LOCUS       NM_001348543            4060 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens transmembrane protein 229B (TMEM229B), transcript
            variant 3, mRNA.
ACCESSION   NM_001348543 XM_005267373
VERSION     NM_001348543.2
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 4060)
  AUTHORS   Di'Narzo,A.F., Houten,S.M., Kosoy,R., Huang,R., Vaz,F.M., Hou,R.,
            Wei,G., Wang,W., Comella,P.H., Dodatko,T., Rogatsky,E.,
            Stojmirovic,A., Brodmerkel,C., Perrigoue,J., Hart,A., Curran,M.,
            Friedman,J.R., Zhu,J., Agrawal,M., Cho,J., Ungaro,R.,
            Dubinsky,M.C., Sands,B.E., Suarez-Farinas,M., Schadt,E.E.,
            Colombel,J.F., Kasarskis,A., Hao,K. and Argmann,C.
  TITLE     Integrative Analysis of the Inflammatory Bowel Disease Serum
            Metabolome Improves Our Understanding of Genetic Etiology and
            Points to Novel Putative Therapeutic Targets
  JOURNAL   Gastroenterology 162 (3), 828-843 (2022)
   PUBMED   34780722
  REMARK    GeneRIF: Integrative Analysis of the Inflammatory Bowel Disease
            Serum Metabolome Improves Our Understanding of Genetic Etiology and
            Points to Novel Putative Therapeutic Targets.
REFERENCE   2  (bases 1 to 4060)
  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 4060)
  AUTHORS   Nalls,M.A., Pankratz,N., Lill,C.M., Do,C.B., Hernandez,D.G.,
            Saad,M., DeStefano,A.L., Kara,E., Bras,J., Sharma,M., Schulte,C.,
            Keller,M.F., Arepalli,S., Letson,C., Edsall,C., Stefansson,H.,
            Liu,X., Pliner,H., Lee,J.H., Cheng,R., Ikram,M.A., Ioannidis,J.P.,
            Hadjigeorgiou,G.M., Bis,J.C., Martinez,M., Perlmutter,J.S.,
            Goate,A., Marder,K., Fiske,B., Sutherland,M., Xiromerisiou,G.,
            Myers,R.H., Clark,L.N., Stefansson,K., Hardy,J.A., Heutink,P.,
            Chen,H., Wood,N.W., Houlden,H., Payami,H., Brice,A., Scott,W.K.,
            Gasser,T., Bertram,L., Eriksson,N., Foroud,T. and Singleton,A.B.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   4  (bases 1 to 4060)
  AUTHORS   Demirkan,A., van Duijn,C.M., Ugocsai,P., Isaacs,A.,
            Pramstaller,P.P., Liebisch,G., Wilson,J.F., Johansson,A., Rudan,I.,
            Aulchenko,Y.S., Kirichenko,A.V., Janssens,A.C., Jansen,R.C.,
            Gnewuch,C., Domingues,F.S., Pattaro,C., Wild,S.H., Jonasson,I.,
            Polasek,O., Zorkoltseva,I.V., Hofman,A., Karssen,L.C.,
            Struchalin,M., Floyd,J., Igl,W., Biloglav,Z., Broer,L., Pfeufer,A.,
            Pichler,I., Campbell,S., Zaboli,G., Kolcic,I., Rivadeneira,F.,
            Huffman,J., Hastie,N.D., Uitterlinden,A., Franke,L., Franklin,C.S.,
            Vitart,V., Nelson,C.P., Preuss,M., Bis,J.C., O'Donnell,C.J.,
            Franceschini,N., Witteman,J.C., Axenovich,T., Oostra,B.A.,
            Meitinger,T., Hicks,A.A., Hayward,C., Wright,A.F., Gyllensten,U.,
            Campbell,H. and Schmitz,G.
  CONSRTM   DIAGRAM Consortium; CARDIoGRAM Consortium; CHARGE Consortium;
            EUROSPAN consortium
  TITLE     Genome-wide association study identifies novel loci associated with
            circulating phospho- and sphingolipid concentrations
  JOURNAL   PLoS Genet 8 (2), e1002490 (2012)
   PUBMED   22359512
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132640.4.
            
            On Jun 3, 2019 this sequence version replaced NM_001348543.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and uses
            an alternate splice junction in the coding region compared to
            variant 1. The resulting isoform (b) is shorter at the N-terminus
            compared to isoform a. Variants 2-9 all encode the same isoform
            (b).
            
            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 :: SRR1163657.300729.1, DB130651.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000554480.6/ ENSP00000450859.2
            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
            1-214               AL132640.4         154587-154800
            215-387             AL132640.4         156136-156308
            388-4060            AL132640.4         169367-173039
FEATURES             Location/Qualifiers
     source          1..4060
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.1"
     gene            1..4060
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /note="transmembrane protein 229B"
                     /db_xref="GeneID:161145"
                     /db_xref="HGNC:HGNC:20130"
                     /db_xref="MIM:619022"
     exon            1..214
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /inference="alignment:Splign:2.1.0"
     exon            215..387
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /inference="alignment:Splign:2.1.0"
     exon            388..4060
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /inference="alignment:Splign:2.1.0"
     CDS             406..909
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /note="isoform b is encoded by transcript variant 3"
                     /codon_start=1
                     /product="transmembrane protein 229B isoform b"
                     /protein_id="NP_001335472.1"
                     /db_xref="CCDS:CCDS9783.1"
                     /db_xref="GeneID:161145"
                     /db_xref="HGNC:HGNC:20130"
                     /db_xref="MIM:619022"
                     /translation="MASAEPLTALSRWYLYAIHGYFCEVMFTAAWEFVVNLNWKFPGV
                     TSVWALFIYGTSILIVERMYLRLRGRCPLLLRCLIYTLWTYLWEFTTGFILRQFNACP
                     WDYSQFDFDFMGLITLEYAVPWFCGALIMEQFIIRNTLRLRFDKDAEPGEPSGALALA
                     NGHVKTD"
     regulatory      4038..4043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /note="hexamer: AATATA"
     polyA_site      4060
                     /gene="TMEM229B"
                     /gene_synonym="C14orf83"
                     /note="major polyA site"
ORIGIN      
        1 agttctgact tgtgccgtgg atgtggctga gggcctaggg tggggagaag tctccacagg
       61 tgggattgaa ctccccaggc acatggtcct tgtggtgctg gtggagagag agtcccagag
      121 ggttcggaca tgctccgtta aaaccttttc ctcaaggtga taggtacgtg tcaaggtgac
      181 ccctgtccgc catccggcag gctggaagaa gccgggacac atggaagctg ccagcccccc
      241 agccaaggat cagctgagcc ctagggctga tgcttgccta cgttgctgag aatggcactg
      301 aggcccagcc aacaaaggtt aacccaggac actcctggac agtgatcctg atgtctgttg
      361 tgagctgcac actcaagggt gtgataacca gccccagtcg gcgccatggc gtctgccgag
      421 cccctgacgg cgctgtcccg ctggtacctg tatgccatcc acggctactt ctgcgaggtg
      481 atgttcacag cggcctggga gttcgtggtg aacttgaact ggaagttccc tggggtcacg
      541 agcgtgtggg ccctcttcat ctacggcacc tccatcctca tcgtggagcg catgtacctg
      601 cggctgcgcg gccgctgccc gctgctcctg cgctgcctca tctacacgct ctggacctac
      661 ctgtgggagt tcaccaccgg cttcatcctg cgccagttca acgcctgccc ctgggactac
      721 tcccagttcg actttgactt catgggcctc atcaccctgg agtacgccgt gccctggttc
      781 tgcggggccc tcatcatgga gcagttcatc atccgcaaca ccctccgcct ccgcttcgac
      841 aaggacgctg agcccgggga gcccagcggc gccctagccc tggccaacgg ccatgtcaag
      901 actgactgag caggaagcgg gtggggggcc tggggatctc tcatggaact catggacaaa
      961 gagaccaagc tggtgaggtt gccccatcca tgcagcaaaa gccctgctcc ggccaagcct
     1021 cagccctata gggcacacag agccccctaa cgtccgcggg ggccggtgtt ggggggccgt
     1081 ggtcaggtgt tgggggatgg ggtgtggagg cagcagaggg acattgggaa gggtccatgg
     1141 atcgcggccc agttcagggg ttggtaccag gaggcctgtg gctgagcagc gatggactat
     1201 gtagttgact ttggaagcag caggccctgt cctggccaag ggacaatgag aatggggccg
     1261 caggtgggag gcaaggcctg acctccctcc ctccgatctg gatttagttg agctttggct
     1321 ggttccatta ggcaatattc aggtgcttgc ttgcaaccaa tacctcccca ggggcctgct
     1381 gagctgcagc cgaggagaga ctgggcagcc aggaggctgc gtggcagcaa cgctggtctg
     1441 caagggctgg gagaccctcc cttggctcct ctcccctccc ccagggccct gcgctgctcc
     1501 cttggccttc tggggccccc gtggtgctgg attcccacca accttgggct tttggaggtt
     1561 tcaatccccg tgtgttcggt ggcgtttccc ccttttctgt cttgttttca aagcctttac
     1621 cactagcggc tctttatcca cgtcggtcgc cacacctgcc ccaccccagc tccctagcca
     1681 gcacaggagc tgccggagat gaagccctga gacaccccca accctcaccc ccttgcagcc
     1741 cttccctcca ctgttccggc tggcctgatg cctggggagt tcctgagtta cacctcccta
     1801 cccccggtct agtgggctgt ggcagtgctc ccttctcagt ggctcagctg agaacaaatg
     1861 atgccctcca atgcacaggc aggctgggtt aggccctgtg gatccacagt ggggacctag
     1921 aggcaagtca gtttggtggg gaaaagccag agttctaggt catctattcc ctgcctggtt
     1981 tattttcaag ccaaaactga gcagtctagc tttctatggg atggagaagc caggtatcca
     2041 gcattggaga ctgatggaga atgagaggaa gaaagagagg aggaccttgc agctgtggaa
     2101 ggctccttgg agcctccttt gtgggagggt atcagttctg gttctgccag agcctcagcc
     2161 ctggtagcag aacctcaggg ctgcccctct ccccaaactc ctcccagcaa ggctgaccct
     2221 ttgagctcac tccttaaaca gtattaaccc tgccacactc atgggcattg gcaccttggt
     2281 tcccctgccc cactttgtcc tgtgacaggt ccattgctgg cagtggacag gtgaaatact
     2341 cactccagcc tacttccggc tctgactctc actcctcaag gggaagggtc cgttagaaag
     2401 tggcccaccc catggtacat ggtctcttct tgaccacact aggactctta ggtagaaatt
     2461 agccttcccc tttttatgga tcattacaaa gtgacggtat cacctgtgga gagaatgtcc
     2521 tcttccctgc tggctgccct gcccatactg tgcagggtgt ggtggggtgc agggtgtggt
     2581 ggggtgggcc acagttgtgt cctaggtctg gagaaaagct tgcagactct gcctttggca
     2641 ggattttctg cagttagccc cgtccagagc agaacgaagg gtatttccta gcctatttcc
     2701 tgggcaggct cctcaaatcc agggatgaac tactttctgc agtggccagc cctccttttg
     2761 attttattgt ggccccaatt ccagggcttt gggggttaca gagaatcagg cttccggtgg
     2821 gagtagattg ttttccatct ataggtggag aaaattccag gaggagaata ttgtctggct
     2881 tccccgttct ctctgggcaa ttgtttcctt ggttctctct ccaactccat gttgtcttag
     2941 tctcccagca ccccttcagg ccttccatgt gggcccctag accacactac ccaccttcac
     3001 acttgcattc cacaactcag tccagtggcc agcttgttga tgcctccata attctcagcc
     3061 agagcaaatc cttgattggc ccaccaggtc ttgctgctcc agaagttgcc ttgtgggcat
     3121 tccctggcac catttcctct ctgggtccta tactttccca agtgcaggag gtcctggggg
     3181 tatgcctgtg tgcctggcaa catccagcat tgtgtttctg ctccatctag gtgtcccatt
     3241 tctccagttg cccctcataa ggcatcaaac ctccagcaaa ggaaggcaac aacccatggc
     3301 ctgaccacgg gatctacagg ttcagatctc accagggata gcccagactt caattcttgc
     3361 ttttttgggt atcagggccc caatccctta gtggccaggg actcaaagtt tggaataatc
     3421 ccagccctgc caagcattaa gggtgctggt ggggagtgtt tgctggctgt tcatgaacct
     3481 ctggtgtcct gggcctctct ccactagaca tggcagcatc tctgagttac agattgcaat
     3541 gtgttgccct gcatggttga actgcttcgg acatctgcta ggcatcccat gtgccctgtc
     3601 ccctcttcaa tgccagtgag tcacaatggc ctatgcttat tcacagcaat aatacctagg
     3661 gagtccccat gaagcccttt tgtcctggtc cctcactctg cgtgggtctc ctggggaggc
     3721 agctgctgag tgggtcagtt catgagaacc tgcatttatg aagccctggg ctgtgtaggc
     3781 atcaccctgg gatgcagaca ggttagaggc ccagccctta ggggagccat ggcagggaga
     3841 gtgccttcca ccctgaggcc acccagacct ggaggagatg caggccccag ctctgctaaa
     3901 gggcctttga ggtgggtggg actgtctccc agttgggcag ctcttgagaa ggacacacga
     3961 ccggtttgtg cgcccattgc ctgctctgtg tctccgttgg tccctctgtc tcttcctttt
     4021 cacatttgtg cacataaaat atactggtgt ttgtgttcca
//
