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CYB5R2 Gene(Protein Coding)

Cytochrome B5 Reductase 2

GCID:
GC11M007642
GIFtS:
56
Genes Participants
UDN Logo

Aliases for CYB5R2 Gene

Aliases for CYB5R2 Gene

  • Cytochrome B5 Reductase 2 2 3 5
  • EC 1.6.2.2 4 61
  • B5R.2 3 4
  • NADH-Cytochrome B5 Reductase 2 3
  • 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 Erythrocytes take up carbon dioxide and release oxygen and PAK Pathway. 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 CYB5R3.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5R2 Gene

Genomics for CYB5R2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CYB5R2 Gene

Enhancers for CYB5R2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G007670 1.2 ENCODE dbSUPER 27.3 +4.5 4535 4.5 PKNOX1 TBL1XR1 INSM2 FEZF1 RAD21 YY1 EGR1 ZNF207 RELB ETV6 CYB5R2 GC11P007617
GH11G007665 1.1 ENCODE dbSUPER 19.4 +11.2 11164 0.7 HDGF PKNOX1 RB1 ARID4B SIN3A ZNF2 RAD21 ZNF143 KLF7 CREM CYB5R2 LOC105376533 OVCH2 GC11P007617
GH11G007656 1 ENCODE dbSUPER 19.7 +20.1 20063 1.3 CTCF KLF1 ARNT MAX ARID4B RAD21 ZNF335 SMC3 NR2F6 ZNF654 CYB5R2 OLFML1 GC11P007617
GH11G007668 1.1 ENCODE dbSUPER 15.9 +8.1 8128 1.8 PKNOX1 ARNT INSM2 FEZF1 RAD21 ZNF2 ZNF335 ZNF302 ZSCAN5C ZNF391 CYB5R2 OLFML1 EIF3F GC11P007617
GH11G007676 0.9 ENCODE dbSUPER 17.2 -0.1 -109 1.7 PKNOX1 FEZF1 ZNF398 ZIC2 ZNF843 ZNF518A ZFHX2 CTBP1 GLIS1 ZNF701 CYB5R2 EIF3F LOC100506258 LOC105376533 OVCH2 OLFML1 OR10AB1P ENSG00000275612
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYB5R2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CYB5R2 gene promoter:

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

Genes around CYB5R2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5R2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5R2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYB5R2 Gene

Proteins for CYB5R2 Gene

Products:

  1. Antibody
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  3. Assay

  • 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

Protein Expression for CYB5R2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CYB5R2 Gene

Q6BCY4:
  • LWYTLDR
  • MIAGGTGITPM
  • GMIAGGTG
  • AGGTGITPMLQ
  • AKYPLPL
  • FRFGLPSPDHVLGLPVG

Post-translational modifications for CYB5R2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYB5R2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYB5R2 Gene

Protein Domains for CYB5R2 Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
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

Products:

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  2. CRISPR
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  4. Inhibitory RNA
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  7. Flow Cytometry

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 TAS --
GO:0005515 protein binding IPI 16189514
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYB5R2: view

Phenotypes for CYB5R2 Gene

MGI mutant phenotypes for CYB5R2:
inferred from 1 alleles
GenomeRNAi human phenotypes for CYB5R2:
genes like me logo Genes that share phenotypes with CYB5R2: view

Animal Models for CYB5R2 Gene

MGI Knock Outs for CYB5R2:

Animal Model Products

CRISPR Products

miRNA for CYB5R2 Gene

miRTarBase miRNAs that target CYB5R2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYB5R2 Gene

Localization for CYB5R2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYB5R2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
mitochondrion 3
cytosol 3
golgi apparatus 2
lysosome 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:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA,IEA 10611283
GO:0016021 integral component of membrane IEA --
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 BioSystems pathway for CYB5R2 Gene
1 KEGG pathway for CYB5R2 Gene
1 Qiagen pathway for CYB5R2 Gene

Gene Ontology (GO) - Biological Process for CYB5R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0015701 bicarbonate transport TAS --
GO:0016126 sterol biosynthetic process IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isosorbide Dinitrate Approved Pharma 59
Isosorbide Mononitrate Approved Pharma 0
Lidocaine Approved, Vet_approved Pharma Antagonist, Pore Blocker Anasthetic and class Ib antiarrhythmic agent 1317
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 120
Prilocaine Approved Pharma 84

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CYB5R2 Gene

(11) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(103) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYB5R2 Gene

Cytochrome b5 reductase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYB5R2 Gene

mRNA expression in normal human tissues for CYB5R2 Gene
mRNA expression by BioGPS for CYB5R2 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for CYB5R2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYB5R2 Gene:

CYB5R2

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.

Evidence on tissue expression from TISSUES for CYB5R2 Gene

  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with CYB5R2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5R2 Gene

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 LOC451005 34
  • 98.55 (n)
CYB5R2 35
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia CYB5R2 34 35
  • 87.52 (n)
rat
(Rattus norvegicus)
 Mammalia Cyb5r2 34
  • 85.39 (n)
mouse
(Mus musculus)
 Mammalia Cyb5r2 34 16 35
  • 85.14 (n)
cow
(Bos Taurus)
 Mammalia CYB5R2 34 35
  • 84.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia CYB5R2 35
  • 61 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CYB5R2 35
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CYB5R2 34 35
  • 68.62 (n)
lizard
(Anolis carolinensis)
 Reptilia CYB5R2 35
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cyb5r2 34
  • 66.42 (n)
zebrafish
(Danio rerio)
 Actinopterygii cyb5r2 34 35
  • 63.86 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG5946 34 35
  • 57.97 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011300 34
  • 57.94 (n)
worm
(Caenorhabditis elegans)
 Secernentea hpo-19 34 35
  • 59.65 (n)
T05H4.4 35
  • 49 (a)
 ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ADL087W 34
  • 54.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CBR1 34 35 37
  • 52.09 (n)
AIM33 35
  • 28 (a)
 ManyToMany
PGA3 35
  • 28 (a)
 ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F27621g 34
  • 50.2 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU00216 34
  • 52.24 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC970.03 34
  • 51.74 (n)
Species where no ortholog for CYB5R2 was found in the sources mined by GeneCards:
  • 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
rs1000007112 -- 7,676,333(+) TTTTC(A/G)TTTAA intron-variant, upstream-variant-2KB
rs1000015876 -- 7,674,105(+) CCCTC(A/G)GCTTA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000409569 -- 7,666,709(+) TGCTC(C/G)TGAAG intron-variant, utr-variant-3-prime
rs1000482087 -- 7,678,961(+) TTTTT(A/T)AATGA intron-variant, upstream-variant-2KB
rs1000913302 -- 7,674,638(+) ATCAA(A/G)GTGTG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv184e214 CNV gain 21293372
dgv58n21 CNV loss 19592680
esv29577 CNV loss 19812545
esv3625293 CNV gain 21293372
esv3625296 CNV gain 21293372
esv3891925 CNV gain 25118596
nsv1035575 CNV gain 25217958
nsv499766 OTHER inversion 21111241
nsv526297 CNV loss 19592680
nsv553407 CNV loss 21841781
nsv7215 OTHER inversion 18451855

Variation tolerance for CYB5R2 Gene

Residual Variation Intolerance Score: 70.9% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for CYB5R2 Gene.

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 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. 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 64
  4. Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma. (PMID: 26323991) Liu Q. … Zhang W. (Acta Neuropathol. 2015) 3 64
  5. 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) 3 64

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