FADS2 - fatty acid desaturase 2 Gene

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

FADS2 Protein Structure

Cyt-b5

FA_desaturase

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		/	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

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