LOCUS       NM_001173990            1053 bp    mRNA    linear   PRI 31-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 216 (TMEM216), transcript
            variant 2, mRNA.
ACCESSION   NM_001173990
VERSION     NM_001173990.3
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 1053)
  AUTHORS   Malka,S., Biswas,P., Berry,A.M., Sangermano,R., Ullah,M., Lin,S.,
            D'Antonio,M., Jestin,A., Jiao,X., Quinodoz,M., Sullivan,L.,
            Gardner,J.C., Place,E.M., Michaelides,M., Kaminska,K., Mahroo,O.A.,
            Schiff,E., Wright,G., Cancellieri,F., Vaclavik,V., Santos,C.,
            Rehman,A.U., Mehrotra,S., Azhar Baig,H.M., Iqbal,M., Ansar,M.,
            Santos,L.C., Sousa,A.B., Tran,V.H., Matsui,H., Bhatia,A.,
            Naeem,M.A., Akram,S.J., Akram,J., Riazuddin,S., Ayuso,C.,
            Pierce,E.A., Hardcastle,A.J., Riazuddin,S.A., Frazer,K.A.,
            Hejtmancik,J.F., Rivolta,C., Bujakowska,K.M., Arno,G., Webster,A.R.
            and Ayyagari,R.
  TITLE     Substitution of a single non-coding nucleotide upstream of TMEM216
            causes non-syndromic retinitis pigmentosa and is associated with
            reduced TMEM216 expression
  JOURNAL   Am J Hum Genet 111 (9), 2012-2030 (2024)
   PUBMED   39191256
  REMARK    GeneRIF: Substitution of a single non-coding nucleotide upstream of
            TMEM216 causes non-syndromic retinitis pigmentosa and is associated
            with reduced TMEM216 expression.
REFERENCE   2  (bases 1 to 1053)
  AUTHORS   D'Angelo,L., Astro,E., De Luise,M., Kurelac,I., Umesh-Ganesh,N.,
            Ding,S., Fearnley,I.M., Gasparre,G., Zeviani,M., Porcelli,A.M.,
            Fernandez-Vizarra,E. and Iommarini,L.
  TITLE     NDUFS3 depletion permits complex I maturation and reveals
            TMEM126A/OPA7 as an assembly factor binding the ND4-module
            intermediate
  JOURNAL   Cell Rep 35 (3), 109002 (2021)
   PUBMED   33882309
REFERENCE   3  (bases 1 to 1053)
  AUTHORS   Lambacher,N.J., Bruel,A.L., van Dam,T.J., Szymanska,K.,
            Slaats,G.G., Kuhns,S., McManus,G.J., Kennedy,J.E., Gaff,K.,
            Wu,K.M., van der Lee,R., Burglen,L., Doummar,D., Riviere,J.B.,
            Faivre,L., Attie-Bitach,T., Saunier,S., Curd,A., Peckham,M.,
            Giles,R.H., Johnson,C.A., Huynen,M.A., Thauvin-Robinet,C. and
            Blacque,O.E.
  TITLE     TMEM107 recruits ciliopathy proteins to subdomains of the ciliary
            transition zone and causes Joubert syndrome
  JOURNAL   Nat Cell Biol 18 (1), 122-131 (2016)
   PUBMED   26595381
REFERENCE   4  (bases 1 to 1053)
  AUTHORS   Venkatesh,B., Ravi,V., Lee,A.P., Warren,W.C. and Brenner,S.
  TITLE     Basal vertebrates clarify the evolutionary history of
            ciliopathy-associated genes Tmem138 and Tmem216
  JOURNAL   Mol Biol Evol 30 (1), 62-65 (2013)
   PUBMED   22936720
REFERENCE   5  (bases 1 to 1053)
  AUTHORS   Edvardson,S., Shaag,A., Zenvirt,S., Erlich,Y., Hannon,G.J.,
            Shanske,A.L., Gomori,J.M., Ekstein,J. and Elpeleg,O.
  TITLE     Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a
            TMEM216 mutation
  JOURNAL   Am J Hum Genet 86 (1), 93-97 (2010)
   PUBMED   20036350
  REMARK    GeneRIF: a TMEM216 mutation may have a role in Joubert syndrome 2
            (JBTS2) in Ashkenazi Jews
            Erratum:[Am J Hum Genet. 2010 Feb;86(2):294. Shanske, Alan L
            [added]]
REFERENCE   6  (bases 1 to 1053)
  AUTHORS   Keeler,L.C., Marsh,S.E., Leeflang,E.P., Woods,C.G., Sztriha,L.,
            Al-Gazali,L., Gururaj,A. and Gleeson,J.G.
  TITLE     Linkage analysis in families with Joubert syndrome plus oculo-renal
            involvement identifies the CORS2 locus on chromosome 11p12-q13.3
  JOURNAL   Am J Hum Genet 73 (3), 656-662 (2003)
   PUBMED   12917796
REFERENCE   7  (bases 1 to 1053)
  AUTHORS   Valente,E.M., Salpietro,D.C., Brancati,F., Bertini,E.,
            Galluccio,T., Tortorella,G., Briuglia,S. and Dallapiccola,B.
  TITLE     Description, nomenclature, and mapping of a novel cerebello-renal
            syndrome with the molar tooth malformation
  JOURNAL   Am J Hum Genet 73 (3), 663-670 (2003)
   PUBMED   12908130
REFERENCE   8  (bases 1 to 1053)
  AUTHORS   Roume,J., Genin,E., Cormier-Daire,V., Ma,H.W., Mehaye,B., Attie,T.,
            Razavi-Encha,F., Fallet-Bianco,C., Buenerd,A., Clerget-Darpoux,F.,
            Munnich,A. and Le Merrer,M.
  TITLE     A gene for Meckel syndrome maps to chromosome 11q13
  JOURNAL   Am J Hum Genet 63 (4), 1095-1101 (1998)
   PUBMED   9758620
REFERENCE   9  (bases 1 to 1053)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 1053)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK303687.1, AP003108.3 and
            AA022661.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001173990.2.
            
            Summary: This locus encodes a transmembrane domain-containing
            protein. Mutations at this locus have been associated with
            Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known
            as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010].
            
            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 :: SRR5189667.389487.1,
                                           SRR1163658.302095.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000515837.7/ ENSP00000440638.1
            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
            1-716               AK303687.1         228-943
            717-1048            AP003108.3         70698-71029
            1049-1053           AA022661.1         19-23               c
FEATURES             Location/Qualifiers
     source          1..1053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..1053
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /note="transmembrane protein 216"
                     /db_xref="GeneID:51259"
                     /db_xref="HGNC:HGNC:25018"
                     /db_xref="MIM:613277"
     exon            1..79
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..483
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 216 isoform 2"
                     /protein_id="NP_001167461.1"
                     /db_xref="CCDS:CCDS53640.1"
                     /db_xref="GeneID:51259"
                     /db_xref="HGNC:HGNC:25018"
                     /db_xref="MIM:613277"
                     /translation="MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLY
                     KGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMM
                     ASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI"
     exon            80..181
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /inference="alignment:Splign:2.1.0"
     exon            182..274
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /inference="alignment:Splign:2.1.0"
     exon            275..476
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /inference="alignment:Splign:2.1.0"
     exon            477..1053
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1032..1037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /note="hexamer: AATAAA"
     polyA_site      1053
                     /gene="TMEM216"
                     /gene_synonym="HSPC244; RP98"
                     /note="major polyA site"
ORIGIN      
        1 gtttccggca gcgccgcgct gctccgggag ccgctgtggc agcgtatgct gccacgggga
       61 ctgaagatgg cgccgcgagg taaacggttg tcctccaccc cgctggaaat cctgttcttt
      121 ctgaacgggt ggtataatgc tacctatttc ctgctggaac ttttcatatt tctgtataaa
      181 ggtgtcctgc taccatatcc aacagctaac ctagtactgg atgtggtgat gctcctcctt
      241 tatcttggaa ttgaagtaat tcgcctgttt tttggtacaa agggaaacct ctgccagcga
      301 aagatgccgc tcagtattag cgtggccttg accttcccat ctgccatgat ggcctcctat
      361 tacctgctgc tgcagaccta cgtactccgc ctggaagcca tcatgaatgg catcttgctc
      421 ttcttctgtg gctcagagct tttacttgag gtgctcacct tggctgcttt ctccaggatt
      481 tgaagtacag aatttcagcc agcagcccat caggctgaca ccacacatat tgcttctggt
      541 actttagcca caccagtgag aattggtggg gcaagttgtc ctgagaaagg ctgtgtggct
      601 tttcttcagc acagacattt gggcaagcaa ctcagcataa ggccagtggg taccatcttc
      661 taaaccagga ccatcagccc aagagactct tctacactcc agtataggga ggggcaaggt
      721 tattcccatc ctgccccttc tcagaaccag tcccctgctg acctcaagtt ctcctccttg
      781 atcaccgtgg ccagagcatc tcgtgtggac catctaggct ccttgggctt caagcaggac
      841 ctgagccaca tgctccctgt acgagctgtg ctatacctgt cccacatgag cacggagagc
      901 ctcatgttgg tgggtttcca gagtgatgtg aaagcctctc accccaatcc tcggagactg
      961 agttccacaa cttttttagt agctcatagt gttatttttc tactctcttc atgaaactaa
     1021 ctttatttta taataaatat gtattttctg ttg
//
