LOCUS       NM_001114748            1381 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 240 (TMEM240), mRNA.
ACCESSION   NM_001114748 XM_001714132 XM_001714140 XM_294960
VERSION     NM_001114748.2
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 1381)
  AUTHORS   Sorrentino,U., Romito,L.M., Garavaglia,B., Fichera,M.,
            Colangelo,I., Prokisch,H., Winkelmann,J., Necpal,J., Jech,R. and
            Zech,M.
  TITLE     Myoclonus and Dystonia as Recurrent Presenting Features in Patients
            with the SCA21-Associated TMEM240 p.Pro170Leu Variant
  JOURNAL   Tremor Other Hyperkinet Mov (N Y) 14, 16 (2024)
   PUBMED   38617829
  REMARK    GeneRIF: Myoclonus and Dystonia as Recurrent Presenting Features in
            Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1381)
  AUTHORS   Lin,R.K., Su,C.M., Lin,S.Y., Thi Anh Thu,L., Liew,P.L., Chen,J.Y.,
            Tzeng,H.E., Liu,Y.R., Chang,T.H., Lee,C.Y. and Hung,C.S.
  TITLE     Hypermethylation of TMEM240 predicts poor hormone therapy response
            and disease progression in breast cancer
  JOURNAL   Mol Med 28 (1), 67 (2022)
   PUBMED   35715741
  REMARK    GeneRIF: Hypermethylation of TMEM240 predicts poor hormone therapy
            response and disease progression in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1381)
  AUTHORS   Hu,Q., Wang,G., Chen,X., Zhang,L., Zhao,W., Jiang,Y., Zhang,C.,
            Sun,J., Xu,H., Li,H., Kong,Q., Zhao,J., Li,X., Zhang,X., Lv,W.,
            Liu,Y., Yang,G., Mu,L. and Wang,J.
  TITLE     Neural-specific distribution of transmembrane protein TMEM240 and
            formation of TMEM240-Body
  JOURNAL   Int J Biol Macromol 161, 692-703 (2020)
   PUBMED   32535204
  REMARK    GeneRIF: Neural-specific distribution of transmembrane protein
            TMEM240 and formation of TMEM240-Body.
REFERENCE   4  (bases 1 to 1381)
  AUTHORS   Homa,M., Loyens,A., Eddarkaoui,S., Faivre,E., Deramecourt,V.,
            Maurage,C.A., Buee,L., Huin,V. and Sablonniere,B.
  TITLE     The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje
            Cells and Synaptic Terminals
  JOURNAL   Cerebellum 19 (3), 358-369 (2020)
   PUBMED   32002801
  REMARK    GeneRIF: The TMEM240 Protein, Mutated in SCA21, Is Expressed in
            Purkinje Cells and Synaptic Terminals.
REFERENCE   5  (bases 1 to 1381)
  AUTHORS   Chang,S.C., Liew,P.L., Ansar,M., Lin,S.Y., Wang,S.C., Hung,C.S.,
            Chen,J.Y., Jain,S. and Lin,R.K.
  TITLE     Hypermethylation and decreased expression of TMEM240 are potential
            early-onset biomarkers for colorectal cancer detection, poor
            prognosis, and early recurrence prediction
  JOURNAL   Clin Epigenetics 12 (1), 67 (2020)
   PUBMED   32398064
  REMARK    GeneRIF: Hypermethylation and decreased expression of TMEM240 are
            potential early-onset biomarkers for colorectal cancer detection,
            poor prognosis, and early recurrence prediction.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1381)
  AUTHORS   Delplanque,J., Devos,D., Huin,V., Genet,A., Sand,O., Moreau,C.,
            Goizet,C., Charles,P., Anheim,M., Monin,M.L., Buee,L., Destee,A.,
            Grolez,G., Delmaire,C., Dujardin,K., Dellacherie,D., Brice,A.,
            Stevanin,G., Strubi-Vuillaume,I., Durr,A. and Sablonniere,B.
  TITLE     TMEM240 mutations cause spinocerebellar ataxia 21 with mental
            retardation and severe cognitive impairment
  JOURNAL   Brain 137 (Pt 10), 2657-2663 (2014)
   PUBMED   25070513
  REMARK    GeneRIF: The causative mutation of spinocerebellar ataxia 21 is the
            transmembrane protein gene TMEM240
REFERENCE   7  (bases 1 to 1381)
  AUTHORS   Brusco,A., Gellera,C., Cagnoli,C., Saluto,A., Castucci,A.,
            Michielotto,C., Fetoni,V., Mariotti,C., Migone,N., Di Donato,S. and
            Taroni,F.
  TITLE     Molecular genetics of hereditary spinocerebellar ataxia: mutation
            analysis of spinocerebellar ataxia genes and CAG/CTG repeat
            expansion detection in 225 Italian families
  JOURNAL   Arch Neurol 61 (5), 727-733 (2004)
   PUBMED   15148151
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1381)
  AUTHORS   Vuillaume,I., Devos,D., Schraen-Maschke,S., Dina,C., Lemainque,A.,
            Vasseur,F., Bocquillon,G., Devos,P., Kocinski,C., Marzys,C.,
            Destee,A. and Sablonniere,B.
  TITLE     A new locus for spinocerebellar ataxia (SCA21) maps to chromosome
            7p21.3-p15.1
  JOURNAL   Ann Neurol 52 (5), 666-670 (2002)
   PUBMED   12402269
  REMARK    GeneRIF: A new locus for spinocerebellar ataxia (SCA21) maps to
            chromosome 7p21.3-p15.1.
REFERENCE   9  (bases 1 to 1381)
  AUTHORS   Devos,D., Schraen-Maschke,S., Vuillaume,I., Dujardin,K., Naze,P.,
            Willoteaux,C., Destee,A. and Sablonniere,B.
  TITLE     Clinical features and genetic analysis of a new form of
            spinocerebellar ataxia
  JOURNAL   Neurology 56 (2), 234-238 (2001)
   PUBMED   11160961
REFERENCE   10 (bases 1 to 1381)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645728.31, EG328560.1,
            BU929336.1 and BF446167.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001114748.1.
            
            Summary: This gene encodes a transmembrane-domain containing
            protein found in the brain and cerebellum. Mutations in this gene
            result in spinocerebellar ataxia 21. [provided by RefSeq, Dec
            2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: BU929336.1, HY140463.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378733.9/ ENSP00000368007.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-264               AL645728.31        40547-40810
            265-289             EG328560.1         145-169             c
            290-857             BU929336.1         7-574
            858-1367            AL645728.31        45870-46379
            1368-1381           BF446167.1         12-25               c
FEATURES             Location/Qualifiers
     source          1..1381
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..1381
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /note="transmembrane protein 240"
                     /db_xref="GeneID:339453"
                     /db_xref="HGNC:HGNC:25186"
                     /db_xref="MIM:616101"
     exon            1..335
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /inference="alignment:Splign:2.1.0"
     CDS             279..800
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /note="transmembrane protein C1orf70"
                     /codon_start=1
                     /product="transmembrane protein 240"
                     /protein_id="NP_001108220.1"
                     /db_xref="CCDS:CCDS44040.1"
                     /db_xref="GeneID:339453"
                     /db_xref="HGNC:HGNC:25186"
                     /db_xref="MIM:616101"
                     /translation="MSMSANTMIFMILGASVVMAIACLMDMNALLDRFHNYILPHLRG
                     EDRVCHCNCGRHHIHYVIPYDGDQSVVDASENYFVTDSVTKQEIDLMLGLLLGFCISW
                     FLVWMDGVLHCAVRAWRAGRRYDGSWTWLPKLCSLRELGRRPHRPFEEAAGNMVHVKQ
                     KLYHNGHPSPRHL"
     exon            336..442
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /inference="alignment:Splign:2.1.0"
     exon            443..651
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /inference="alignment:Splign:2.1.0"
     exon            652..1381
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1359..1364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /note="hexamer: AGTAAA"
     polyA_site      1381
                     /gene="TMEM240"
                     /gene_synonym="C1orf70; SCA21"
                     /note="major polyA site"
ORIGIN      
        1 gagtcgagcc gagccgagcg catcgcaggg aggacccgag ggcggagcgg agcgcggcgg
       61 gccgggccga gagaccccag aaaggccccg cgtccctccc cggcgccccc ccccccgcgc
      121 ctcctccccc cggccggtgc cggggttgca gcgagcggcg gcggacgatc cagggaagcg
      181 ctgacctctg cggaggcggc gggggctcag catcgggccg gggccggggg ggcgccgggg
      241 ccggggggcg gcgctccggc ccggcccggc cccgcccgat gtccatgagc gcgaacacca
      301 tgatcttcat gattctgggg gcgtcggtcg tgatggccat cgcgtgcttg atggacatga
      361 acgcgctgct ggaccgattc cacaactaca tcctcccgca cctgcggggc gaggaccgcg
      421 tctgccactg caactgtggc cggcaccata tccactacgt gatcccgtac gacggggacc
      481 agtcggtggt ggacgcctcc gagaactact ttgtgacgga cagtgtgacc aagcaggaga
      541 tcgacctcat gctggggctg ctgctgggct tttgcatcag ctggttcctg gtgtggatgg
      601 acggcgtcct gcactgcgcc gtgcgcgcct ggagagccgg acggcgctac gatggctcgt
      661 ggacctggct gcccaagctg tgcagcctgc gggagctggg ccggcggccg cacaggccct
      721 tcgaggaggc cgccgggaac atggtacacg tgaagcagaa actctaccac aatggccacc
      781 ccagcccgcg gcacctgtga gccgcacggg gacttaccgg ggccaccgag ccaaccggct
      841 gctgtacaga tgtaaaaggg acctcgtgga cgcccgggcc ggcgggactg gacagcagcc
      901 ctgggcccag gttgtccggg gctgtggccg gccgggagag tccagtggaa ggtgctgtct
      961 cttcttttta taaagggggt tggggtgtgg gctagggtgg gggttgggtt aggggagacc
     1021 ctgcagttgg ggggcaggac acaagggcgg actcatcccc agcggtgctg gggggcaggg
     1081 agggtcctgg ggggcaggga gggtcctggg gggcaggtgg gggcaggggc ggcgaggcgc
     1141 gcggcccggg ccagcatctg tttgaaggcg ctgtttcccg tgcgctgcgt ccaccgtctg
     1201 tctggcccca gccagcttgg gcggagggga ggggggcgag gggagcaccc gcgtgtgcac
     1261 agccacaggg tggggtgcag gtggctgggc ccaggcagca ttcaggcccc tggccccgca
     1321 gtggcgggca ctcatgtgaa gcccacccct ctgtggtcag taaattctcc agaaagcgcc
     1381 a
//
