LOCUS       NM_012338               2585 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens tetraspanin 12 (TSPAN12), mRNA.
ACCESSION   NM_012338
VERSION     NM_012338.4
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 2585)
  AUTHORS   Ju,Y., Chen,T., Ruan,L., Zhao,Y., Chang,Q. and Huang,X.
  TITLE     Mutations in TSPAN12 gene causing familial exudative
            vitreoretinopathy
  JOURNAL   Hum Genomics 18 (1), 22 (2024)
   PUBMED   38424652
  REMARK    GeneRIF: Mutations in TSPAN12 gene causing familial exudative
            vitreoretinopathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2585)
  AUTHORS   Li,B., Xiong,X., Xu,J., Peng,D., Nie,G., Wen,N., Wang,Y. and Lu,J.
  TITLE     METTL3-mediated m6A modification of lncRNA TSPAN12 promotes
            metastasis of hepatocellular carcinoma through SENP1-depentent
            deSUMOylation of EIF3I
  JOURNAL   Oncogene 43 (14), 1050-1062 (2024)
   PUBMED   38374407
  REMARK    GeneRIF: METTL3-mediated m[6]A modification of lncRNA TSPAN12
            promotes metastasis of hepatocellular carcinoma through
            SENP1-depentent deSUMOylation of EIF3I.
REFERENCE   3  (bases 1 to 2585)
  AUTHORS   Wang,Y., Lai,Y., Jiang,Z., Li,S. and Ding,X.
  TITLE     Five novel dysfunctional variants in the TSPAN12 gene in familial
            exudative vitreoretinopathy
  JOURNAL   Exp Eye Res 234, 109574 (2023)
   PUBMED   37451565
  REMARK    GeneRIF: Five novel dysfunctional variants in the TSPAN12 gene in
            familial exudative vitreoretinopathy.
REFERENCE   4  (bases 1 to 2585)
  AUTHORS   Wang,Y., Wang,Q., Li,S. and Ding,X.
  TITLE     Identification of Five Novel Variants in the TSPAN12 Gene in
            Chinese Families With Familial Exudative Vitreoretinopathy
  JOURNAL   Transl Vis Sci Technol 12 (5), 29 (2023)
   PUBMED   37252707
  REMARK    GeneRIF: Identification of Five Novel Variants in the TSPAN12 Gene
            in Chinese Families With Familial Exudative Vitreoretinopathy.
REFERENCE   5  (bases 1 to 2585)
  AUTHORS   Jiang,Z. and Wang,P.
  TITLE     Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR
            Family: A Case Report and Literature Review
  JOURNAL   Genes (Basel) 14 (3), 587 (2023)
   PUBMED   36980859
  REMARK    GeneRIF: Novel Exon 7 Deletions in TSPAN12 in a Three-Generation
            FEVR Family: A Case Report and Literature Review.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2585)
  AUTHORS   Maestrini,E., Pagnamenta,A.T., Lamb,J.A., Bacchelli,E., Sykes,N.H.,
            Sousa,I., Toma,C., Barnby,G., Butler,H., Winchester,L.,
            Scerri,T.S., Minopoli,F., Reichert,J., Cai,G., Buxbaum,J.D.,
            Korvatska,O., Schellenberg,G.D., Dawson,G., de Bildt,A.,
            Minderaa,R.B., Mulder,E.J., Morris,A.P., Bailey,A.J. and
            Monaco,A.P.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2585)
  AUTHORS   Xu,D., Sharma,C. and Hemler,M.E.
  TITLE     Tetraspanin12 regulates ADAM10-dependent cleavage of amyloid
            precursor protein
  JOURNAL   FASEB J 23 (11), 3674-3681 (2009)
   PUBMED   19587294
  REMARK    GeneRIF: TSPAN12 serves as a novel and robust partner for ADAM10
            and promotes ADAM10 maturation, thereby facilitating
            ADAM10-dependent proteolysis of APP.
REFERENCE   8  (bases 1 to 2585)
  AUTHORS   Berditchevski,F.
  TITLE     Complexes of tetraspanins with integrins: more than meets the eye
  JOURNAL   J Cell Sci 114 (Pt 23), 4143-4151 (2001)
   PUBMED   11739647
  REMARK    Review article
REFERENCE   9  (bases 1 to 2585)
  AUTHORS   Serru,V., Dessen,P., Boucheix,C. and Rubinstein,E.
  TITLE     Sequence and expression of seven new tetraspans
  JOURNAL   Biochim Biophys Acta 1478 (1), 159-163 (2000)
   PUBMED   10719184
REFERENCE   10 (bases 1 to 2585)
  AUTHORS   Toomes,C. and Downey,L.
  TITLE     Familial Exudative Vitreoretinopathy, Autosomal Dominant - 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   20301326
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004456.1, BI964728.1,
            AY358703.1 and BF338835.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_012338.3.
            
            Summary: The protein encoded by this gene is a member of the
            transmembrane 4 superfamily, also known as the tetraspanin family.
            Most of these members are cell-surface proteins that are
            characterized by the presence of four hydrophobic domains. The
            proteins mediate signal transduction events that play a role in the
            regulation of cell development, activation, growth and motility.
            [provided by RefSeq, Jul 2008].
            
            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 :: AY358703.1, SRR3476690.754286.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222747.8/ ENSP00000222747.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                AC004456.1         84280-84300         c
            22-219              BI964728.1         2-199
            220-1159            AY358703.1         32-971
            1160-1583           BF338835.1         215-638
            1584-2585           AY358703.1         1396-2397
FEATURES             Location/Qualifiers
     source          1..2585
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.31"
     gene            1..2585
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /note="tetraspanin 12"
                     /db_xref="GeneID:23554"
                     /db_xref="HGNC:HGNC:21641"
                     /db_xref="MIM:613138"
     exon            1..325
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     exon            326..461
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     CDS             396..1313
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /note="transmembrane 4 superfamily member 12; tetraspan
                     NET-2; tspan-12"
                     /codon_start=1
                     /product="tetraspanin-12"
                     /protein_id="NP_036470.1"
                     /db_xref="CCDS:CCDS5777.1"
                     /db_xref="GeneID:23554"
                     /db_xref="HGNC:HGNC:21641"
                     /db_xref="MIM:613138"
                     /translation="MAREDSVKCLRCLLYALNLLFWLMSISVLAVSAWMRDYLNNVLT
                     LTAETRVEEAVILTYFPVVHPVMIAVCCFLIIVGMLGYCGTVKRNLLLLAWYFGSLLV
                     IFCVELACGVWTYEQELMVPVQWSDMVTLKARMTNYGLPRYRWLTHAWNFFQREFKCC
                     GVVYFTDWLEMTEMDWPPDSCCVREFPGCSKQAHQEDLSDLYQEGCGKKMYSFLRGTK
                     QLQVLRFLGISIGVTQILAMILTITLLWALYYDRREPGTDQMMSLKNDNSQHLSCPSV
                     ELLKPSLSRIFEHTSMANSFNTHFEMEEL"
     exon            462..544
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     exon            545..680
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     exon            681..755
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     exon            756..863
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     exon            864..1007
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..2585
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2563..2568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /note="hexamer: AATAAA"
     polyA_site      2585
                     /gene="TSPAN12"
                     /gene_synonym="EVR5; NET-2; NET2; TM4SF12"
                     /note="major polyA site"
ORIGIN      
        1 gcgctgagag tttgtgcagc tggccctggc tgccgccgct gcctcgtccg gactcggaga
       61 ggacttggga gggacagcgg cgctgggagg tggcttagca gagactttcc agcaactgct
      121 gcccaggact tttttttttt tttttctttt tcccaggagg cggcgacggc ggcggcgggg
      181 ggagaggaag agaaagaagc gtctccagct gaagccaatg cagccctccg gctctccgcg
      241 aagaagttcc ctgccccgat gagcccccgc cgtgcgtccc cgactatccc caggcgggcg
      301 tggggcaccg ggcccagcgc cgacgatcgc tgccgttttg cccttgggag taggatgtgg
      361 tgaaaggatg gggcttctcc cttacggggc tcacaatggc cagagaagat tccgtgaagt
      421 gtctgcgctg cctgctctac gccctcaatc tgctcttttg gttaatgtcc atcagtgtgt
      481 tggcagtttc tgcttggatg agggactacc taaataatgt tctcacttta actgcagaaa
      541 cgagggtaga ggaagcagtc attttgactt actttcctgt ggttcatccg gtcatgattg
      601 ctgtttgctg tttccttatc attgtgggga tgttaggata ttgtggaacg gtgaaaagaa
      661 atctgttgct tcttgcatgg tactttggaa gtttgcttgt cattttctgt gtagaactgg
      721 cttgtggcgt ttggacatat gaacaggaac ttatggttcc agtacaatgg tcagatatgg
      781 tcactttgaa agccaggatg acaaattatg gattacctag atatcggtgg cttactcatg
      841 cttggaattt ttttcagaga gagtttaagt gctgtggagt agtatatttc actgactggt
      901 tggaaatgac agagatggac tggcccccag attcctgctg tgttagagaa ttcccaggat
      961 gttccaaaca ggcccaccag gaagatctca gtgaccttta tcaagagggt tgtgggaaga
     1021 aaatgtattc ctttttgaga ggaaccaaac aactgcaggt gctgaggttt ctgggaatct
     1081 ccattggggt gacacaaatc ctggccatga ttctcaccat tactctgctc tgggctctgt
     1141 attatgatag aagggagccg gggacagacc aaatgatgtc cttgaagaat gacaactctc
     1201 agcacctgtc atgtccctca gtagaactgt tgaaaccaag cctgtcaaga atctttgaac
     1261 acacatccat ggcaaacagc tttaatacac actttgagat ggaggagtta taaaaagaaa
     1321 tgtcacagaa gaaaaccaca aacttgtttt actggacttg tgaatttttg agtacatact
     1381 atgtgtttca gaaatatgta gaaataaaaa tgttgccata aaataacacc taagcatata
     1441 ctattctatg ctttaaaatg aggatggaaa agtttcatgt cataagtcac cacctggaca
     1501 ataattgatg cccttaaaat gctgaagaca gatgtcatac ccactgtgta gcctgtgtat
     1561 gacttttact gaacacagtt atgttttgag gcagcatggt ttgattagca tttccgcatc
     1621 catgcaaacg agtcacatat ggtgggactg gagccatagt aaaggttgat ttacttctac
     1681 caactagtat ataaagtact aattaaatgc taacatagga agttagaaaa tactaataac
     1741 ttttattact cagcgatcta ttcttctgat gctaaataaa ttatatatca gaaaactttc
     1801 aatattggtg actacctaaa tgtgattttt gctggttact aaaatattct taccacttaa
     1861 aagagcaagc taacacattg tcttaagctg atcagggatt ttttgtatat aagtctgtgt
     1921 taaatctgta taattcagtc gatttcagtt ctgataatgt taagaataac cattatgaaa
     1981 aggaaaattt gtcctgtata gcatcattat ttttagcctt tcctgttaat aaagctttac
     2041 tattctgtcc tgggcttata ttacacatat aactgttatt taaatactta accactaatt
     2101 ttgaaaatta ccagtgtgat acataggaat cattattcag aatgtagtct ggtctttagg
     2161 aagtattaat aagaaaattt gcacataact tagttgattc agaaaggact tgtatgctgt
     2221 ttttctccca aatgaagact ctttttgaca ctaaacactt tttaaaaagc ttatctttgc
     2281 cttctccaaa caagaagcaa tagtctccaa gtcaatataa attctacaga aaatagtgtt
     2341 ctttttctcc agaaaaatgc ttgtgagaat cattaaaaca tgtgacaatt tagagattct
     2401 ttgttttatt tcactgatta atatactgtg gcaaattaca cagattatta aattttttta
     2461 caagagtata gtatatttat ttgaaatggg aaaagtgcat tttactgtat tttgtgtatt
     2521 ttgtttattt ctcagaatat ggaaagaaaa ttaaaatgtg tcaataaata ttttctagag
     2581 agtaa
//
