Gene Gene information from NCBI Gene database.
Entrez ID 1727
Gene name Cytochrome b5 reductase 3
Gene symbol CYB5R3
Synonyms (NCBI Gene)
B5RDIA1
Chromosome 22
Chromosome location 22q13.2
Summary 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.
26
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.
684
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613213 2873 ENSG00000100243
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
108
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Central core myopathy Likely pathogenic; Pathogenic rs144071404 RCV004813125
CYB5R3-related disorder Likely pathogenic; Pathogenic rs543277216, rs121965007 RCV003394253
RCV003415596
Deficiency of cytochrome-b5 reductase Pathogenic; Likely pathogenic rs1223829978, rs750819571, rs543277216, rs1161477501, rs794728013, rs61732609, rs121965016, rs121965017, rs763259379, rs1454054574, rs144071404, rs1601938489 RCV006258073
RCV001527675
RCV001780904
RCV003485758
RCV000986216
RCV003485516
RCV003330378
RCV005632150
RCV002262175
RCV003128217
RCV002498895
RCV000986217
Hereditary methemoglobinemia Pathogenic; Likely pathogenic rs121965015, rs144071404 RCV003764501
RCV000601950
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs137128 RCV005919424
Cervical cancer Benign; Likely benign rs137128, rs150048774 RCV005919426
RCV005922562
Cholangiocarcinoma Benign; Likely benign rs150048774 RCV005922565
CYB5R3 POLYMORPHISM Benign rs1800457 RCV000000268
Associations from Text MiningDisease 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