LOCUS       NM_014182               2019 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens ORMDL sphingolipid biosynthesis regulator 2 (ORMDL2),
            mRNA.
ACCESSION   NM_014182
VERSION     NM_014182.5
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 2019)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2019)
  AUTHORS   Siow,D., Sunkara,M., Dunn,T.M., Morris,A.J. and Wattenberg,B.
  TITLE     ORMDL/serine palmitoyltransferase stoichiometry determines effects
            of ORMDL3 expression on sphingolipid biosynthesis
  JOURNAL   J Lipid Res 56 (4), 898-908 (2015)
   PUBMED   25691431
REFERENCE   3  (bases 1 to 2019)
  AUTHORS   Gupta,S.D., Gable,K., Alexaki,A., Chandris,P., Proia,R.L.,
            Dunn,T.M. and Harmon,J.M.
  TITLE     Expression of the ORMDLS, modulators of serine
            palmitoyltransferase, is regulated by sphingolipids in mammalian
            cells
  JOURNAL   J Biol Chem 290 (1), 90-98 (2015)
   PUBMED   25395622
  REMARK    GeneRIF: Expression of the ORMDLS, modulators of serine
            palmitoyltransferase, is regulated by sphingolipids in mammalian
            cells.
REFERENCE   4  (bases 1 to 2019)
  AUTHORS   Siow,D.L. and Wattenberg,B.W.
  TITLE     Mammalian ORMDL proteins mediate the feedback response in ceramide
            biosynthesis
  JOURNAL   J Biol Chem 287 (48), 40198-40204 (2012)
   PUBMED   23066021
  REMARK    GeneRIF: ORMDL1, ORMDL2 and ORMDL3 mediate the feedback response in
            ceramide biosynthesis.
REFERENCE   5  (bases 1 to 2019)
  AUTHORS   Breslow,D.K., Collins,S.R., Bodenmiller,B., Aebersold,R.,
            Simons,K., Shevchenko,A., Ejsing,C.S. and Weissman,J.S.
  TITLE     Orm family proteins mediate sphingolipid homeostasis
  JOURNAL   Nature 463 (7284), 1048-1053 (2010)
   PUBMED   20182505
REFERENCE   6  (bases 1 to 2019)
  AUTHORS   Hjelmqvist,L., Tuson,M., Marfany,G., Herrero,E., Balcells,S. and
            Gonzalez-Duarte,R.
  TITLE     ORMDL proteins are a conserved new family of endoplasmic reticulum
            membrane proteins
  JOURNAL   Genome Biol 3 (6), RESEARCH0027 (2002)
   PUBMED   12093374
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF395707.1, AK223180.1, BC012543.2, BG750383.1, AW339474.1 and
            AC023055.40.
            
            On Nov 22, 2018 this sequence version replaced NM_014182.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.174497.1,
                                           SRR1660807.106364.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243045.10/ ENSP00000243045.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                AF395707.1         117-160
            45-95               AK223180.1         5-55
            96-312              BC012543.2         25-241
            313-996             AK223180.1         273-956
            997-1070            BG750383.1         679-752
            1071-1313           BC012543.2         1000-1242
            1314-1314           AW339474.1         195-195
            1315-1315           BC012543.2         1244-1244
            1316-2019           AC023055.40        33322-34025
FEATURES             Location/Qualifiers
     source          1..2019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..2019
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="ORMDL sphingolipid biosynthesis regulator 2"
                     /db_xref="GeneID:29095"
                     /db_xref="HGNC:HGNC:16037"
                     /db_xref="MIM:610074"
     exon            1..72
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /inference="alignment:Splign:2.1.0"
     exon            73..247
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..535
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="expressed in normal aorta"
                     /codon_start=1
                     /product="ORM1-like protein 2"
                     /protein_id="NP_054901.1"
                     /db_xref="CCDS:CCDS8893.1"
                     /db_xref="GeneID:29095"
                     /db_xref="HGNC:HGNC:16037"
                     /db_xref="MIM:610074"
                     /translation="MNVGVAHSEVNPNTRVMNSRGIWLAYIILVGLLHMVLLSIPFFS
                     IPVVWTLTNVIHNLATYVFLHTVKGTPFETPDQGKARLLTHWEQMDYGLQFTSSRKFL
                     SISPIVLYLLASFYTKYDAAHFLINTASLLSVLLPKLPQFHGVRVFGINKY"
     exon            248..399
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /inference="alignment:Splign:2.1.0"
     exon            400..2019
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /inference="alignment:Splign:2.1.0"
     regulatory      591..596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="hexamer: TATAAA"
     polyA_site      617
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="major polyA site"
     regulatory      814..819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="hexamer: ATTACA"
     polyA_site      852
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
     regulatory      977..982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="hexamer: TATAAA"
     polyA_site      1001
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
     polyA_site      1162
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
     regulatory      1208..1213
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="hexamer: AATACA"
     polyA_site      1228
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
     regulatory      1829..1834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="hexamer: AATACA"
     polyA_site      1854
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
     regulatory      2000..2005
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
                     /note="hexamer: AATAAA"
     polyA_site      2019
                     /gene="ORMDL2"
                     /gene_synonym="adoplin-2; HSPC160; MST095; MSTP095"
ORIGIN      
        1 gttacttcct ggagacttca ggtgtggtag ccggcgccgc gcccatagcc ggacggggat
       61 ctgagctggc aggatgaatg tgggggtggc acacagcgaa gtaaacccca acacccgagt
      121 gatgaatagc cgaggcatct ggctggccta catcatcttg gtaggattgc tgcatatggt
      181 tctactcagc atccccttct tcagcattcc tgttgtctgg accctgacca acgtcatcca
      241 taacctggct acgtatgtct tccttcatac ggtgaaaggg acaccctttg agactcctga
      301 ccaaggaaag gctcggctac tgacacactg ggagcaaatg gactatgggc tccagtttac
      361 ctcttcccgc aagttcctca gcatctctcc tattgtgctc tatctcctgg ccagcttcta
      421 taccaagtat gatgctgcgc acttcctcat caacacagcc tcattgctaa gtgtactgct
      481 gccgaagttg ccccagttcc atggggttcg tgtctttggc atcaacaaat actgagggat
      541 gggttttggg acagctccat gggcatgggg aaggcactga aacagaggac tataaaacat
      601 ccttctctta ttctccatac tgtcttctac acctttaaag cctgagaact atacaacctt
      661 tcccagactc ccaagaagag aagagattgg caaatggggc tcctgggccc agtcctgcta
      721 gtggcaagtt tctttgaatc aggaaggcag gtgaggtaag ggccaaatca ctctcctcca
      781 tagcaggaag ccatttgggc agcttctttg gtgattacat ctttccatat cttttacact
      841 taccaccttc cagctctgtt ttgctgtgta tttttcttac aataattttt ttcagctata
      901 gctgcagttt aatcaggatg ggtagagagc tgtcctcata aggctggggg tgggaagatg
      961 gaatactgac ctaatgtata aaacttaaaa caattctcca atcccctctc ctttggtcca
     1021 gtaggaggtg cccttcactc taagcttaac acttagtagg gaagagattc tcaaatgaga
     1081 aaaagggctc cggctatatg ggcaacaaag agggaagata caggttgcca gttatacatt
     1141 tatagaaaga taatcccctg gctttaaata gtcatgtaca tacaaatatg aacaaactta
     1201 aaaaaaaaat acaaaccctt ggatcacatg ggggcttctg ggaacccccg tattcttccc
     1261 cctcacccaa gggcagtggg catgaatcta ctttttaaaa atgattaatt ttggccatcc
     1321 ttgcagaaaa gagcctaaaa ttgggtgatt tacccacaaa gtgaaagtcg agggaaaatt
     1381 cagtttccag tctctgaact ctatgcgata atctcctatc attagggcta catgctttct
     1441 tgttctcttt taaatattat atcaggataa aggagagggc tccctcctga aatgggtcaa
     1501 gaaagaagat agacttgtag ctttaaaagg gtgggaaaaa gtgtcatctg ccctaaaagc
     1561 aaatgacaag acaaaggcat acagacccca gggaaatacc cagttcccac acctaaaggg
     1621 atacactgtc cagcccaggt ccaggcccta ggttctttac tctagctacc ccctatttct
     1681 ttggtattgt caaaagacaa gattcaggcc gggcacagtg gcttatgcct gtaatccagc
     1741 actttgggag gccaagacgg gtggatcacc tgagctcagg agttcgagac cagcctgggc
     1801 aacatggtga aaccccgtct ctactaaaaa tacaaaaaag aattagctgg gccaggtgtg
     1861 gtggtgtgtg cctgtaatcc cagctactca ggaggctgag atgggagaat tgcttgaacc
     1921 cgggagacag aggttgcagt aagctgagat cacaccactg cactccagct gggcaacaga
     1981 gcaagactcc atctcaaaaa ataaaaagaa aaagattca
//
