FADS2 - fatty acid desaturase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9415

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 References 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

FADS2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811257 FADS2 Antibody WB, IHC-P Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (13)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-107410 SC-26196 Inhibitor 99.66% Unkown
HY-113308A Taurolithocholic acid sodium salt 99.81% Unkown
HY-113308 Taurolithocholic acid 99.7% Unkown
HY-113308S1 Taurolithocholic acid-d4 98.36% Unkown
HY-RS04667 FADS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-113308AS Taurolithocholic acid-d4 sodium 99.4% Unkown
HY-113308AS2 Taurolithocholic acid-d4-1 sodium / Unkown
HY-113308S Taurolithocholic acid-d5 / Unkown
HY-E71524 2-Enoate reductase / Unkown
HY-RS11668 RAPSN Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-113308AS1 Taurolithocholic Acid-d5 sodium salt / Unkown
HY-RS16898 Fads2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23340 Fads2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others FADS2 NCBI