LOCUS       NM_001363562            4274 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 196 (TMEM196), transcript
            variant 2, mRNA.
ACCESSION   NM_001363562 XM_011515249
VERSION     NM_001363562.2
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 4274)
  AUTHORS   Chen,J., Wang,D., Chen,H., Gu,J., Jiang,X., Han,F., Cao,J., Liu,W.
            and Liu,J.
  TITLE     TMEM196 inhibits lung cancer metastasis by regulating the
            Wnt/beta-catenin signaling pathway
  JOURNAL   J Cancer Res Clin Oncol 149 (2), 653-667 (2023)
   PUBMED   36355209
  REMARK    GeneRIF: TMEM196 inhibits lung cancer metastasis by regulating the
            Wnt/beta-catenin signaling pathway.
REFERENCE   2  (bases 1 to 4274)
  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   3  (bases 1 to 4274)
  AUTHORS   Lee,J.U., Chang,H.S., Baek,D.G., Shin,H.D., Park,C.S. and Park,J.S.
  TITLE     Associations between TMEM196 polymorphisms and NSAID-exacerbated
            respiratory disease in asthma
  JOURNAL   Pharmacogenet Genomics 29 (4), 69-75 (2019)
   PUBMED   30694883
  REMARK    GeneRIF: The minor alleles of the four SNPs in TMEM196 may exert a
            protective effect against the development of NSAID-exacerbated
            respiratory disease(NERD) and may be useful genetic markers to
            predict the risk of NERD.
REFERENCE   4  (bases 1 to 4274)
  AUTHORS   Liu,W.B., Han,F., Huang,Y.S., Chen,H.Q., Chen,J.P., Wang,D.D.,
            Jiang,X., Yin,L., Cao,J. and Liu,J.Y.
  TITLE     TMEM196 hypermethylation as a novel diagnostic and prognostic
            biomarker for lung cancer
  JOURNAL   Mol Carcinog 58 (4), 474-487 (2019)
   PUBMED   30536447
  REMARK    GeneRIF: Low TMEM196 expression is associated with lung cancer.
REFERENCE   5  (bases 1 to 4274)
  AUTHORS   Liu,W.B., Han,F., Jiang,X., Chen,H.Q., Zhao,H., Liu,Y., Li,Y.H.,
            Huang,C., Cao,J. and Liu,J.Y.
  TITLE     TMEM196 acts as a novel functional tumour suppressor inactivated by
            DNA methylation and is a potential prognostic biomarker in lung
            cancer
  JOURNAL   Oncotarget 6 (25), 21225-21239 (2015)
   PUBMED   26056045
  REMARK    GeneRIF: TMEM196 acts as a novel functional tumour suppressor
            inactivated by DNA methylation and is an independent prognostic
            factor of lung cancer
REFERENCE   6  (bases 1 to 4274)
  AUTHORS   Foroud,T., Lai,D., Koller,D., Van't Hof,F., Kurki,M.I.,
            Anderson,C.S., Brown,R.D. Jr., Connolly,E.S., Eriksson,J.G.,
            Flaherty,M., Fornage,M., von Und Zu Fraunberg,M., Gaal,E.I.,
            Laakso,A., Hernesniemi,J., Huston,J., Jaaskelainen,J.E.,
            Kiemeney,L.A., Kivisaari,R., Kleindorfer,D., Ko,N., Lehto,H.,
            Mackey,J., Meissner,I., Moomaw,C.J., Mosley,T.H., Moskala,M.,
            Niemela,M., Palotie,A., Pera,J., Rinkel,G., Ripke,S., Rouleau,G.,
            Ruigrok,Y., Sauerbeck,L., Slowik,A., Vermeulen,S.H., Woo,D.,
            Worrall,B.B. and Broderick,J.
  CONSRTM   Familial Intracranial Aneurysm Study Investigators
  TITLE     Genome-wide association study of intracranial aneurysm identifies a
            new association on chromosome 7
  JOURNAL   Stroke 45 (11), 3194-3199 (2014)
   PUBMED   25256182
REFERENCE   7  (bases 1 to 4274)
  AUTHORS   Hwang,S.J., Yang,Q., Meigs,J.B., Pearce,E.N. and Fox,C.S.
  TITLE     A genome-wide association for kidney function and endocrine-related
            traits in the NHLBI's Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S10 (2007)
   PUBMED   17903292
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4274)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004543.2.
            
            On Aug 31, 2019 this sequence version replaced NM_001363562.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.229817.1,
                                           SRR1660803.39759.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000405844.6/ ENSP00000385087.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1068              AC004543.2         64293-65360
            1069-1125           AC004543.2         108472-108528
            1126-1380           AC004543.2         112142-112396
            1381-1454           AC004543.2         113557-113630
            1455-4274           AC004543.2         115776-118595
FEATURES             Location/Qualifiers
     source          1..4274
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..4274
                     /gene="TMEM196"
                     /note="transmembrane protein 196"
                     /db_xref="GeneID:256130"
                     /db_xref="HGNC:HGNC:22431"
     exon            1..1068
                     /gene="TMEM196"
                     /inference="alignment:Splign:2.1.0"
     CDS             922..1461
                     /gene="TMEM196"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 196 isoform 2"
                     /protein_id="NP_001350491.1"
                     /db_xref="CCDS:CCDS87484.1"
                     /db_xref="GeneID:256130"
                     /db_xref="HGNC:HGNC:22431"
                     /translation="MCTSGQIIGSLLVLSVLEIGLGVSSVAVGAVSFSLALREHKPQL
                     GDSSPFLLCGICGILCAKKKSGLVMILFSACCICGLIGGILNFQFLRAVTKKTSSLYP
                     LHLASMSLACIGIGGCTLSSWLTCRLASYEQRRMFSEREHSLHHSHEMAEKRLRAIEI
                     TDLPSCPVVPPTPELPTRK"
     exon            1069..1125
                     /gene="TMEM196"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1380
                     /gene="TMEM196"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1454
                     /gene="TMEM196"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..4274
                     /gene="TMEM196"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4250..4255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM196"
                     /note="hexamer: AATAAA"
     polyA_site      4274
                     /gene="TMEM196"
                     /note="major polyA site"
ORIGIN      
        1 cccctctccg ctggatagaa gcccagaaag gagccacggg gagaagcgga ggtaggggtc
       61 gcctggattt ctgttgctgc ggtccggggg cggggcggat caaaggccag ccaagagtac
      121 tggtcctgga tctacaaata cattaggctt tttcctcctc cgtcaacctc ctaaacccca
      181 atgaggtcat agcaatgaaa gagaatcagc tcgagagaaa ggaggaggaa gaggacgacg
      241 acgagggaga agaaacccag acggaaagag gccatcagac aaggtcgctt tttctggcga
      301 caaagcaact gcaaggagcg tggtgctgaa tatcatccgc ccgctctgcc tggggaccca
      361 gagacttgca gaagcacttc gcattgccac gaaaacaaag gagaggtgac gaacgggaga
      421 gggagagaga aactcggagc ggttcccttt ggatctccgg gaagcaaagc tcctctcctc
      481 ggcaataaaa cagaagggac cctgtgaaag ggtctagtag gctgaggagg gcgcgggttt
      541 ccctgcggag atttgggacg cggcagaact ctggacagcg cctggggagc aaggctcgga
      601 gctccctggg ctcctccagg ttttccgctg cttaaaagcc ccggtaccgg tgtgcaatct
      661 tcgcaccacc gaacccagga agatccttct acgatcccta tctgaacgtg ccagggggtg
      721 gagcagctcc tttgcctctg gcccagccag ggaaggtctt cgtttctgga aatccagccc
      781 ttgtggataa tgcctcgctc ttgaagaaag aaaagttttg ggatctggta gggggtggaa
      841 ggggtaagga ggatagtgga agaaaaaaag gtagatggtt gatttccctc tctgatctgg
      901 aaggaagatg accgaggaag gatgtgcacc agcggtcaga ttattgggag cctcttggtg
      961 ctctccgtgc tggagatagg gctgggggtg tccagcgtgg ccgtgggggc ggtcagcttc
     1021 agcctggccc tccgagagca caagccgcag ctcggagact cgtccccgtt tcttctttgt
     1081 ggcatttgtg gaatattgtg tgccaaaaaa aaatcaggac ttgtcatgat cctcttttca
     1141 gcctgctgta tctgtggact tattgggggc atcctgaatt ttcagttcct ccgggcagtc
     1201 acaaagaaaa cttcctccct atacccactg caccttgcct ccatgtctct cgcgtgcatt
     1261 gggatcgggg gctgcactct ctcttcctgg ctcacttgtc gactagccag ttatgaacag
     1321 aggaggatgt tctcagaaag ggagcattcc ctgcatcact ctcatgaaat ggctgagaaa
     1381 agattgaggg ctattgaaat aaccgacttg cccagctgcc cggtggtgcc cccgacacca
     1441 gagttaccta caaggaaata acagacaaca tgagcaatgg aggaccacag ctgatattta
     1501 atggaagagt gtaatcaatg ttttaaagaa ttgaacactt tttaggattt tcatgaggca
     1561 atgagacacc aaaggactag aaaataaaac agtttttgca tttgcattta tctctcctga
     1621 gcatccacta aaattattct tcctaaaaaa tatattgcct cactggtttc tccacccttt
     1681 tttatggggt aaaaaacttt ccagaaacat tctagtacaa taatttcaag aggctttcca
     1741 gattgttcta aagaagactt ttcaggaaaa agagataata aaacagaaat aaaatgcata
     1801 ttctatacaa acactatttg actagcatga ttattatatt tgtaatgaca tatttcatat
     1861 gagtaattga aaagtgcaaa tatcaagaaa taaaaataac ttattgacgt ctttgttctg
     1921 aaagacagat ggcttcaagg atgctacaat tcaaaacctc agtaatgcct tgttataaaa
     1981 acattgtaat tattttcaac ttgtgaatga aatatatttc ataatttatt tgtaaatgac
     2041 aaaaaacctc aagcataaaa aagagacttt ttagagagag agaatactaa tctatatggt
     2101 atttttgcat ttttgcacaa agagtgaaaa gttatatgtg aatatcattt aagaaaataa
     2161 acatgttttg atcatactgt gcagattgat ctgcatgttc atgaatgagc ctaagaataa
     2221 agtatgtgtg tgaatgtgtg tatacatact gtaaatatag aacatgtata cagcatatat
     2281 tatagcatac atgaatgtaa ataggtatta gaaaagaaat tgtgatgctg tgggggtatt
     2341 attaagattc tactccaata gaaatgggaa ggcaattgct caaggccctt ctatgcccac
     2401 aaaatcacat gtttaatttc tactaaaatt gcccattttt cttcttttaa ttaggttttg
     2461 tgtaaatatc attgtgggtg atatttatga agatgagtga tctgaatagt gtagtataca
     2521 gatagactac ttatttgact atttcactat gattatagta tttatgtata gcaattaaaa
     2581 ttaatttata aacgaacatg actttaatga catacttccg tatttataaa gatatcatga
     2641 cttaaaatta ttgatgatat tgatatttca aacaccttgc agtccagtta aatgatacaa
     2701 aagggcagat gatgtaaccc cccaacaatg aagttataat tacctttgct gtaatctaat
     2761 ttaggtgttt tgttttacga ttctcatgaa ataatatagg cagtccatat ataagaaagc
     2821 ctatatccaa agatcctgaa agaattcttt gaggaaaaag tgaaaagata ggctaacatt
     2881 tgtatagcta gattcaatcc tttcctctaa taatggaatg ttaaaatagc aaacaagaac
     2941 aacacatata agtgaaaaaa caacatatat ctgaatatat ttatcagaat ataacctctg
     3001 gcaacagaca aagaaatcta tcatttttaa atacataact ctcactatat tgtatacttt
     3061 tctttttcct caaatctaat caattttcaa gtcatttttt atgagttact tgttgaacca
     3121 taggtaaatt aaaatattta ctgttcagta tgagaatata atttataaac aaaacatgag
     3181 ttttaattgt gctaacacag taatgatcat tcaagttaat gaaaatttga aggtctttta
     3241 tagcaacatg atcatcgttt aacctattta aatcagctca cttaaaattc tggctgtcat
     3301 ctattcaaca gaaataactg gactctgctt gtttggtgca ctttttgaag tctcccaatt
     3361 cctttggata acttcattgc ctagtagatt acagaagttg tccataaatg caacctcata
     3421 tagtgaatca acatcataac tattcattca atgccacaaa caggcatgat ctttgccaat
     3481 gaaaatctaa attacatcat gaagatattt gtgtgtgtat ggtcctcctg aattcatgca
     3541 aggatgtagt tttgtactga aagaataaac actgactcta attttcagta gcatttctct
     3601 ataaacatgc ttgttcaata caaaattata atacatcaga aaaatgttgt aatgcctttt
     3661 gaactgatct ataacataac acattaaagg acaaaaggag acatatcact gctttgatgt
     3721 atagttaaaa agagatgcca tcatcacaat tattcaaata gtttacagtg tatgtttaac
     3781 caagtataga tatattttta aatatgatta tttctaccta gtattttcag aattgagttt
     3841 agaatgattt acttgggatg tgcggcgatt cttttttaga taagtggggg atgttaggaa
     3901 gacattgttc aagtgcttga aactttaatt tggacaatac attgaaccac atgctggaat
     3961 gttttaagtg actaccttat agttttagta tgagcctacc cttggaagaa agtaaggtga
     4021 tactaaatta gaaaaactat gtgaaactgg agtggtggta tactttggac catatcaaat
     4081 aggtagagta ttataagcat aaaagaataa aattgggctc gctttggaaa ttttaaacat
     4141 atatgtgtat gtgtgtatat atatgcatat acatacacat atgtgtatat acacacacac
     4201 aatggtttgg aagtggaaca ggaaatgata actctactga catgtctata ataaaatgat
     4261 gtgctttgaa acta
//
