• Gene id: 51700

Gene Summary

• Gene Symbol: CYB5R2   Gene   UCSC   Ensembl
• Aliases: B5R.2
• Gene name: cytochrome b5 reductase 2
• Alternate names: NADH-cytochrome b5 reductase 2, cytochrome b5 reductase b5R.2,
• Gene location: 11p15.4 (7678568: 7665094)     Exons: 12     NC_000011.10
• Gene summary(Entrez): 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 desaturatio
• OMIM: 608342

Protein Summary

• Protein general information: Q6BCY4  
  • Name: NADH cytochrome b5 reductase 2 (b5R.2) (EC 1.6.2.2)
  • Length: 276  
  • Mass: 31458
  • Tissue specificity: Restricted expression. {ECO
• Sequence:

  MNSRRREPITLQDPEAKYPLPLIEKEKISHNTRRFRFGLPSPDHVLGLPVGNYVQLLAKIDNELVVRAYTPVSSD
  DDRGFVDLIIKIYFKNVHPQYPEGGKMTQYLENMKIGETIFFRGPRGRLFYHGPGNLGIRPDQTSEPKKTLADHL
  GMIAGGTGITPMLQLIRHITKDPSDRTRMSLIFANQTEEDILVRKELEEIARTHPDQFNLWYTLDRPPIGWKYSS
  GFVTADMIKEHLPPPAKSTLILVCGPPPLIQTAAHPNLEKLGYTQDMIFTY

• Structural information:
  • Protein Domains: (15..12-)
    (/note="FAD-binding-FR-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00716"-)
  • Interpro: IPR001834  IPR008333  IPR017927  IPR001709  IPR039261   IPR001433  IPR017938  
  • Prosite: PS51384
  • STRING: ENSP00000437041
• Other Databases: GeneCards:  CYB5R2  Malacards:  CYB5R2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071949	FAD binding	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	molecular function
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray