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Aliases for CYB5R2 Gene

Aliases for CYB5R2 Gene

  • Cytochrome B5 Reductase 2 2 3 5
  • B5R.2 3 4
  • NADH-Cytochrome B5 Reductase 2 3
  • Cytochrome B5 Reductase B5R.2 3
  • EC 1.6.2.2 4

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. Diseases associated with CYB5R2 include Hypervitaminosis A and Methemoglobinemia. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for CYB5R2 Gene

Promoters and enhancers for CYB5R2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J007670 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 677.3 +4.5 4535 4.5 PKNOX1 STAT5A BATF IRF4 YY1 EGR1 ZNF207 ETV6 IKZF2 RUNX3 CYB5R2 GC11P007617
GH11J007676 Enhancer 0.9 ENCODE dbSUPER 667.2 -0.1 -108 1.7 PKNOX1 MZF1 FEZF1 ZIC2 ZNF335 ZFHX2 CTBP1 ZNF398 ZNF518A ZNF843 CYB5R2 EIF3F LOC100506258 LOC105376533 OVCH2 OLFML1 OR10AB1P ENSG00000275612
GH11J007665 Enhancer 1 ENCODE dbSUPER 19.4 +11.2 11164 0.7 HDGF PKNOX1 RB1 ARID4B SIN3A ZNF2 IRF4 RAD21 ZNF143 KLF7 CYB5R2 LOC105376533 OVCH2 GC11P007617 PPFIBP2
GH11J007019 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10 +656.9 656913 2.5 PKNOX1 ZFP64 ARID4B SIN3A YY1 ETS1 ZNF143 SP3 RXRA SP5 ZNF214 PIR41527 NLRP14 DNHD1 ENSG00000254641 C11orf42 CYB5R2 ARFIP2 GC11M006985 GC11P006959
GH11J007656 Enhancer 0.9 ENCODE dbSUPER 19.6 +20.1 20062 1.3 CTCF KLF1 USF1 ARNT MAX ARID4B SIN3A RAD21 CC2D1A SMC3 CYB5R2 OLFML1 GC11P007617 PPFIBP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYB5R2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYB5R2 gene promoter:
  • Zic3
  • p53
  • Lmo2
  • AML1a
  • Cart-1
  • RSRFC4
  • Chx10
  • Pbx1a
  • MEF-2A

Genomic Locations for CYB5R2 Gene

Genomic Locations for CYB5R2 Gene
chr11:7,665,095-7,677,222
(GRCh38/hg38)
Size:
12,128 bases
Orientation:
Minus strand
chr11:7,686,326-7,698,453
(GRCh37/hg19)
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 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

Post-translational modifications for CYB5R2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYB5R2 Gene

Domains & Families for CYB5R2 Gene

Gene Families for CYB5R2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

Function for CYB5R2 Gene

Molecular function for CYB5R2 Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.

Enzyme Numbers (IUBMB) for CYB5R2 Gene

Phenotypes From GWAS Catalog 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 IBA,IEA --
GO:0071949 FAD binding IBA --
genes like me logo Genes that share ontologies with CYB5R2: view
genes like me logo Genes that share phenotypes with CYB5R2: view

Animal Models for CYB5R2 Gene

MGI Knock Outs for CYB5R2:
  • Cyb5r2 Cyb5r2<tm1a(EUCOMM)Hmgu>

Animal Model Products

miRNA for CYB5R2 Gene

miRTarBase miRNAs that target CYB5R2

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYB5R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IBA,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 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isosorbide Dinitrate Approved, Investigational Pharma 62
Isosorbide Mononitrate Approved Pharma 0
Metoclopramide Approved, Investigational Pharma Dopamine receptor antagonist 126
Primaquine Approved Pharma 80
Rasburicase Approved, Investigational Pharma 32

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

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 33
  • 98.55 (n)
CYB5R2 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYB5R2 34 33
  • 87.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5r2 33
  • 85.39 (n)
mouse
(Mus musculus)
Mammalia Cyb5r2 16 34 33
  • 85.14 (n)
cow
(Bos Taurus)
Mammalia CYB5R2 34 33
  • 84.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB5R2 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5R2 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYB5R2 34 33
  • 68.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB5R2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5r2 33
  • 66.42 (n)
zebrafish
(Danio rerio)
Actinopterygii cyb5r2 34 33
  • 63.86 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5946 34 33
  • 57.97 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011300 33
  • 57.94 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-19 34 33
  • 59.65 (n)
ManyToMany
T05H4.4 34
  • 49 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL087W 33
  • 54.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBR1 36 34 33
  • 52.09 (n)
PGA3 34
  • 28 (a)
ManyToMany
AIM33 34
  • 28 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27621g 33
  • 50.2 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00216 33
  • 52.24 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC970.03 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYB5R2: view image

Paralogs for CYB5R2 Gene

Paralogs for CYB5R2 Gene

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

  • NB5R2_HUMAN
  • E9PIV9_HUMAN
  • E9PMI2_HUMAN
  • E9PQW2_HUMAN
  • E9PRM4_HUMAN
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 Variation AA Info Type
rs1000007112 -- 7,676,333(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000015876 -- 7,674,105(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000409569 -- 7,666,709(-) C/G intron_variant
rs1000482087 -- 7,678,961(-) A/T upstream_transcript_variant
rs1000913302 -- 7,674,638(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information for CYB5R2 Gene

Human Gene Mutation Database (HGMD)
CYB5R2
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

MalaCards: The human disease database

(2) MalaCards diseases for CYB5R2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypervitaminosis a
  • hypervitaminosis a, susceptibility to
methemoglobinemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYB5R2

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

No data available for 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 HF (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa. (PMID: 15858218) Baker MA … Aitken RJ (Biology of reproduction 2005) 3 4 58
  4. Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma. (PMID: 26323991) Liu Q … Zhang W (Acta neuropathologica 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for CYB5R2 Gene

Sources for CYB5R2 Gene

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