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FADS2 Gene

protein-coding   GIFtS: 67
GCID: GC11P061583

Fatty Acid Desaturase 2


(Previous symbol: LLCDL2)
  See FADS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fatty Acid Desaturase 21 2     FADSD62
LLCDL21 2     SLL02622
delta-6-desaturase1 2     TU132
Delta(6) Desaturase2 3     Delta-6 Fatty Acid Desaturase2
Delta(6) Fatty Acid Desaturase2 3     Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 22
Delta-6 Desaturase2 3     EC 1.14.19.-3
D6D2 3     EC 1.14.198
DES62     

External Ids:    HGNC: 35751   Entrez Gene: 94152   Ensembl: ENSG000001348247   OMIM: 6061495   UniProtKB: O958643   
ORGUL members:         

Export aliases for FADS2 gene to outside databases

Previous GC identifers: GC11P064097 GC11P063159 GC11P061834 GC11P061359 GC11P061340 GC11P061352 GC11P057923


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FADS2 Gene:
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)

GeneCards Summary for FADS2 Gene:
FADS2 (fatty acid desaturase 2) is a protein-coding gene. Diseases associated with FADS2 include paranoid schizophrenia, and vitelliform macular dystrophy. GO annotations related to this gene include stearoyl-CoA 9-desaturase activity and iron ion binding. An important paralog of this gene is FADS1.

UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864
Function: Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids
(HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and
alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the
desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid
(18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in
many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the
mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum

Gene Wiki entry for FADS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FADS2 gene promoter:
         CBF-C   E47   HEN1   Ik-2   CBF-A   CBF-B   CP1C   CP1A   ATF   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FADS2 promoter sequence
   Search Chromatin IP Primers for FADS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FADS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12.2

FADS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FADS2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P061583:  view genomic region     (about GC identifiers)

Start:
61,560,452 bp from pter      End:
61,634,826 bp from pter
Size:
74,375 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864 (See protein sequence)
Recommended Name: Fatty acid desaturase 2  
Size: 444 amino acids; 52259 Da
Developmental stage: Found in fetal heart
Secondary accessions: A8K2M6 Q6MZQ7 Q96H07 Q96SV8 Q9H3G3 Q9Y3X4
Alternative splicing: 3 isoforms:  O95864-1   O95864-2   O95864-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FADS2: NX_O95864

Explore proteomics data for FADS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys28, Lys42, Lys48, Lys84, Lys87, Lys108, Lys206, Lys223, Lys398, Lys404,
                                 Lys409, Lys417, Lys435
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FADS2 (O95864) (see all 18)
     EDFRALR  KDPDVNM  LWLDAYL  EDATDAF 


    See FADS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001268430.1  NP_001268431.1  NP_004256.1  

    ENSEMBL proteins: 
     ENSP00000458917   ENSP00000257261   ENSP00000428522   ENSP00000429500   ENSP00000429693  
     ENSP00000430054   ENSP00000278840   ENSP00000430225   ENSP00000431091   ENSP00000443867  
     ENSP00000437965  
    Reactome Protein details: O95864

    FADS2 Human Recombinant Protein Products:

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    Novus Biologicals FADS2 Proteins
    Novus Biologicals FADS2 Lysate
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    Cloud-Clone Corp. Proteins for FADS2

     
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    antibodies-online proteins for FADS2 (4 products) 

     
    antibodies-online peptides for FADS2

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    antibodies-online kits for FADS2 (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FADS: Fatty acid desaturases

    3 InterPro protein domains:
     IPR001199 Cyt_B5-like_heme/steroid-bd
     IPR005804 Fatty_acid_desaturase-1
     IPR012171 Fatty_acid/sphinglp_desaturase

    Graphical View of Domain Structure for InterPro Entry O95864

    ProtoNet protein and cluster: O95864

    1 Blocks protein domain: IPB001199 Cytochrome b5

    UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864
    Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding
    Similarity: Belongs to the fatty acid desaturase family
    Similarity: Contains 1 cytochrome b5 heme-binding domain


    Find genes that share domains with FADS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FADS2_HUMAN, O95864
    Function: Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids
    (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and
    alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the
    desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid
    (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in
    many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the
    mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum
    Induction: Repressed by dietary highly unsaturated fatty acids

         Enzyme Numbers (IUBMB): EC 1.14.19.-1 EC 1.14.192

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004768stearoyl-CoA 9-desaturase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016717oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ----
    GO:0020037heme binding IEA--
         
    Find genes that share ontologies with FADS2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FADS2:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fads2):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     renal/urinary system  reproductive system 

    Find genes that share phenotypes with FADS2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for FADS2: Fads2tm1Mtna Fads2tm1Wst

       genOway: Develop your customized and physiologically relevant rodent model for FADS2

    miRNA
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    miRTarBase miRNAs that target FADS2:
    hsa-mir-500a-3p (MIRT041155), hsa-mir-324-3p (MIRT042871), hsa-mir-335-5p (MIRT017360), hsa-let-7b-5p (MIRT001634), hsa-mir-423-3p (MIRT042511), hsa-mir-18a-3p (MIRT040802), hsa-mir-26b-5p (MIRT029144)

    Block miRNA regulation of human, mouse, rat FADS2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate FADS2:
    hsa-miR-877* hsa-miR-3163 hsa-miR-4271 hsa-miR-491-5p hsa-miR-2110 hsa-miR-589* hsa-miR-219-5p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidFADS2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FADS2
    Predesigned siRNA for gene silencing in human, mouse, rat FADS2

    Gene Editing
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13180) for FADS2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FADS2_HUMAN, O95864: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    peroxisome2
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral component of plasma membrane TAS9867867
    GO:0016020membrane TAS9867867

    Find genes that share ontologies with FADS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FADS2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    oleate biosynthesis II (animals)0.32
    2alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism0.00
    Linoleic acid (LA) metabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4stearate biosynthesis I (animals)
    gamma-linolenate biosynthesis II (animals)0.35
    eicosapentaenoate biosynthesis II (metazoa)0.00
    5Arachidonic acid metabolism
    alpha-Linolenic acid metabolism0.64


    Find genes that share SuperPaths with FADS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for FADS2
        oleate biosynthesis II (animals)
    gamma-linolenate biosynthesis II (animals)
    eicosapentaenoate biosynthesis II (metazoa)

    2 Reactome Pathways for FADS2
        Linoleic acid (LA) metabolism
    alpha-linolenic acid (ALA) metabolism


    4 Kegg Pathways  (Kegg details for FADS2):
        alpha-Linolenic acid metabolism
    Biosynthesis of unsaturated fatty acids
    Fatty acid metabolism
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864
    Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including FADS2: 

              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FADS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FADS2 (O958642, 3 ENSP000002788404) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACSL1ENSP000002814554STRING: ENSP00000281455
    ACSL3ENSP000003500124STRING: ENSP00000350012
    ACSL4ENSP000003397874STRING: ENSP00000339787
    JMJD7-PLA2G4BENSP000003718864STRING: ENSP00000371886
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006633fatty acid biosynthetic process ----
    GO:0006636unsaturated fatty acid biosynthetic process IEA--
    GO:0033559unsaturated fatty acid metabolic process TAS--
    GO:0036109alpha-linolenic acid metabolic process TAS--

    Find genes that share ontologies with FADS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FADS2

    3 HMDB Compounds for FADS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-Linolenic acid(9,12,15)-linolenate (see all 23)463-40-1--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Stearidonic acidStearidonic acid (see all 4)20290-75-9--

    1 DrugBank Compound for FADS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-Linolenic Acid(9Z,12Z,15Z)-Octadecatrienoic acid (see all 5)463-40-1targetligand17284757 16988497 12713571 21210105 17409318 15481543

    5 Novoseek inferred chemical compound relationships for FADS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parinaric acid 81.5 3 15481543 (1), 15966318 (1)
    fatty acid 72.6 23 12951357 (3), 19195843 (2), 20045144 (2), 11290821 (1) (see all 12)
    alpha-linolenic acid 71.8 10 15971598 (1), 12713571 (1), 15481543 (1), 18842780 (1) (see all 5)
    gamma-linolenic acid 69.8 4 15966318 (3), 15971598 (1)
    linoleic acid 69.5 12 18842780 (2), 15971598 (1), 12713571 (1), 18936223 (1) (see all 6)



    Find genes that share compounds with FADS2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FADS2 gene (3 alternative transcripts): 
    NM_001281501.1  NM_001281502.1  NM_004265.3  

    Unigene Cluster for FADS2:

    Fatty acid desaturase 2
    Hs.502745  [show with all ESTs]
    Unigene Representative Sequence: NM_004265
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000574708 ENST00000257261(uc001nsj.2 uc010rlo.1) ENST00000522639
    ENST00000522056 ENST00000517839 ENST00000518606 ENST00000278840(uc001nsl.1)
    ENST00000517312 ENST00000521849(uc001nsk.3) ENST00000521571 ENST00000520145
    ENST00000355484 ENST00000543584 ENST00000523235 ENST00000522359
    miRNA
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    hsa-miR-877* hsa-miR-3163 hsa-miR-4271 hsa-miR-491-5p hsa-miR-2110 hsa-miR-589* hsa-miR-219-5p hsa-miR-4282
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    Additional mRNA sequence: 

    AF084559.1 AF108658.1 AF126799.1 AK027459.1 AK027513.1 AK027577.1 AK074925.1 AK074939.1 
    AK074991.1 AK123240.1 AK290291.1 AK299762.1 AL050118.1 BC009011.1 

    Selected DOTS entries (see all 31):

    DT.100821496  DT.455705  DT.95113197  DT.100821494  DT.100836017  DT.120740171  DT.95094120  DT.120740049 
    DT.100821504  DT.120740019  DT.120739988  DT.92456403  DT.95094121  DT.120740037  DT.100821499  DT.100830160 
    DT.120740027  DT.92456410  DT.101968013  DT.101978227  DT.120739976  DT.120740069  DT.120740087  DT.87016735 

    Selected AceView cDNA sequences (see all 474):

    AI973282 BG697404 BQ229517 BX490187 BQ225144 AI214035 R62464 CR599697 
    AU102245 BC009011 AL559447 BM721174 BG697064 AI927559 AL530346 BG697390 
    BU156516 BG674790 BQ072020 BG032567 CA389354 BQ185105 AW297948 BM682881 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FADS2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
    SP1:                                      -     -         
    SP2:                                                      


    ECgene alternative splicing isoforms for FADS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FADS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACTTCCCC
    FADS2 Expression
    About this image


    FADS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Liver (Hepatobiliary System)
     
     Adrenal Gland (Endocrine System)
    FADS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FADS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502745

    UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864
    Tissue specificity: Expressed in a wide array of tissues, highest expression is found in liver followed by brain,
    lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels
    were found in patients with poor prognostic index

        Pathway & Disease-focused RT2 Profiler PCR Array including FADS2: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FADS2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fads21 , 5 fatty acid desaturase 21, 5 87.24(n)1
    87.61(a)1
      19 (6.36 cM)5
    564731  NM_019699.11  NP_062673.11 
     100641645 
    chicken
    (Gallus gallus)
    Aves FADS21 fatty acid desaturase 2 74.92(n)
    77.03(a)
      423122  NM_001160428.2  NP_001153900.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    73(a)
    1 → many
    GL343235.1(2092437-2125756)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687352 hypothetical protein MGC68735 79.02(n)    BC063726.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fads22 fatty acid desaturase 2 76.21(n)   140615  BC049438.1 
    worm
    (Caenorhabditis elegans)
    Secernentea fat-31 , 3 fat-31 28(a)3
    43.83(n)1
    33.82(a)1
      IV(9803240-9806176)3
    1778201  NM_001268497.11  NP_001255426.11 


    ENSEMBL Gene Tree for FADS2 (if available)
    TreeFam Gene Tree for FADS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FADS2 gene
    FADS12  FADS32  
    3 SIMAP similar genes for FADS2 using alignment to 9 protein entries:     FADS2_HUMAN (see all proteins):
    FADS1    FADS2P1    FADS3

    Find genes that share paralogs with FADS2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for FADS2
    PGOHUM00000258592


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FADS2 (see all 942)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1745681,2
    C,F,A,H--61593816(+) GTCCAC/TGCTTC 1 -- us2k123Minor allele frequency- A:0.01EA NA NS 2552
    rs1745691,2
    C,F,A,H--61594164(+) CAGTCT/CGTGGA 1 -- us2k17Minor allele frequency- C:0.04MN NA EA 499
    rs729201821,2
    --61594266(+) CCCCCA/CCAAGT 1 -- us2k10--------
    rs1459292481,2
    --61594306(+) CCCCAC/TCACCC 1 -- us2k10--------
    rs1399756531,2
    --61594510(+) TCCTCC/TAGTGA 1 -- us2k10--------
    rs785108851,2
    C,F--61594788(+) ACTGAG/CCTTAC 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs38344581,2
    C,F--61594921(+) TTTTCT/-AAGAT 1 -- us2k12Minor allele frequency- -:0.41MN EA 376
    rs1399135001,2
    --61595370(+) CGGGG-/CACCCG 1 -- us2k10--------
    rs9685671,2
    C,F,H--61595564(-) CCCGGG/AAGCTC 1 -- us2k114Minor allele frequency- A:0.09MN NS EA NA 1850
    rs1434313171,2
    --61595705(+) AGAAGG/TCTGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FADS2 (61560452 - 61634826 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FADS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670536CNV Deletion23128226
    nsv528697CNV Loss19592680
    nsv897613CNV Loss21882294
    nsv897614CNV Loss21882294
    nsv468585CNV Loss19166990

    Human Gene Mutation Database (HGMD): FADS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FADS2
    DNA2.0 Custom Variant and Variant Library Synthesis for FADS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606149    OMIM disorders: --

    2 diseases for FADS2:    
    About MalaCards
    paranoid schizophrenia    vitelliform macular dystrophy


    Find genes that share disorders with FADS2           About GenesLikeMe

    Genetic Association Database (GAD): FADS2
    Human Genome Epidemiology (HuGE) Navigator: FADS2 (40 documents)

    Export disorders for FADS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FADS2 gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with FADS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the delta-6 desaturase of human sebaceous glands: expression and enzyme activity. (PubMed id 12713571)1, 2, 7, 9 Ge L.... Prouty S.M. (J. Invest. Dermatol. 2003)
    2. alpha-Linolenic acid, Delta6-desaturase gene polymorphism, and the risk of nonfatal myocardial infarction. (PubMed id 17284757)1, 4, 7 Baylin A....Campos H. (Am. J. Clin. Nutr. 2007)
    3. Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism. (PubMed id 20045144)1, 4, 9 Glaser C....Koletzko B. (Metab. Clin. Exp. 2010)
    4. cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PubMed id 10860662)1, 2, 9 Marquardt A.... Weber B.H. (Genomics 2000)
    5. Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation. (PubMed id 18936223)1, 4, 9 Xie L. and Innis S.M. (J. Nutr. 2008)
    6. Genetically determined variation in polyunsaturated fatty acid metabolism may result in different dietary requirements. (PubMed id 18626191)1, 4, 9 Koletzko B....Heinrich J. (Nestle Nutr Workshop Ser Pediatr Program 2008)
    7. Association of fatty acid desaturase genes with attention-deficit/hyperactivity disorder. (PubMed id 16893529)1, 4, 9 Brookes K.J....Asherson P. (Biol. Psychiatry 2006)
    8. FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease. (PubMed id 18842780)1, 4, 9 Martinelli N....Olivieri O. (Am. J. Clin. Nutr. 2008)
    9. Genetic variants of the FADS1 FADS2 gene cluster as related to essential fatty acid metabolism. (PubMed id 19809313)1, 4, 9 Lattka E....Heinrich J. (Curr. Opin. Lipidol. 2010)
    10. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. (PubMed id 19148276)1, 4, 9 Tanaka T....Ferrucci L. (PLoS Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9415 HGNC: 3575 AceView: FADS2 Ensembl:ENSG00000134824 euGenes: HUgn9415
    ECgene: FADS2 Kegg: 9415 H-InvDB: FADS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FADS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FADS2 gene:
    Search GeneIP for patents involving FADS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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