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

FADS2 - fatty acid desaturase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：脂肪酸去饱和酶 2

种属: Homo sapiens

同用名: D6D; DES6; TU13; FADSD6; LLCDL2; SLL0262

基因 ID: 9415 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是脂肪酸去饱和酶 (FADS) 基因家族的成员。去饱和酶通过在脂肪酰基链的定义碳之间引入双键来调节脂肪酸的不饱和度。 FADS 家族成员被认为是由 N 端细胞色素 b5 样结构域和 C 端多跨膜去饱和酶部分组成的融合产物，两者都具有保守的组氨酸基序特征。该基因与家族成员聚集在 11q12-q13.1；该簇被认为是基于其相似的外显子/内含子组织从基因复制进化而来的。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2013 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FADS2 蛋白结构

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.
蛋白主名 其他名称

acyl-CoA 6-desaturase

delta-6 fatty acid desaturase

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-107410 SC-26196 Inhibitor 99.68% 否
HY-RS04667 FADS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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