LOCUS       NM_004265               3091 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens fatty acid desaturase 2 (FADS2), transcript variant 1,
            mRNA.
ACCESSION   NM_004265
VERSION     NM_004265.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3091)
  AUTHORS   Pavlova,N.I., Krylov,A.V., Bochurov,A.A., Alekseev,V.A. and
            Kurtanov,K.A.
  TITLE     High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase
            Genes in the Yakut Population
  JOURNAL   Genet Test Mol Biomarkers 28 (8), 305-310 (2024)
   PUBMED   38860387
  REMARK    GeneRIF: High Frequency of Ancestral Haplotype A of Fatty Acid
            Desaturase Genes in the Yakut Population.
REFERENCE   2  (bases 1 to 3091)
  AUTHORS   Lorito,N., Subbiani,A., Smiriglia,A., Bacci,M., Bonechi,F.,
            Tronci,L., Romano,E., Corrado,A., Longo,D.L., Iozzo,M.,
            Ippolito,L., Comito,G., Giannoni,E., Meattini,I., Avgustinova,A.,
            Chiarugi,P., Bachi,A. and Morandi,A.
  TITLE     FADS1/2 control lipid metabolism and ferroptosis susceptibility in
            triple-negative breast cancer
  JOURNAL   EMBO Mol Med 16 (7), 1533-1559 (2024)
   PUBMED   38926633
  REMARK    GeneRIF: FADS1/2 control lipid metabolism and ferroptosis
            susceptibility in triple-negative breast cancer.
REFERENCE   3  (bases 1 to 3091)
  AUTHORS   Ikeda,T., Katoh,Y., Hino,H., Seta,D., Ogawa,T., Iwata,T.,
            Nishio,H., Sugawara,M. and Hirai,S.
  TITLE     FADS2 confers SCD1 inhibition resistance to cancer cells by
            modulating the ER stress response
  JOURNAL   Sci Rep 14 (1), 13116 (2024)
   PUBMED   38849435
  REMARK    GeneRIF: FADS2 confers SCD1 inhibition resistance to cancer cells
            by modulating the ER stress response.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3091)
  AUTHORS   Miklavcic,J.J., Paterson,N., Hahn-Holbrook,J. and Glynn,L.
  TITLE     Impact of FADS genotype on polyunsaturated fatty acid content in
            human milk extracellular vesicles: A genetic association study
  JOURNAL   JPEN J Parenter Enteral Nutr 48 (4), 479-485 (2024)
   PUBMED   38566550
  REMARK    GeneRIF: Impact of FADS genotype on polyunsaturated fatty acid
            content in human milk extracellular vesicles: A genetic association
            study.
REFERENCE   5  (bases 1 to 3091)
  AUTHORS   Wu,X., Jiang,L., Qi,H., Hu,C., Jia,X., Lin,H., Wang,S., Lin,L.,
            Zhang,Y., Zheng,R., Li,M., Wang,T., Zhao,Z., Xu,M., Xu,Y., Chen,Y.,
            Zheng,J., Bi,Y. and Lu,J.
  TITLE     Brain tissue- and cell type-specific eQTL Mendelian randomization
            reveals efficacy of FADS1 and FADS2 on cognitive function
  JOURNAL   Transl Psychiatry 14 (1), 77 (2024)
   PUBMED   38316767
  REMARK    GeneRIF: Brain tissue- and cell type-specific eQTL Mendelian
            randomization reveals efficacy of FADS1 and FADS2 on cognitive
            function.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3091)
  AUTHORS   Tang,C., Cho,H.P., Nakamura,M.T. and Clarke,S.D.
  TITLE     Regulation of human delta-6 desaturase gene transcription:
            identification of a functional direct repeat-1 element
  JOURNAL   J Lipid Res 44 (4), 686-695 (2003)
   PUBMED   12562861
  REMARK    GeneRIF: data indicate that the 5'-flanking region of the human D6D
            gene contains a DR-1 that functions in the regulation of human D6D
            gene transcription, and thereby plays a role in the synthesis of
            20- and 22-carbon polyenoic fatty acids
REFERENCE   7  (bases 1 to 3091)
  AUTHORS   Nara,T.Y., He,W.S., Tang,C., Clarke,S.D. and Nakamura,M.T.
  TITLE     The E-box like sterol regulatory element mediates the suppression
            of human Delta-6 desaturase gene by highly unsaturated fatty acids
  JOURNAL   Biochem Biophys Res Commun 296 (1), 111-117 (2002)
   PUBMED   12147235
  REMARK    GeneRIF: meication of suppression by highly unsaturated fatty acids
            mediated by E-box like sterol regulatory element
REFERENCE   8  (bases 1 to 3091)
  AUTHORS   Marquardt,A., Stohr,H., White,K. and Weber,B.H.
  TITLE     cDNA cloning, genomic structure, and chromosomal localization of
            three members of the human fatty acid desaturase family
  JOURNAL   Genomics 66 (2), 175-183 (2000)
   PUBMED   10860662
REFERENCE   9  (bases 1 to 3091)
  AUTHORS   Cho,H.P., Nakamura,M.T. and Clarke,S.D.
  TITLE     Cloning, expression, and nutritional regulation of the mammalian
            Delta-6 desaturase
  JOURNAL   J Biol Chem 274 (1), 471-477 (1999)
   PUBMED   9867867
REFERENCE   10 (bases 1 to 3091)
  AUTHORS   Stohr,H., Marquardt,A., Rivera,A., Cooper,P.R., Nowak,N.J.,
            Shows,T.B., Gerhard,D.S. and Weber,B.H.
  TITLE     A gene map of the Best's vitelliform macular dystrophy region in
            chromosome 11q12-q13.1
  JOURNAL   Genome Res 8 (1), 48-56 (1998)
   PUBMED   9445487
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF084559.1 and AA665550.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004265.3.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.164184.1, AF084559.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278840.9/ ENSP00000278840.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3090              AF084559.1         60-3149
            3091-3091           AA665550.1         9-9                 c
FEATURES             Location/Qualifiers
     source          1..3091
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..3091
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /note="fatty acid desaturase 2"
                     /db_xref="GeneID:9415"
                     /db_xref="HGNC:HGNC:3575"
                     /db_xref="MIM:606149"
     exon            1..298
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1426
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /EC_number="1.14.19.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     delta-6 fatty acid desaturase; linoleoyl-CoA desaturase
                     (delta-6-desaturase)-like 2; acyl-CoA 6-desaturase"
                     /codon_start=1
                     /product="acyl-CoA 6-desaturase isoform 1"
                     /protein_id="NP_004256.1"
                     /db_xref="CCDS:CCDS8012.1"
                     /db_xref="GeneID:9415"
                     /db_xref="HGNC:HGNC:3575"
                     /db_xref="MIM:606149"
                     /translation="MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVY
                     NITKWSIQHPGGQRVIGHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQD
                     HGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIP
                     TLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHF
                     QHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIP
                     MYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWF
                     VWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMP
                     RHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK"
     exon            299..409
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            410..607
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            608..709
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            710..835
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            836..896
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            897..973
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1071
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1168
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1248
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1374
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..3091
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3067..3072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /note="hexamer: AATAAA"
     polyA_site      3091
                     /gene="FADS2"
                     /gene_synonym="D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13"
                     /note="major polyA site"
ORIGIN      
        1 tgcacacacc ggctgggagg cagccgtctg tgcagcgagc agccggcgcg gggaggccgc
       61 agtgcacggg gcgtcacagt cggcaggcag catggggaag ggagggaacc agggcgaggg
      121 ggccgccgag cgcgaggtgt cggtgcccac cttcagctgg gaggagattc agaagcataa
      181 cctgcgcacc gacaggtggc tggtcattga ccgcaaggtt tacaacatca ccaaatggtc
      241 catccagcac ccggggggcc agcgggtcat cgggcactac gctggagaag atgcaacgga
      301 tgccttccgc gccttccacc ctgacctgga attcgtgggc aagttcttga aacccctgct
      361 gattggtgaa ctggccccgg aggagcccag ccaggaccac ggcaagaact caaagatcac
      421 tgaggacttc cgggccctga ggaagacggc tgaggacatg aacctgttca agaccaacca
      481 cgtgttcttc ctcctcctcc tggcccacat catcgccctg gagagcattg catggttcac
      541 tgtcttttac tttggcaatg gctggattcc taccctcatc acggcctttg tccttgctac
      601 ctctcaggcc caagctggat ggctgcaaca tgattatggc cacctgtctg tctacagaaa
      661 acccaagtgg aaccaccttg tccacaaatt cgtcattggc cacttaaagg gtgcctctgc
      721 caactggtgg aatcatcgcc acttccagca ccacgccaag cctaacatct tccacaagga
      781 tcccgatgtg aacatgctgc acgtgtttgt tctgggcgaa tggcagccca tcgagtacgg
      841 caagaagaag ctgaaatacc tgccctacaa tcaccagcac gaatacttct tcctgattgg
      901 gccgccgctg ctcatcccca tgtatttcca gtaccagatc atcatgacca tgatcgtcca
      961 taagaactgg gtggacctgg cctgggccgt cagctactac atccggttct tcatcaccta
     1021 catccctttc tacggcatcc tgggagccct ccttttcctc aacttcatca ggttcctgga
     1081 gagccactgg tttgtgtggg tcacacagat gaatcacatc gtcatggaga ttgaccagga
     1141 ggcctaccgt gactggttca gtagccagct gacagccacc tgcaacgtgg agcagtcctt
     1201 cttcaacgac tggttcagtg gacaccttaa cttccagatt gagcaccacc tcttccccac
     1261 catgccccgg cacaacttac acaagatcgc cccgctggtg aagtctctat gtgccaagca
     1321 tggcattgaa taccaggaga agccgctact gagggccctg ctggacatca tcaggtccct
     1381 gaagaagtct gggaagctgt ggctggacgc ctaccttcac aaatgaagcc acagcccccg
     1441 ggacaccgtg gggaaggggt gcaggtgggg tgatggccag aggaatgatg ggcttttgtt
     1501 ctgaggggtg tccgagaggc tggtgtatgc actgctcacg gaccccatgt tggatctttc
     1561 tccctttctc ctctcctttt tctcttcaca tctcccccat agcaccctgc cctcatggga
     1621 cctgccctcc ctcagccgtc agccatcagc catggccctc ccagtgcctc ctagcccctt
     1681 cttccaagga gcagagaggt ggccaccggg ggtggctctg tcctacctcc actctctgcc
     1741 cctaaagatg ggaggagacc agcggtccat gggtctggcc tgtgagtctc cccttgcagc
     1801 ctggtcacta ggcatcaccc ccgctttggt tcttcagatg ctcttggggt tcataggggc
     1861 aggtcctagt cgggcagggc ccctgaccct cccggcctgg cttcactctc cctgacggct
     1921 gccattggtc caccctttca tagagaggcc tgctttgtta caaagctcgg gtctccctcc
     1981 tgcagctcgg ttaagtaccc gaggcctctc ttaagatgtc cagggcccca ggcccgcggg
     2041 cacagccagc ccaaaccttg ggccctggaa gagtcctcca ccccatcact agagtgctct
     2101 gaccctgggc tttcacgggc cccattccac cgcctcccca acttgagcct gtgaccttgg
     2161 gaccaaaggg ggagtccctc gtctcttgtg actcagcaga ggcagtggcc acgttcaggg
     2221 aggggccggc tggcctggag gctcagccca ccctccagct tttcctcagg gtgtcctgag
     2281 gtccaagatt ctggagcaat ctgacccttc tccaaaggct ctgttatcag ctgggcagtg
     2341 ccagccaatc cctggccatt tggccccagg ggacgtgggc cctgcaggct gcaggagggc
     2401 actggagctg ggaggtctcg tcccagccct ccccatctcg gggctgctgt gtggacggcg
     2461 ctgcctcagg cactctcctg tctgaacctg cccttactgt gtttaacctg ttgctccagg
     2521 atgcattctg ataggagggg gcggcagggc tgggccttgt gacaatctgc ctttcaccac
     2581 atggccttgc ctcggtggcc ctgactgtca gggagggcca gggaggcaga gcgggaggga
     2641 gtctcaggag gaggctgccc tgaggggctg gggagggggt acctcatgag gaccagggtg
     2701 gagctgagaa gaggaggagg tgggggctgg aggtgctggt agctgagggg acgggcaagt
     2761 gagaggggag ggagggaagt cctgggagga tcctgagctg ctgttgcagt ctaacccact
     2821 aatcagttct tagattcagg ggaagggcag gcaccaacaa ctcagaatgg gggctttcgg
     2881 ggagggcgcc tagtcccccc agctctaagc agccaggagg gacctgcatc taagcatctg
     2941 ggttgccatg gcaatggcat gccccccagc tactgtatgc ccccgacccc cgcagaggca
     3001 gaatgaaccc atagggagct gatcgtaatg tttatcatgt tacttcccca cccctacatt
     3061 ttttgaaata aaataaggaa ttttattctc a
//
