FAR2 - fatty acyl-CoA reductase 2 Gene

Also Known as MLSTD1; SDR10E2; HEL-S-81

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55711

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables alcohol-forming very long-chain fatty acyl-CoA reductase activity IDA
IDA: Inferred from direct assay
15220348 GOA
Biological Process GO Annotation Evidence References Source
involved in long-chain fatty-acyl-CoA metabolic process IDA
IDA: Inferred from direct assay
15220348 GOA
Cellular Component GO Annotation Evidence References Source
located in peroxisomal membrane IDA
IDA: Inferred from direct assay
24108123 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

FAR2 Protein Structure

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.
Protein Preferred Names Protein Names

fatty acyl-CoA reductase 2

  • epididymis secretory protein Li 81

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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
Others FAR2 NCBI