1. Gene
  2. FAR2 - fatty acyl-CoA reductase 2 Gene

FAR2 - fatty acyl-CoA reductase 2 Gene

中文名称:脂酰辅酶 A 还原酶 2

种属: Homo sapiens

同用名: MLSTD1; SDR10E2; HEL-S-81

基因 ID: 55711 | 基因类型: protein coding

关于 FAR2

Cytogenetic location: 12p11.22 Genomic coordinates (GRCh38): 12:29,149,278-29,335,616 (from NCBI)

This gene has 25 transcripts (splice variants), 251 orthologues and 1 paralogue. Broad expression in colon (RPKM 8.7), small intestine (RPKM 5.0) and 22 other tissues.

功能概要

该基因属于短链脱氢酶/还原酶超家族。它编码参与蜡生物合成第一步的还原酶,其中脂肪酸被转化为脂肪醇。编码的过氧化物酶体蛋白利用 16 或 18 个碳的饱和脂肪酸作为首选底物。已观察到该基因的可变剪接转录物变体。已在 2、14 和 22 号染色体上鉴定出相关的假基因。[RefSeq 提供,2012 年 11 月]

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase Enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

FAR2 基因产物(3)

mRNA Protein Name
NM_001271783.2 NP_001258712.1 fatty acyl-CoA reductase 2 isoform 1
NM_001271784.2 NP_001258713.1 fatty acyl-CoA reductase 2 isoform 2
NM_018099.5 NP_060569.3 fatty acyl-CoA reductase 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alcohol-forming very long-chain fatty acyl-CoA reductase activity IDA
IDA: 通过直接分析推断
15220348 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in long-chain fatty-acyl-CoA metabolic process IDA
IDA: 通过直接分析推断
15220348 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in peroxisomal membrane IDA
IDA: 通过直接分析推断
24108123 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

FAR2 蛋白结构

NAD_binding_4

NAD_binding_4: Male sterility protein (15 - 285)

Sterile

Sterile: Male sterility protein (356 - 448)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 515 a.a.
蛋白主名 其他名称

fatty acyl-CoA reductase 2

epididymis secretory protein Li 81

关联疾病

疾病名称 别名
Retinitis Pigmentosa 27

RP27

Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type

Retinal Degeneration Autosomal Recessive Clumped Pigment Type

RDCP

Clumped Pigmentary Retinal Degeneration

Retinitis Pigmentosa, Type 27

Necatoriasis

Miner'S Anaemia

Negro Cachexia

Dochmiasis

Ground Itch Disease

Brickmaker'S Chlorosis

Coolie Itch Anaemia

Cachexia Aquosa

Dew Itch Anaemia

Brickmaker'S Anaemia

Tunnel Worker'S Anaemia

Egyptian Anaemia

Tunnel Worker'S Disease

Miner'S Cachexia

Greisinger Disease

Tropical Chlorosis

Egyptian Chlorosis

Tunnel Anaemia

Dochmiosis

Necatorosis

African Cachexia

Water Itch Anaemia

Infection Due To Necator Americanus

St Gotthard Disease

Gotthard Tunnel Disease

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus FAR2 VGNC VGNC:28864
Felis catus FAR2 VGNC VGNC:62148
Mus musculus FAR2 MGD MGI:2687035
Rattus norvegicus FAR2 RGD RGD:1565966
Macaca mulatta FAR2 VGNC VGNC:81403
Canis familiaris FAR2 VGNC VGNC:40729