• Gene id: 9415

Gene Summary

• Gene Symbol: FADS2   Gene   UCSC   Ensembl
• Aliases: D6D, DES6, FADSD6, LLCDL2, SLL0262, TU13
• Gene name: fatty acid desaturase 2
• Alternate names: acyl-CoA 6-desaturase, delta-6 fatty acid desaturase, delta-6-desaturase, linoleoyl-CoA desaturase (delta-6-desaturase)-like 2,
• Gene location: 11q12.2 (61816202: 61867353)     Exons: 13     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family mem
• OMIM: 605044

Protein Summary

• Protein general information: O95864  
  • Name: Acyl CoA 6 desaturase (EC 1.14.19.3) (Delta(6) fatty acid desaturase) (D6D) (Delta(6) desaturase) (Delta 6 desaturase) (Fatty acid desaturase 2)
  • Length: 444  
  • Mass: 52259
  • Tissue specificity: Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with
• Sequence:

  MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDATDAFRAF
  HPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFT
  VFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPN
  IFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAV
  SYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWF
  SGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK

• Structural information:
  • Protein Domains: (18..9-)
    heme-binding (/note="Cytochrome-b5)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00279"-)
  • Interpro: IPR001199  IPR036400  IPR005804  IPR012171  
  • Prosite: PS50255
  • STRING: ENSP00000278840
• Other Databases: GeneCards:  FADS2  Malacards:  FADS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	TAS	biological process
GO:0016213	linoleoyl-CoA desaturase activity	IEA	molecular function
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016213	linoleoyl-CoA desaturase activity	TAS	molecular function
GO:0016213	linoleoyl-CoA desaturase activity	TAS	molecular function
GO:0016213	linoleoyl-CoA desaturase activity	TAS	molecular function
GO:0043651	linoleic acid metabolic process	TAS	biological process
GO:0004768	stearoyl-CoA 9-desaturase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00592	alpha-Linolenic acid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray