , 7TSW , 7W3O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00970 FAD_binding_6 44 151 Oxidoreductase FAD-binding domain Domain
PF00175 NAD_binding_1 177 285 Oxidoreductase NAD-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Expressed at late stages of erythroid maturation. {ECO:0000269|PubMed:9639531}.
Sequence
Sequence length 301
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Biosynthesis of various nucleotide sugars   Vitamin C (ascorbate) metabolism
Phase I - Functionalization of compounds
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Methemoglobinemia METHEMOGLOBINEMIA, TYPE II, methemoglobinemia, type i rs121965006, rs121965014, rs121965007, rs61732609, rs121965008, rs121965015, rs794728011, rs200872504, rs121965016, rs121965010, rs121965017, rs121965011, rs794728012, rs121965012, rs1299251737
View all (4 more)
N/A
Hereditary Methemoglobinemia hereditary methemoglobinemia rs121965015, rs144071404 N/A
Myopathy Central core myopathy rs144071404 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 32711556, 37715200
Amyloidosis Associate 32711556
Anemia Associate 32697331
Anemia Sickle Cell Associate 32697331
Basal Ganglia Diseases Associate 30614390
Breast Neoplasms Associate 25225034
Cardiomyopathy Familial Restrictive 1 Associate 9695975
Chest Pain Associate 36837579
Congenital Methemoglobinemia Associate 21349748, 2893546, 29482478, 30614390, 36837579, 36984616
Cyanosis Associate 36837579