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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
  • NADH-Cytochrome B5 Reductase 2 3
  • Cytochrome B5 Reductase B5R.2 3

External Ids for CYB5R2 Gene

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. Diseases associated with CYB5R2 include methemoglobinemia. Among its related pathways are PAK Pathway and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include 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

Genomic Location for CYB5R2 Gene

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

Regulatory Elements 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

Domains 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
Domain:
  • Contains 1 FAD-binding FR-type domain.:
    • Q6BCY4
Family:
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.:
    • Q6BCY4
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

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 3
mitochondrion 2
nucleus 2
golgi apparatus 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 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

Compounds for CYB5R2 Gene

(3) HMDB Compounds for CYB5R2 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4

(1) PharmGKB related drug/compound annotations for CYB5R2 Gene

Drug/compound Annotation
metoclopramide
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:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (8.4) and Nerve - Tibial (6.0).

Integrated Proteomics: protein expression 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 expressions with CYB5R2: view

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
chimpanzee
(Pan troglodytes)
Mammalia CYB5R2 36
  • 97 (a)
OneToOne
LOC451005 35
  • 98.55 (n)
  • 97.46 (a)
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
oppossum
(Monodelphis domestica)
Mammalia CYB5R2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R2 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5r2 35
  • 85.39 (n)
  • 82.61 (a)
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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM33 36
  • 28 (a)
ManyToMany
CBR1 35
  • 52.09 (n)
  • 43.72 (a)
CBR1 36
  • 36 (a)
ManyToMany
CBR1 38
PGA3 36
  • 28 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27621g 35
  • 50.2 (n)
  • 44.13 (a)
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

Selected 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
rs11758 -- 7,665,262(+) TGCGC(C/G)AAGGT utr-variant-3-prime
rs13172 -- 7,665,365(+) AGCAC(A/G)TGGAG utr-variant-3-prime
rs13854 -- 7,665,443(+) TGGAT(C/T)AGTGG reference, synonymous-codon, utr-variant-3-prime
rs16411 -- 7,665,375(+) GTGTT(-/TGTT)AGTAG reference, synonymous-codon, utr-variant-3-prime
rs945888 -- 7,673,531(+) GCCCC(A/G)CTCCC utr-variant-5-prime, intron-variant

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

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

(1) MalaCards Diseases for CYB5R2 Gene

Search for CYB5R2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CYB5R2 Gene

Relevant External Links for CYB5R2

Genetic Association Database (GAD)
CYB5R2
Human Genome Epidemiology (HuGE) Navigator
CYB5R2
genes like me logo Genes that share disorders with CYB5R2: view

No data available for UniProtKB/Swiss-Prot 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 3 4
  2. Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa. (PMID: 15858218) Baker M.A. … Aitken R.J. (Biol. Reprod. 2005) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S. … Oliva R. (Proteomics 2011) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for CYB5R2 Gene

Sources for CYB5R2 Gene

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