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Aliases for CYB5R2 Gene

Aliases for CYB5R2 Gene

  • Cytochrome B5 Reductase 2 2 3
  • EC 1.6.2.2 4 63
  • B5R.2 3 4
  • Cytochrome B5 Reductase B5R.2 3

External Ids for CYB5R2 Gene

Previous GeneCards Identifiers for CYB5R2 Gene

  • GC11M008146
  • GC11M007645
  • GC11M007650
  • GC11M007345

Summaries for CYB5R2 Gene

Entrez Gene Summary for CYB5R2 Gene

  • The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for CYB5R2 Gene

CYB5R2 (Cytochrome B5 Reductase 2) is a Protein Coding gene. Among its related pathways are PAK Pathway and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include oxidoreductase activity and cytochrome-b5 reductase activity, acting on NAD(P)H. An important paralog of this gene is CYB5R1.

UniProtKB/Swiss-Prot for CYB5R2 Gene

  • NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).

Gene Wiki entry for CYB5R2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5R2 Gene

Genomics for CYB5R2 Gene

Regulatory Elements for CYB5R2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYB5R2 Gene

Chromosome:
11
Start:
7,665,095 bp from pter
End:
7,677,222 bp from pter
Size:
12,128 bases
Orientation:
Minus strand

Genomic View for CYB5R2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYB5R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5R2 Gene

Proteins for CYB5R2 Gene

  • Protein details for CYB5R2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6BCY4-NB5R2_HUMAN
    Recommended name:
    NADH-cytochrome b5 reductase 2
    Protein Accession:
    Q6BCY4
    Secondary Accessions:
    • Q9BVA3
    • Q9UF68
    • Q9UHJ0

    Protein attributes for CYB5R2 Gene

    Size:
    276 amino acids
    Molecular mass:
    31458 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYB5R2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5R2 Gene

Proteomics data for CYB5R2 Gene at MOPED

Selected DME Specific Peptides for CYB5R2 Gene

Post-translational modifications for CYB5R2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for CYB5R2 Gene

Suggested Antigen Peptide Sequences for CYB5R2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6BCY4

UniProtKB/Swiss-Prot:

NB5R2_HUMAN :
  • Contains 1 FAD-binding FR-type domain.
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Domain:
  • Contains 1 FAD-binding FR-type domain.
Family:
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
genes like me logo Genes that share domains with CYB5R2: view

No data available for Gene Families for CYB5R2 Gene

Function for CYB5R2 Gene

Molecular function for CYB5R2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5
UniProtKB/Swiss-Prot Function:
NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).

Enzyme Numbers (IUBMB) for CYB5R2 Gene

Gene Ontology (GO) - Molecular Function for CYB5R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H IDA 10611283
GO:0005515 protein binding IPI 16189514
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with CYB5R2: view

Phenotypes for CYB5R2 Gene

GenomeRNAi human phenotypes for CYB5R2:
genes like me logo Genes that share phenotypes with CYB5R2: view

Animal Model Products

miRNA for CYB5R2 Gene

miRTarBase miRNAs that target CYB5R2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYB5R2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CYB5R2 Gene

Localization for CYB5R2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYB5R2 Gene COMPARTMENTS Subcellular localization image for CYB5R2 gene
Compartment Confidence
nucleus 5
golgi apparatus 2
mitochondrion 2
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYB5R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IEA --
GO:0016020 membrane IDA 10611283
genes like me logo Genes that share ontologies with CYB5R2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CYB5R2 Gene

Pathways & Interactions for CYB5R2 Gene

genes like me logo Genes that share pathways with CYB5R2: view

Pathways by source for CYB5R2 Gene

1 Qiagen pathway for CYB5R2 Gene
1 BioSystems pathway for CYB5R2 Gene
1 KEGG pathway for CYB5R2 Gene

Gene Ontology (GO) - Biological Process for CYB5R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016126 sterol biosynthetic process IEA --
GO:0055114 oxidation-reduction process IDA 10611283
genes like me logo Genes that share ontologies with CYB5R2: view

No data available for SIGNOR curated interactions for CYB5R2 Gene

Drugs & Compounds for CYB5R2 Gene

(6) Drugs for CYB5R2 Gene - From: HMDB and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 95
Primaquine Approved Pharma 58
Rasburicase Approved, Investigational Pharma 25
FAD Approved Pharma 0
NAD Pharma Agonist, Activator 0

(1) Additional Compounds for CYB5R2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CYB5R2: view

Transcripts for CYB5R2 Gene

Unigene Clusters for CYB5R2 Gene

Cytochrome b5 reductase 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYB5R2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5R2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1:
SP2: -
SP3: -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9: -
SP10: -

Relevant External Links for CYB5R2 Gene

GeneLoc Exon Structure for
CYB5R2
ECgene alternative splicing isoforms for
CYB5R2

Expression for CYB5R2 Gene

mRNA expression in normal human tissues for CYB5R2 Gene

mRNA differential expression in normal tissues according to GTEx for CYB5R2 Gene

This gene is overexpressed in Testis (x8.4) and Nerve - Tibial (x6.0).

Protein differential expression in normal tissues from HIPED for CYB5R2 Gene

This gene is overexpressed in Ovary (15.7) and Salivary gland (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYB5R2 Gene



SOURCE GeneReport for Unigene cluster for CYB5R2 Gene Hs.414362

mRNA Expression by UniProt/SwissProt for CYB5R2 Gene

Q6BCY4-NB5R2_HUMAN
Tissue specificity: Restricted expression.
genes like me logo Genes that share expression patterns with CYB5R2: view

Protein tissue co-expression partners for CYB5R2 Gene

Primer Products

In Situ Assay Products

Orthologs for CYB5R2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CYB5R2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYB5R2 35
  • 84.61 (n)
  • 80.36 (a)
CYB5R2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYB5R2 35
  • 87.52 (n)
  • 85.09 (a)
CYB5R2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyb5r2 35
  • 85.14 (n)
  • 82.25 (a)
Cyb5r2 16
Cyb5r2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC451005 35
  • 98.55 (n)
  • 97.46 (a)
CYB5R2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5r2 35
  • 85.39 (n)
  • 82.61 (a)
oppossum
(Monodelphis domestica)
Mammalia CYB5R2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R2 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYB5R2 35
  • 68.62 (n)
  • 68.86 (a)
CYB5R2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB5R2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5r2 35
  • 66.42 (n)
  • 66.55 (a)
zebrafish
(Danio rerio)
Actinopterygii cyb5r2 35
  • 63.86 (n)
  • 62.64 (a)
cyb5r2 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011300 35
  • 57.94 (n)
  • 58.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5946 35
  • 57.97 (n)
  • 57.72 (a)
CG5946 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-19 35
  • 59.65 (n)
  • 58.65 (a)
hpo-19 36
  • 50 (a)
ManyToMany
T05H4.4 36
  • 49 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL087W 35
  • 54.83 (n)
  • 45.33 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27621g 35
  • 50.2 (n)
  • 44.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBR1 35
  • 52.09 (n)
  • 43.72 (a)
AIM33 36
  • 28 (a)
ManyToMany
CBR1 36
  • 36 (a)
ManyToMany
PGA3 36
  • 28 (a)
ManyToMany
CBR1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU00216 35
  • 52.24 (n)
  • 43.27 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC970.03 35
  • 51.74 (n)
  • 43.51 (a)
Species with no ortholog for CYB5R2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYB5R2 Gene

ENSEMBL:
Gene Tree for CYB5R2 (if available)
TreeFam:
Gene Tree for CYB5R2 (if available)

Paralogs for CYB5R2 Gene

Paralogs for CYB5R2 Gene

(2) SIMAP similar genes for CYB5R2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CYB5R2: view

Variants for CYB5R2 Gene

Sequence variations from dbSNP and Humsavar for CYB5R2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs945888 -- 7,673,531(+) GCCCC(A/G)CTCCC intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant
rs1122643 -- 7,671,499(-) GGCAG(A/G)AAGCC intron-variant
rs3885295 -- 7,671,374(-) CTCTG(C/G)GAGAG intron-variant
rs3897382 -- 7,673,233(+) AGGAC(A/G)TCACC intron-variant, upstream-variant-2KB
rs3903566 -- 7,673,685(+) TTCAA(C/T)ACTCC intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CYB5R2 Gene

Variant ID Type Subtype PubMed ID
nsv7215 OTHER Inversion 18451855
nsv499766 OTHER Inversion 21111241
dgv58n21 CNV Loss 19592680
esv29577 CNV Loss 19812545
nsv526297 CNV Loss 19592680

Variation tolerance for CYB5R2 Gene

Residual Variation Intolerance Score: 70.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.95; 83.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYB5R2 Gene

HapMap Linkage Disequilibrium report
CYB5R2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5R2 Gene

Disorders for CYB5R2 Gene

Relevant External Links for CYB5R2

Genetic Association Database (GAD)
CYB5R2
Human Genome Epidemiology (HuGE) Navigator
CYB5R2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYB5R2
genes like me logo Genes that share disorders with CYB5R2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYB5R2 Gene

Publications for CYB5R2 Gene

  1. Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells. (PMID: 10611283) Zhu H. … Bunn H.F. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  3. Cytochrome b5 reductase 2 is a novel candidate tumor suppressor gene frequently inactivated by promoter hypermethylation in human nasopharyngeal carcinoma. (PMID: 24338690) Xiao X. … Zeng X. (Tumour Biol. 2014) 67
  4. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. (PMID: 23972371) Franceschini N. … Zhu X. (Am. J. Hum. Genet. 2013) 67
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 67

Products for CYB5R2 Gene

Sources for CYB5R2 Gene

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