LOCUS       NM_001001524            1518 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.
ACCESSION   NM_001001524 XM_496297
VERSION     NM_001001524.3
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 1518)
  AUTHORS   Lahnsteiner,A., Ellmer,V., Oberlercher,A., Liutkeviciute,Z.,
            Schonauer,E., Paulweber,B., Aigner,E. and Risch,A.
  TITLE     G-quadruplex forming regions in GCK and TM6SF2 are targets for
            differential DNA methylation in metabolic disease and
            hepatocellular carcinoma patients
  JOURNAL   Sci Rep 14 (1), 20215 (2024)
   PUBMED   39215018
  REMARK    GeneRIF: G-quadruplex forming regions in GCK and TM6SF2 are targets
            for differential DNA methylation in metabolic disease and
            hepatocellular carcinoma patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1518)
  AUTHORS   Rendel,M.D., Vitali,C., Creasy,K.T., Zhang,D., Scorletti,E.,
            Huang,H., Seeling,K.S., Park,J., Hehl,L., Vell,M.S., Conlon,D.,
            Hayat,S., Phillips,M.C., Schneider,K.M., Rader,D.J. and
            Schneider,C.V.
  CONSRTM   Regeneron Center
  TITLE     The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function
            and is associated with protection against MASLD
  JOURNAL   Med 5 (8), 963-980 (2024)
   PUBMED   38776916
  REMARK    GeneRIF: The common p.Ile291Val variant of ERLIN1 enhances TM6SF2
            function and is associated with protection against MASLD.
REFERENCE   3  (bases 1 to 1518)
  AUTHORS   Liu,J., Ginsberg,H.N. and Reyes-Soffer,G.
  TITLE     Basic and translational evidence supporting the role of TM6SF2 in
            VLDL metabolism
  JOURNAL   Curr Opin Lipidol 35 (3), 157-161 (2024)
   PUBMED   38465912
  REMARK    GeneRIF: Basic and translational evidence supporting the role of
            TM6SF2 in VLDL metabolism.
            Review article
REFERENCE   4  (bases 1 to 1518)
  AUTHORS   Shankarappa,B., Mahadevan,J., Murthy,P., Purushottam,M.,
            Viswanath,B., Jain,S., Devarbhavi,H. and Mysore,V. A.
  TITLE     A study of genetic variants, genetic risk score and DNA methylation
            of PNPLA3 and TM6SF2 in alcohol liver cirrhosis
  JOURNAL   Indian J Gastroenterol 42 (6), 800-807 (2023)
   PUBMED   37589914
  REMARK    GeneRIF: A study of genetic variants, genetic risk score and DNA
            methylation of PNPLA3 and TM6SF2 in alcohol liver cirrhosis.
REFERENCE   5  (bases 1 to 1518)
  AUTHORS   Bodis,K., Bombrich,M., Schon,M., Knebel,B., Zaharia,O.P.,
            Bonhof,G., Karusheva,Y., Strassburger,K., Kupriyanova,Y.,
            Kotzka,J., Guthoff,R., Schrauwen-Hinderling,V., Al-Hasani,H.,
            Burkart,V., Szendroedi,J., Wagner,R., Markgraf,D.F. and Roden,M.
  CONSRTM   GDS study group
  TITLE     Effects of TM6SF2 rs58542926 polymorphism on hepatocellular lipids
            and insulin resistance in early type 2 diabetes
  JOURNAL   Nutr Metab Cardiovasc Dis 33 (9), 1785-1796 (2023)
   PUBMED   37495452
  REMARK    GeneRIF: Effects of TM6SF2 rs58542926 polymorphism on
            hepatocellular lipids and insulin resistance in early type 2
            diabetes.
REFERENCE   6  (bases 1 to 1518)
  AUTHORS   Holmen,O.L., Zhang,H., Fan,Y., Hovelson,D.H., Schmidt,E.M.,
            Zhou,W., Guo,Y., Zhang,J., Langhammer,A., Lochen,M.L., Ganesh,S.K.,
            Vatten,L., Skorpen,F., Dalen,H., Zhang,J., Pennathur,S., Chen,J.,
            Platou,C., Mathiesen,E.B., Wilsgaard,T., Njolstad,I., Boehnke,M.,
            Chen,Y.E., Abecasis,G.R., Hveem,K. and Willer,C.J.
  TITLE     Systematic evaluation of coding variation identifies a candidate
            causal variant in TM6SF2 influencing total cholesterol and
            myocardial infarction risk
  JOURNAL   Nat Genet 46 (4), 345-351 (2014)
   PUBMED   24633158
  REMARK    GeneRIF: TM6SF2 variant (Glu167Lys) influences total cholesterol
            levels and is associated with myocardial infarction.
REFERENCE   7  (bases 1 to 1518)
  AUTHORS   Kozlitina,J., Smagris,E., Stender,S., Nordestgaard,B.G., Zhou,H.H.,
            Tybjaerg-Hansen,A., Vogt,T.F., Hobbs,H.H. and Cohen,J.C.
  TITLE     Exome-wide association study identifies a TM6SF2 variant that
            confers susceptibility to nonalcoholic fatty liver disease
  JOURNAL   Nat Genet 46 (4), 352-356 (2014)
   PUBMED   24531328
  REMARK    GeneRIF: TM6SF2 activity is required for normal very-low-density
            lipoprotein secretion; impaired TM6SF2 function causally
            contributes to Nonalcoholic fatty liver disease.
REFERENCE   8  (bases 1 to 1518)
  AUTHORS   Ripke,S., O'Dushlaine,C., Chambert,K., Moran,J.L., Kahler,A.K.,
            Akterin,S., Bergen,S.E., Collins,A.L., Crowley,J.J., Fromer,M.,
            Kim,Y., Lee,S.H., Magnusson,P.K., Sanchez,N., Stahl,E.A.,
            Williams,S., Wray,N.R., Xia,K., Bettella,F., Borglum,A.D.,
            Bulik-Sullivan,B.K., Cormican,P., Craddock,N., de Leeuw,C.,
            Durmishi,N., Gill,M., Golimbet,V., Hamshere,M.L., Holmans,P.,
            Hougaard,D.M., Kendler,K.S., Lin,K., Morris,D.W., Mors,O.,
            Mortensen,P.B., Neale,B.M., O'Neill,F.A., Owen,M.J.,
            Milovancevic,M.P., Posthuma,D., Powell,J., Richards,A.L.,
            Riley,B.P., Ruderfer,D., Rujescu,D., Sigurdsson,E., Silagadze,T.,
            Smit,A.B., Stefansson,H., Steinberg,S., Suvisaari,J., Tosato,S.,
            Verhage,M., Walters,J.T., Levinson,D.F., Gejman,P.V., Kendler,K.S.,
            Laurent,C., Mowry,B.J., O'Donovan,M.C., Owen,M.J., Pulver,A.E.,
            Riley,B.P., Schwab,S.G., Wildenauer,D.B., Dudbridge,F., Holmans,P.,
            Shi,J., Albus,M., Alexander,M., Campion,D., Cohen,D., Dikeos,D.,
            Duan,J., Eichhammer,P., Godard,S., Hansen,M., Lerer,F.B.,
            Liang,K.Y., Maier,W., Mallet,J., Nertney,D.A., Nestadt,G.,
            Norton,N., O'Neill,F.A., Papadimitriou,G.N., Ribble,R.,
            Sanders,A.R., Silverman,J.M., Walsh,D., Williams,N.M., Wormley,B.,
            Arranz,M.J., Bakker,S., Bender,S., Bramon,E., Collier,D.,
            Crespo-Facorro,B., Hall,J., Iyegbe,C., Jablensky,A., Kahn,R.S.,
            Kalaydjieva,L., Lawrie,S., Lewis,C.M., Lin,K., Linszen,D.H.,
            Mata,I., McIntosh,A., Murray,R.M., Ophoff,R.A., Powell,J.,
            Rujescu,D., Van Os,J., Walshe,M., Weisbrod,M., Wiersma,D.,
            Donnelly,P., Barroso,I., Blackwell,J.M., Bramon,E., Brown,M.A.,
            Casas,J.P., Corvin,A.P., Deloukas,P., Duncanson,A., Jankowski,J.,
            Markus,H.S., Mathew,C.G., Palmer,C.N., Plomin,R., Rautanen,A.,
            Sawcer,S.J., Trembath,R.C., Viswanathan,A.C., Wood,N.W.,
            Spencer,C.C., Band,G., Bellenguez,C., Freeman,C., Hellenthal,G.,
            Giannoulatou,E., Pirinen,M., Pearson,R.D., Strange,A., Su,Z.,
            Vukcevic,D., Donnelly,P., Langford,C., Hunt,S.E., Edkins,S.,
            Gwilliam,R., Blackburn,H., Bumpstead,S.J., Dronov,S., Gillman,M.,
            Gray,E., Hammond,N., Jayakumar,A., McCann,O.T., Liddle,J.,
            Potter,S.C., Ravindrarajah,R., Ricketts,M.,
            Tashakkori-Ghanbaria,A., Waller,M.J., Weston,P., Widaa,S.,
            Whittaker,P., Barroso,I., Deloukas,P., Mathew,C.G., Blackwell,J.M.,
            Brown,M.A., Corvin,A.P., McCarthy,M.I., Spencer,C.C., Bramon,E.,
            Corvin,A.P., O'Donovan,M.C., Stefansson,K., Scolnick,E.,
            Purcell,S., McCarroll,S.A., Sklar,P., Hultman,C.M. and
            Sullivan,P.F.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   9  (bases 1 to 1518)
  AUTHORS   Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
            Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
            Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
            Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
            Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
            Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
            Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
            Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
            Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
            Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
            Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
            Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
            Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
            Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
            Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
            Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
            Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
            Myers,R.M., Rubin,E.M. and Lucas,S.M.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   10 (bases 1 to 1518)
  AUTHORS   Carim-Todd,L., Escarceller,M., Estivill,X. and Sumoy,L.
  TITLE     Cloning of the novel gene TM6SF1 reveals conservation of clusters
            of paralogous genes between human chromosomes 15q24-->q26 and
            19p13.3-->p12
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 255-260 (2000)
   PUBMED   11124529
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003967.2, DA930032.1, AF255923.1 and AK097070.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001001524.2.
            
            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 :: SRR11853562.17504.1,
                                           SRR14038197.176530.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389363.5/ ENSP00000374014.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AC003967.2         18545-18580         c
            37-87               DA930032.1         1-51
            88-1059             AF255923.1         1-972
            1060-1518           AK097070.1         1370-1828
FEATURES             Location/Qualifiers
     source          1..1518
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1518
                     /gene="TM6SF2"
                     /note="transmembrane 6 superfamily member 2"
                     /db_xref="GeneID:53345"
                     /db_xref="HGNC:HGNC:11861"
                     /db_xref="MIM:606563"
     exon            1..181
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1220
                     /gene="TM6SF2"
                     /codon_start=1
                     /product="transmembrane 6 superfamily member 2"
                     /protein_id="NP_001001524.2"
                     /db_xref="CCDS:CCDS42528.1"
                     /db_xref="GeneID:53345"
                     /db_xref="HGNC:HGNC:11861"
                     /db_xref="MIM:606563"
                     /translation="MDIPPLAGKIAALSLSALPVSYALNHVSALSHPLWVALMSALIL
                     GLLFVAVYSLSHGEVSYDPLYAVFAVFAFTSVVDLIIALQEDSYVVGFMEFYTKEGEP
                     YLRTAHGVFICYWDGTVHYLLYLAMAGAICRRKRYRNFGLYWLGSFAMSILVFLTGNI
                     LGKYSSEIRPAFFLTIPYLLVPCWAGMKVFSQPRALTRCTANMVQEEQRKGLLQRPAD
                     LALVIYLILAGFFTLFRGLVVLDCPTDACFVYIYQYEPYLRDPVAYPKVQMLMYMFYV
                     LPFCGLAAYALTFPGCSWLPDWALVFAGGIGQAQFSHMGASMHLRTPFTYRVPEDTWG
                     CFFVCNLLYALGPHLLAYRCLQWPAFFHQPPPSDPLALHKKQH"
     exon            182..285
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            286..383
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            384..487
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            488..570
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            571..695
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            696..797
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            798..890
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1010
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1518
                     /gene="TM6SF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1493..1498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TM6SF2"
                     /note="hexamer: AGTAAA"
     polyA_site      1518
                     /gene="TM6SF2"
                     /note="major polyA site"
ORIGIN      
        1 agcctcggcc cggactcgcc gccaacgagg agccgagcgc cctggagaac gcgtcggggc
       61 tgagccgggg tccagcagcc gccgctatgg acatcccgcc gctggccggc aagatcgcgg
      121 cgctgtcgct gagcgccctc ccggtgtcct acgcgctcaa ccacgtctcg gcgctctcgc
      181 accccctgtg ggtggcattg atgagcgccc taatcctggg tctgcttttc gtggcggtct
      241 acagcttgtc ccatggcgag gtctcctatg acccactcta tgctgtcttc gctgtcttcg
      301 ccttcacctc ggttgtggac ctcatcatcg ctcttcagga agacagctat gtggtgggct
      361 tcatggagtt ctacaccaag gagggagagc catacctgcg cacagcgcac ggagtcttca
      421 tctgctactg ggatggcact gttcactacc tcctctacct ggccatggcc ggcgccatct
      481 gcagaaggaa gagataccgg aattttggac tctactggct gggttccttc gccatgagca
      541 tcctggtgtt ccttacagga aacattcttg gcaaatacag ctccgagatc aggcctgcct
      601 tcttcctcac catcccctac ctgctggtgc catgctgggc tggcatgaag gtcttcagcc
      661 agccccgggc gctaacccgc tgcaccgcca acatggtgca agaggaacaa agaaagggac
      721 tcctgcagcg tccggctgac ctggcccttg tcatatatct catccttgct ggcttcttca
      781 ctctgttccg gggcctggtg gtgcttgatt gccccacaga tgcctgcttt gtctatatct
      841 accagtatga gccatacctg cgggaccctg tggcctaccc taaggtgcag atgctgatgt
      901 acatgtttta tgtcctgcct ttctgcggcc tggctgccta tgctctcacc ttccctggtt
      961 gctcctggct tccagactgg gccttggtgt ttgctggagg catcggccag gcacagttct
     1021 cgcacatggg ggcttccatg cacctgcgca cacccttcac ctaccgtgtg cctgaggaca
     1081 cctggggctg cttcttcgtg tgcaatctgc tgtatgcgct gggcccccac ctgctggcct
     1141 accgttgcct tcagtggccc gcattcttcc accagccacc accctccgac cccctagccc
     1201 tccacaagaa gcagcattga gagagctgtg gactcaggac ccaggactct gtttacgtgc
     1261 ccagtcagcc ctacctgggg aagcgggggt tgggtgtttt agagacagga gggacatctc
     1321 cgggtgtctt tagtcttggc tatggtagtt tcagtccagt gggtgggatg gagaccaacg
     1381 accaagtgtt cctgcaagga gagcctccca cagctgtcac catgctccaa ctcccacaca
     1441 aacgcttcta ccccttccag aacttaccca tcatcccccc atggatcctt tcagtaaaaa
     1501 ccctttcaat ttccaaaa
//
