• Gene id: 124936

Gene Summary

• Gene Symbol: CYB5D2   Gene   UCSC   Ensembl
• Gene name: cytochrome b5 domain containing 2
• Alternate names: neuferricin, cytochrome b5 domain-containing protein 2,
• Gene location: 17p13.2 (4143116: 4157700)     Exons: 7     NC_000017.11

Protein Summary

• Protein general information: Q8WUJ1  
  • Name: Neuferricin (Cytochrome b5 domain containing protein 2)
  • Length: 264  
  • Mass: 28690
• Sequence:

  MLRCGGRGLLLGLAVAAAAVMAARLMGWWGPRAGFRLFIPEELSRYRGGPGDPGLYLALLGRVYDVSSGRRHYEP
  GSHYSGFAGRDASRAFVTGDCSEAGLVDDVSDLSAAEMLTLHNWLSFYEKNYVCVGRVTGRFYGEDGLPTPALTQ
  VEAAITRGLEANKLQLQEKQTFPPCNAEWSSARGSRLWCSQKSGGVSRDWIGVPRKLYKPGAKEPRCVCVRTTGP
  PSGQMPDNPPHRNRGDLDHPNLAEYTGCPPLAITCSFPL

• Structural information:
  • Protein Domains: (35..13-)
    heme-binding" (/note="Cytochrome-b5)
  • Interpro: IPR001199  IPR036400  
  • STRING: ENSP00000301391
• Other Databases: GeneCards:  CYB5D2  Malacards:  CYB5D2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0012505	endomembrane system	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0020037	heme binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)