Human Gene FAR2 (uc001ris.5)
  Description: Homo sapiens fatty acyl CoA reductase 2 (FAR2), transcript variant 1, mRNA.
RefSeq Summary (NM_001271783): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:29,301,936-29,488,549 Size: 186,614 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr12:29,423,383-29,486,727 Size: 63,345 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:29,301,936-29,488,549)mRNA (may differ from genome)Protein (515 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FACR2_HUMAN
DESCRIPTION: RecName: Full=Fatty acyl-CoA reductase 2; EC=1.2.1.n2; AltName: Full=Male sterility domain-containing protein 1;
FUNCTION: Catalyzes the reduction of fatty acyl-CoA to fatty alcohols. The preferred substrates are C16, C18, C18:1 and C18:2 but low activity can be observed with C10-C14 substrates.
CATALYTIC ACTIVITY: Hexadecanal + CoA + NADP(+) = hexadecanoyl-CoA + NADPH.
SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Note=Peroxisome in cells expressing low levels of the protein. Peroxisome and endoplasmic reticulum in cells expressing high levels of the protein.
SIMILARITY: Belongs to the fatty acyl-CoA reductase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FAR2
CDC HuGE Published Literature: FAR2
Positive Disease Associations: Platelet Count
Related Studies:
  1. Platelet Count
    Christian Gieger et al. Nature 2011, New gene functions in megakaryopoiesis and platelet formation., Nature. [PubMed 22139419]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.35 RPKM in Colon - Transverse
Total median expression: 94.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -200.50443-0.453 Picture PostScript Text
3' UTR -435.091822-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026055 - FAR
IPR013120 - Male_sterile_NAD-bd
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF01073 - 3-beta hydroxysteroid dehydrogenase/isomerase family
PF01370 - NAD dependent epimerase/dehydratase family
PF02719 - Polysaccharide biosynthesis protein
PF03015 - Male sterility protein
PF07993 - Male sterility protein

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on Q96K12
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity
GO:0080019 fatty-acyl-CoA reductase (alcohol-forming) activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0010025 wax biosynthetic process
GO:0035336 long-chain fatty-acyl-CoA metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AL136843 - Homo sapiens mRNA; cDNA DKFZp434C0730 (from clone DKFZp434C0730).
AK314670 - Homo sapiens cDNA, FLJ95518.
AK001324 - Homo sapiens cDNA FLJ10462 fis, clone NT2RP1001494, weakly similar to MALE STERILITY PROTEIN 2.
BC018460 - Homo sapiens cDNA clone IMAGE:4708811, partial cds.
BC022267 - Homo sapiens fatty acyl CoA reductase 2, mRNA (cDNA clone MGC:22328 IMAGE:4732586), complete cds.
GQ472211 - Homo sapiens epididymis secretory protein Li 81 (HEL-S-81) mRNA, complete cds.
AK027756 - Homo sapiens cDNA FLJ14850 fis, clone PLACE1000636, weakly similar to MALE STERILITY PROTEIN 2.
AK129857 - Homo sapiens cDNA FLJ26347 fis, clone HRT04242.
AK001927 - Homo sapiens cDNA FLJ11065 fis, clone PLACE1004868, weakly similar to MALE STERILITY PROTEIN 2.
CU692520 - Synthetic construct Homo sapiens gateway clone IMAGE:100022331 5' read MLSTD1 mRNA.
KJ894242 - Synthetic construct Homo sapiens clone ccsbBroadEn_03636 FAR2 gene, encodes complete protein.
JD245170 - Sequence 226194 from Patent EP1572962.
JD020914 - Sequence 1938 from Patent EP1572962.
JD035154 - Sequence 16178 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04146 - Peroxisome

Reactome (by CSHL, EBI, and GO)

Protein Q96K12 (Reactome details) participates in the following event(s):

R-HSA-390438 FAR2 reduces PalmCoA to HXOL
R-HSA-8848584 Wax biosynthesis
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: FACR2_HUMAN, MLSTD1, NM_001271783, NP_001258712, Q96K12, Q9H0D5, Q9NVW8, uc001ris.4
UCSC ID: uc001ris.5
RefSeq Accession: NM_001271783
Protein: Q96K12 (aka FACR2_HUMAN)
CCDS: CCDS8717.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001271783.1
exon count: 12CDS single in 3' UTR: no RNA size: 3838
ORF size: 1548CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3177.50frame shift in genome: no % Coverage: 99.35
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.