2. Gene
  3. FADS2 - fatty acid desaturase 2 Gene

FADS2 - fatty acid desaturase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as D6D; DES6; TU13; FADSD6; LLCDL2; SLL0262

Gene ID: 9415 | Gene type: protein coding

About FADS2

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,816,203-61,867,354 (from NCBI)

This gene has 15 transcripts (splice variants), 234 orthologues and 3 paralogues. Broad expression in adrenal (RPKM 104.8), brain (RPKM 64.0) and 16 other tissues.

Summary

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 members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

FADS2 Products(3)

mRNA Protein Name
NM_001281501.1 NP_001268430.1 acyl-CoA 6-desaturase isoform 2
NM_001281502.1 NP_001268431.1 acyl-CoA 6-desaturase isoform 3
NM_004265.4 NP_004256.1 acyl-CoA 6-desaturase isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FADS2 Protein Structure

Cyt-b5

Cyt-b5: Cytochrome b5-like Heme/Steroid binding domain (20 - 94)

FA_desaturase

FA_desaturase: Fatty acid desaturase (157 - 416)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 444 a.a.
Protein Preferred Names Protein Names

acyl-CoA 6-desaturase

delta-6 fatty acid desaturase

Related Diseases

Diseases Alias
Fetal Akinesia Deformation Sequence 4

FADS4

Fetal Akinesia Deformation Sequence Syndrome 4

Akinesia, Fetal, Deformation Sequence, Type 4
Hyperlipoproteinemia, Type V

Hyperlipoproteinemia Type V

Hyperchylomicronemia, Late-Onset

Familial Type 5 Hyperlipoproteinemia

Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

Hyperlipidemia, Type V

Hyperlipemia, Mixed

Hyperlipemia, Combined Fat And Carbohydrate-Induced

Familial Hyperlipoproteinemia Type V

Fredrickson Type V Lipaemia

Hyperlipoproteinemia Type 5

Hyperchylomicronemia Late Onset

Hyperlipemia Combined Fat And Carbohydrate-Induced

Hyperlipemia Mixed

Hyperlipidemia Type V

Mixed Hyperlipemia

Type V Hyperlipoproteinemia

Hyperlipoproteinemia 5

HLPP5

Hyperlipidemia, Familial Combined

Mixed Hyperlipidemia
Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I
Diabetes Mellitus

Diabetes
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-107410 SC-26196 Inhibitor 99.68% Unkown
HY-RS04667 FADS2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FADS2 RGD RGD:68339
Canis familiaris FADS2 VGNC VGNC:40564
Felis catus FADS2 VGNC VGNC:62038
Macaca mulatta FADS2 VGNC VGNC:72472
Mus musculus FADS2 MGD MGI:1930079
Bos taurus FADS2 VGNC VGNC:28702