FAR2 Gene (Protein Coding)

Fatty Acyl-CoA Reductase 2

GC12P029145
GIFtS:
41
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 thi... See more...

Aliases for FAR2 Gene

Aliases for FAR2 Gene

  • Fatty Acyl-CoA Reductase 2 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 10E, Member 2 2 3
  • Male Sterility Domain-Containing Protein 1 3 4
  • SDR10E2 2 3
  • MLSTD1 3 4
  • Male Sterility Domain Containing 1 2
  • Epididymis Secretory Protein Li 81 3
  • EC 1.2.1.n2 51
  • EC 1.2.1.84 4
  • HEL-S-81 3
  • FLJ10462 2
  • FAR2 5

External Ids for FAR2 Gene

Previous HGNC Symbols for FAR2 Gene

  • MLSTD1

Previous GeneCards Identifiers for FAR2 Gene

  • GC12P029268
  • GC12P029376
  • GC12P029302

Summaries for FAR2 Gene

Entrez Gene Summary for FAR2 Gene

  • 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]

GeneCards Summary for FAR2 Gene

FAR2 (Fatty Acyl-CoA Reductase 2) is a Protein Coding gene. Diseases associated with FAR2 include Fanconi Anemia, Complementation Group B and Necatoriasis. Among its related pathways are Wax biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include NAD binding and coenzyme binding. An important paralog of this gene is FAR1.

UniProtKB/Swiss-Prot Summary for FAR2 Gene

  • Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates (PubMed:15220348). It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity).

Additional gene information for FAR2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAR2 Gene

Genomics for FAR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FAR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J029147 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 255.3 +0.1 134 3.1 TBP ZBTB10 SMAD5 BHLHE40 ELF1 ZIC2 VEZF1 KLF7 ZNF341 KLF9 FAR2 lnc-CCDC91-3 LOC100506606 ENSG00000275278 ENSG00000257258 ERGIC2
GH12J029223 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 269.3 +77.0 77000 8.2 ATF2 GATA2 POU5F1 CREB1 ZNF169 CEBPB NANOG ATF7 CEBPG FAR2 LOC100506606 lnc-ERGIC2-6 piR-30204-001 ERGIC2
GH12J029179 Promoter 0.3 EPDnew 250.3 +30.5 30454 0.1 FAR2 piR-30204-001 lnc-ERGIC2-6 ERGIC2
GH12J029239 Enhancer 1.3 FANTOM5 Ensembl ENCODE 22.8 +92.9 92900 7.6 SP1 BCL11A FEZF1 CEBPA HES1 ZIC2 TRIM22 IRF4 GABPA RXRA LOC100506606 FAR2 piR-38423-012 lnc-ERGIC2-6 ERGIC2
GH12J029379 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8 +231.7 231699 3.2 CHD2 TBP SP1 CEBPA NR2C1 MNT DEK BRCA1 SMAD5 MBD2 ERGIC2 HSALNG0090099 LOC100506606 FAR2 piR-43325-022
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAR2

Top Transcription factor binding sites by QIAGEN in the FAR2 gene promoter:
  • Evi-1
  • MZF-1
  • NF-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-5
  • Pbx1a
  • POU6F1 (c2)

Genomic Locations for FAR2 Gene

Latest Assembly
chr12:29,149,101-29,340,980
(GRCh38/hg38)
Size:
191,880 bases
Orientation:
Plus strand

Previous Assembly
chr12:29,302,211-29,488,549
(GRCh37/hg19 by Entrez Gene)
Size:
186,339 bases
Orientation:
Plus strand

chr12:29,302,036-29,493,913
(GRCh37/hg19 by Ensembl)
Size:
191,878 bases
Orientation:
Plus strand

Genomic View for FAR2 Gene

Genes around FAR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAR2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAR2 Gene

Proteins for FAR2 Gene

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  • Protein details for FAR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96K12-FACR2_HUMAN
    Recommended name:
    Fatty acyl-CoA reductase 2
    Protein Accession:
    Q96K12
    Secondary Accessions:
    • F8VV73
    • Q9H0D5
    • Q9NVW8

    Protein attributes for FAR2 Gene

    Size:
    515 amino acids
    Molecular mass:
    59438 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAR2 Gene

Protein Expression for FAR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FAR2 Gene

Q96K12:
  • IARSQMARN
  • SYFRASST
  • FNFDVRQL
  • TGATGFLGKVL

Post-translational modifications for FAR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FAR2 Gene

Gene Families for FAR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FAR2 Gene

InterPro:
Blocks:
  • Male sterility C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for FAR2 Gene

GenScript: Design optimal peptide antigens:
  • Male sterility domain-containing protein 1 (FACR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96K12

UniProtKB/Swiss-Prot:

FACR2_HUMAN :
  • Belongs to the fatty acyl-CoA reductase family.
Family:
  • Belongs to the fatty acyl-CoA reductase family.
genes like me logo Genes that share domains with FAR2: view

Function for FAR2 Gene

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  6. Cell Lines for research

Molecular function for FAR2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates (PubMed:15220348). It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a long-chain fatty acyl-CoA + 2 H(+) + 2 NADPH = a long-chain primary fatty alcohol + CoA + 2 NADP(+); Xref=Rhea:RHEA:52716, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:77396, ChEBI:CHEBI:83139; EC=1.2.1.84; Evidence={ECO:0000269|PubMed:15220348};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + hexadecanoyl-CoA + 2 NADPH = CoA + hexadecan-1-ol + 2 NADP(+); Xref=Rhea:RHEA:36315, ChEBI:CHEBI:15378, ChEBI:CHEBI:16125, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.2.1.84; Evidence={ECO:0000269|PubMed:15220348};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + 2 NADPH + octadecanoyl-CoA = CoA + 2 NADP(+) + octadecan-1-ol; Xref=Rhea:RHEA:36319, ChEBI:CHEBI:15378, ChEBI:CHEBI:32154, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.2.1.84; Evidence={ECO:0000250|UniProtKB:Q7TNT2};.

Enzyme Numbers (IUBMB) for FAR2 Gene

Phenotypes From GWAS Catalog for FAR2 Gene

Gene Ontology (GO) - Molecular Function for FAR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA,TAS --
GO:0080019 fatty-acyl-CoA reductase (alcohol-forming) activity IEA,IDA 15220348
GO:0102965 alcohol-forming fatty acyl-CoA reductase activity IEA --
genes like me logo Genes that share ontologies with FAR2: view
genes like me logo Genes that share phenotypes with FAR2: view

Animal Models for FAR2 Gene

MGI Knock Outs for FAR2:
  • Far2 Far2<tm2b(KOMP)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAR2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAR2 Gene

Localization for FAR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAR2 Gene

Peroxisome membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAR2 gene
Compartment Confidence
peroxisome 5
cytosol 3
mitochondrion 2
nucleus 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,ISS --
GO:0005778 peroxisomal membrane IEA --
GO:0005779 integral component of peroxisomal membrane IDA 24108123
GO:0005782 peroxisomal matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FAR2: view

Pathways & Interactions for FAR2 Gene

PathCards logo

SuperPathways for FAR2 Gene

genes like me logo Genes that share pathways with FAR2: view

Pathways by source for FAR2 Gene

1 KEGG pathway for FAR2 Gene

Gene Ontology (GO) - Biological Process for FAR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0010025 wax biosynthetic process TAS --
GO:0035336 long-chain fatty-acyl-CoA metabolic process IDA 15220348
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FAR2: view

No data available for SIGNOR curated interactions for FAR2 Gene

Drugs & Compounds for FAR2 Gene

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(12) Drugs for FAR2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-Hexadecanol Approved Pharma 0
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved Pharma 0
1-Butanol Experimental Pharma 0
Dodecanol Experimental Pharma 0

(38) Additional Compounds for FAR2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
 1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
 4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
 38795-33-4
genes like me logo Genes that share compounds with FAR2: view

Transcripts for FAR2 Gene

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mRNA/cDNA for FAR2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAR2

Alternative Splicing Database (ASD) splice patterns (SP) for FAR2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -
SP3: - - - -
SP4: - - - - -
SP5: -
SP6:

Relevant External Links for FAR2 Gene

GeneLoc Exon Structure for
FAR2

Expression for FAR2 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAR2 Gene

mRNA expression in normal human tissues for FAR2 Gene
mRNA expression by BioGPS for FAR2 GenemRNA expression by GTEx for FAR2 Gene

mRNA differential expression in normal tissues according to GTEx for FAR2 Gene

This gene is overexpressed in Whole Blood (x8.4).

Protein differential expression in normal tissues from HIPED for FAR2 Gene

This gene is overexpressed in Lung (56.8) and Platelet (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAR2 Gene



Protein tissue co-expression partners for FAR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAR2

SOURCE GeneReport for Unigene cluster for FAR2 Gene:

Hs.728955

Evidence on tissue expression from TISSUES for FAR2 Gene

  • Heart(4.3)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with FAR2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAR2 Gene

Orthologs for FAR2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FAR2 30 31
  • 99.61 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FAR2 30 31
  • 91.33 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FAR2 30 31
  • 88.93 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Far2 30 17 31
  • 84.01 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Far2 30
  • 83.43 (n)
Oppossum
(Monodelphis domestica)
 Mammalia FAR2 31
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FAR2 31
  • 49 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FAR2 30 31
  • 67.96 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 62 (a)
 OneToMany
-- 31
  • 52 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii FAR2 31
  • 61 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5065 30 31
  • 48.37 (n)
 ManyToMany
CG12268 31
  • 34 (a)
 ManyToMany
CG14893 31
  • 34 (a)
 ManyToMany
CG4020 31
  • 33 (a)
 ManyToMany
CG17560 31
  • 33 (a)
 ManyToMany
CG17562 31
  • 32 (a)
 ManyToMany
CG10097 31
  • 32 (a)
 ManyToMany
CG10096 31
  • 32 (a)
 ManyToMany
CG8306 31
  • 31 (a)
 ManyToMany
CG13091 31
  • 31 (a)
 ManyToMany
CG1441 31
  • 31 (a)
 ManyToMany
CG30427 31
  • 31 (a)
 ManyToMany
CG1443 31
  • 30 (a)
 ManyToMany
CG18031 31
  • 28 (a)
 ManyToMany
CG4770 31
  • 28 (a)
 ManyToMany
CG34342 31
  • 26 (a)
 ManyToMany
CG8303 31
  • 25 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009690 30
  • 39.47 (n)
Worm
(Caenorhabditis elegans)
 Secernentea fard-1 30 31
  • 48.99 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons MS2 30
  • 45.34 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0167600 30
  • 44.59 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 34 (a)
 ManyToMany
-- 31
  • 34 (a)
 ManyToMany
CSA.10130 31
  • 33 (a)
 ManyToMany
-- 31
  • 32 (a)
 ManyToMany
Species where no ortholog for FAR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for FAR2 Gene

ENSEMBL:
Gene Tree for FAR2 (if available)
TreeFam:
Gene Tree for FAR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAR2: view image

Paralogs for FAR2 Gene

Paralogs for FAR2 Gene

(1) SIMAP similar genes for FAR2 Gene using alignment to 6 proteins:

  • FACR2_HUMAN
  • F8VPF2_HUMAN
  • F8VV73_HUMAN
  • F8VX60_HUMAN
  • H0YHP1_HUMAN
  • H0YIE0_HUMAN

Pseudogenes.org Pseudogenes for FAR2 Gene

genes like me logo Genes that share paralogs with FAR2: view

Variants for FAR2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAR2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs146589456 Benign: not provided 29,332,635(+) G/A
NM_001271783.2(FAR2):c.1293G>A (p.Leu431=) 		SYNONYMOUS
rs181186551 Benign: not provided 29,311,020(+) C/T
NM_001271783.2(FAR2):c.769-8C>T 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAR2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FAR2 Gene

Variant ID Type Subtype PubMed ID
esv2762969 CNV loss 21179565
esv33168 CNV gain 17666407
esv33218 CNV gain 17666407
nsv1113470 CNV deletion 24896259
nsv437739 CNV loss 16327808
nsv477212 CNV novel sequence insertion 20440878
nsv819469 CNV gain 19587683
nsv951345 CNV duplication 24416366
nsv975465 CNV duplication 23825009

Variation tolerance for FAR2 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAR2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAR2 Gene

Disorders for FAR2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FAR2 Gene - From: COP

Disorder Aliases PubMed IDs
fanconi anemia, complementation group b
  • fancb
necatoriasis
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
zellweger syndrome
  • cerebrohepatorenal syndrome
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards
Search FAR2 in MalaCards View complete list of genes associated with diseases

Genatlas disease for FAR2 Gene

familial amyloidosis,renal,Ostertag type (lysozyme deposit)

Additional Disease Information for FAR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FAR2: view

No data available for UniProtKB/Swiss-Prot for FAR2 Gene

Publications for FAR2 Gene

  1. Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. (PMID: 15220348) Cheng JB … Russell DW (The Journal of biological chemistry 2004) 2 3 4
  2. Topogenesis and homeostasis of fatty acyl-CoA reductase 1. (PMID: 24108123) Honsho M … Fujiki Y (The Journal of biological chemistry 2013) 3 4
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3

ExternalLinks

View latest publications for FAR2 gene in Mastermind

Products for FAR2 Gene

Sources for FAR2 Gene