LOCUS       NM_001258244            3805 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 218 (TMEM218), transcript
            variant 9, mRNA.
ACCESSION   NM_001258244
VERSION     NM_001258244.2
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 3805)
  AUTHORS   Epting,D., Decker,E., Ott,E., Eisenberger,T., Bader,I., Bachmann,N.
            and Bergmann,C.
  TITLE     The ciliary transition zone protein TMEM218 synergistically
            interacts with the NPHP module and its reduced dosage leads to a
            wide range of syndromic ciliopathies
  JOURNAL   Hum Mol Genet 31 (14), 2295-2306 (2022)
   PUBMED   35137054
REFERENCE   2  (bases 1 to 3805)
  AUTHORS   Van De Weghe,J.C., Giordano,J.L., Mathijssen,I.B., Mojarrad,M.,
            Lugtenberg,D., Miller,C.V., Dempsey,J.C., Mohajeri,M.S.A., van
            Leeuwen,E., Pajkrt,E., Klaver,C.C.W., Houlden,H., Eslahi,A.,
            Waters,A.M., Bamshad,M.J., Nickerson,D.A., Aggarwal,V.S., de
            Vries,B.B.A., Maroofian,R. and Doherty,D.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     TMEM218 dysfunction causes ciliopathies, including Joubert and
            Meckel syndromes
  JOURNAL   HGG Adv 2 (1) (2021)
   PUBMED   33791682
REFERENCE   3  (bases 1 to 3805)
  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   4  (bases 1 to 3805)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3805)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 3805)
  AUTHORS   Li,C., Jensen,V.L., Park,K., Kennedy,J., Garcia-Gonzalo,F.R.,
            Romani,M., De Mori,R., Bruel,A.L., Gaillard,D., Doray,B., Lopez,E.,
            Riviere,J.B., Faivre,L., Thauvin-Robinet,C., Reiter,J.F.,
            Blacque,O.E., Valente,E.M. and Leroux,M.R.
  TITLE     MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary
            Transition Zone
  JOURNAL   PLoS Biol 14 (3), e1002416 (2016)
   PUBMED   26982032
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AA459752.1, BE513148.1, BQ681518.1, BC132716.1, CX870447.1,
            AP001007.5, BX094574.1 and AA781367.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001258244.1.
            
            Transcript Variant: This variant (9) differs in the 5' UTR compared
            to variant 1. Variants 1-11 and 19-37 all encode the same isoform
            (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.172288.1,
                                           SRR1660807.154729.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682305.1/ ENSP00000506979.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AA459752.1         82-97
            17-74               BE513148.1         39-96
            75-102              BE513148.1         98-125
            103-602             BQ681518.1         144-643
            603-950             BC132716.1         653-1000
            951-1616            CX870447.1         159-824
            1617-1721           AP001007.5         14032-14136         c
            1722-2452           BX094574.1         10-740
            2453-3339           AP001007.5         12414-13300         c
            3340-3805           AA781367.1         24-489              c
FEATURES             Location/Qualifiers
     source          1..3805
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..3805
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="transmembrane protein 218"
                     /db_xref="GeneID:219854"
                     /db_xref="HGNC:HGNC:27344"
                     /db_xref="MIM:619285"
     exon            1..88
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /inference="alignment:Splign:2.1.0"
     exon            89..164
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /inference="alignment:Splign:2.1.0"
     exon            165..350
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /inference="alignment:Splign:2.1.0"
     CDS             241..588
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="isoform 2 is encoded by transcript variant 9"
                     /codon_start=1
                     /product="transmembrane protein 218 isoform 2"
                     /protein_id="NP_001245173.1"
                     /db_xref="CCDS:CCDS31715.1"
                     /db_xref="GeneID:219854"
                     /db_xref="HGNC:HGNC:27344"
                     /db_xref="MIM:619285"
                     /translation="MAGTVLGVGAGVFILALLWVAVLLLCVLLSRASGAARFSVIFLF
                     FGAVIITSVLLLFPRAGEFPAPEVEVKIVDDFFIGRYVLLAFLSAIFLGGLFLVLIHY
                     VLEPIYAKPLHSY"
     exon            351..453
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /inference="alignment:Splign:2.1.0"
     exon            454..3805
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1138..1143
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="hexamer: AATAAA"
     regulatory      1146..1151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="hexamer: AATAAA"
     regulatory      1150..1155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="hexamer: AATAAT"
     polyA_site      1156
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="major polyA site"
     polyA_site      1179
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
     polyA_site      1182
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="major polyA site"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="hexamer: GATAAA"
     regulatory      3153..3158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="hexamer: AGTAAA"
     polyA_site      3165
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
     polyA_site      3176
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
     regulatory      3785..3790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
                     /note="hexamer: ATTAAA"
     polyA_site      3805
                     /gene="TMEM218"
                     /gene_synonym="JBTS39"
ORIGIN      
        1 aaaccagagc cccgtgggct ggaacgcgcc ggaatctgag gtgtgagtag agcctggggg
       61 agagtggatc caggtgaagg gggcagagga ctgggagttt tcatcctctt gaataagaac
      121 tcgacaacag agtgggaact ttctgtcttg tgatccattg cctgtgtgtt gcactggagc
      181 acagaggaca ctcgatcgtg cggcgcgcag ggcggggggc cgccgctgcc tccccgcggg
      241 atggctggca ctgtgctcgg agtcggtgcg ggcgtgttca tcttagccct gctctgggtg
      301 gcagtgctgc tgctgtgtgt gctgctgtcc agagcctccg gggcggcgag gttctctgtc
      361 atttttttat tcttcggtgc tgtgatcatc acatcagttc tgttgctttt cccgcgagct
      421 ggtgaattcc cagccccaga agtggaagtt aagattgtgg atgacttttt cattggccgc
      481 tatgtcctgc tggctttcct tagtgccatc ttccttggag gcctcttctt ggttttaatc
      541 cattatgttc tggagccgat ctatgccaaa ccactgcact cctactgacc actcttcagg
      601 aaaacgaaaa cctgttctct ccttcattgt gatgacattg atgagcagga aggcactatt
      661 cagagccttg ttttgacagc cctcatgcct taaggttaga ggagtatctg tccatcacta
      721 agacaaatct ctggagtcct ggcttccaga aacaggattg ccaaattgtc cctgtggggc
      781 tagattctta ccagcttaag aaggatattg ctatcttctt agtacccgta ccttaggatt
      841 tccaactgtt ttgaaaggga aatagtaaca gtgatctgct tagagtggat tttcactcaa
      901 gtccttagta agtggatttt ggggaaaaaa gcacctgggc ttctggttct ttttgataat
      961 atataaaatt attcattatg aggttgcagt tgtttgcaaa ggagaggcac tcaaatttga
     1021 aaggttattt taatgtgata atttggaaga cttactcaga tgttggtcat tgaccactct
     1081 gtgcatatat ttctgcagag ctctgtgaag gcaatgagtg tcacttccct ctgctctaat
     1141 aaagcaataa ataatagcta aagggctgac tttcacttcg aactcttggc cacggctttt
     1201 taatcaagtt ctttaggttt ccttgggatt agaggaaagg tatggaaata ttgttttttg
     1261 ttttttgtct tgccatgtat ctgtaggttt ttttcttcca tgatgtggtg ggctgtgtgt
     1321 gccttattta attaccatga gtccattttg gggtgtcttc acttttcatc tttgtagccc
     1381 tttctccaaa gctagtgagg aaggtatatt ctcaacatca gatataactc tatacctgtc
     1441 tgatctccca gaccaaatga aatttgcatt aaatggaggg gccctggtca ggttccactt
     1501 tggaagtctg atcctgactc cctagagcca tttgaaaaag aatcttctgg cttaaaatta
     1561 agaaccaaga aaacaagttg gaaagagatc actgatggag tatgtgctct atgccaatag
     1621 cacactaatt cctttgaggt ttaatttatt taatttttac aacggtctca tttttatcat
     1681 ccccacttta aagtagaaaa aatggaagct taaagagatc agctgacttg cccaaccttc
     1741 acctaacagc cagtgtgcaa acccaggtgt ggtaggcccc agggcttgtc tcagagagaa
     1801 aacacactag ggtttgtgga actctgattg agagcttcag gtaggttaag gccacactgt
     1861 tccttcactt tctctcctca attctgtttt cagggtagag aagttaccca gtcctgccac
     1921 cccacaggca actaagctct aaattccaag aagagagaac aggtaaccac tgagagtcat
     1981 gggctggtga gggccaggta tagttatccc tacattgaac catttccttt atcttactta
     2041 gtttggaaaa actttgcaga taaggctttg tacagaaaac ttcaaaggaa atagtttcct
     2101 aatctggcct agggcacaca ggtaagaaaa gaagaaacat cctctaagca gattgaggga
     2161 gagaaaaaag aatgcataag tcttgaggga attgagacaa gctgggggcc tcatgctatt
     2221 gtgagtctcc ctgcagccca agtggaagct tggctcctaa caagcacaag ctgccaattg
     2281 ttaccttctt ctgagagcct tgctaaaaaa gtaactctgg gaaaactctt ataggttcct
     2341 gaccatgaat ccatcttttt tattcccccc aaaagttatt caactattag atcaatggat
     2401 aataactatg aggttttggg tgactattta gatggaggaa agtgtattaa ggttggaaac
     2461 taaattctat ccttaatact actgttttct aatttttgtt tttttgcctg atgtaaatga
     2521 aaggcatata tgttaaagat tggctttagg aaaaaaaaaa aaataccctg tgcaaagttt
     2581 atttcagctt gacttgacct acagtctaca gacctggagt ctataattac cagctgtggt
     2641 gaaatgaatg atagatttct ttctacctgc atactcaatg cagttatgca aaaaaagccc
     2701 cgcagggttg ggataagacg tagaaggctg agagggctca aaatggattt cactgagagt
     2761 ttggcatggg ataaccctat agtcaatgtc tgttatggta ccctgtatgc tcatggcctt
     2821 cttggagaca gggctcagag gtcattcctt aaatacagac agaagtcatc ttagtgttca
     2881 gaaccattct gtgatcagtg gccttagaac atgttccctc tactgttccc tacccagagg
     2941 ggatcctgtg gcagactggt gatccccact gtttagaagg tggagaggga gagtaaatct
     3001 gggtttctat ataagaaaat aggttatttc gtggcgtctt aaaattgtat cctgacaaaa
     3061 gctgaattag gaggatacca ccctatcccc acaatggaga tcacaatggg taatttgtta
     3121 agttccttaa atttttcact gataaaaatg gaagtaaagc taccattctt tgtgtacaat
     3181 gtaaatttaa tgtaaaactg catcagaatt accataccaa tgtccaggga ctagggagta
     3241 catagccatt cattctcgaa tcctgccatt cattcagcat atattgtgtg cccgtagggt
     3301 gtaaagcact agtcctggtg gagtaagccc atggaagaac taggctgtaa ggtgtctaga
     3361 ctgtcttcct cactgcttcc tggaaggagg gcatccaatt tatttttaaa tgtttttatt
     3421 ctaacataaa gcaatccatt ttttgttctg ttatttaaca gaaactttag tatcaactct
     3481 atttcatggt tgttgcagtt gaagtgtttc tggtttattt tttgctcaat gtgtaaagaa
     3541 acctgctgtg attattttac agatgagaaa caggcagaga ggacaaggga tttaaaaagt
     3601 ttcacagtta attagaagtg gggctccaac ttgacatcag gattcctgac atctcatttc
     3661 tcaaatagtt gaaagatcac ttttgacttt caagtaactc cttattttta cattggttaa
     3721 tactgtttct tagctgtttg tacctgacat tttcttaaca catatccaaa aaggtaaaag
     3781 tttcattaaa ggattctaat gatca
//
