LOCUS       NM_207506               2186 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens sterile alpha motif domain containing 12 (SAMD12),
            transcript variant 2, mRNA.
ACCESSION   NM_207506
VERSION     NM_207506.3
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 2186)
  AUTHORS   Hu,J., Xie,C., Xu,S., Pu,Q., Liu,H., Yang,L., Wang,W., Mao,L.,
            Li,Z. and Chen,W.
  TITLE     Liver fibrosis-derived exosomal miR-106a-5p facilitates the
            malignancy by targeting SAMD12 and CADM2 in hepatocellular
            carcinoma
  JOURNAL   PLoS One 18 (5), e0286017 (2023)
   PUBMED   37228062
  REMARK    GeneRIF: Liver fibrosis-derived exosomal miR-106a-5p facilitates
            the malignancy by targeting SAMD12 and CADM2 in hepatocellular
            carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2186)
  AUTHORS   Terasaki,A., Nakamura,M., Urata,Y., Hiwatashi,H., Yokoyama,I.,
            Yasuda,T., Onuma,T., Wada,K., Kaneko,S., Kan,R., Niwa,S.I.,
            Hashimoto,O., Komure,O., Goto,Y.I., Yamagishi,Y., Nakano,M.,
            Furusawa,Y. and Sano,A.
  TITLE     DNA analysis of benign adult familial myoclonic epilepsy reveals
            associations between the pathogenic TTTCA repeat insertion in
            SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A
  JOURNAL   J Hum Genet 66 (4), 419-429 (2021)
   PUBMED   33040085
  REMARK    GeneRIF: DNA analysis of benign adult familial myoclonic epilepsy
            reveals associations between the pathogenic TTTCA repeat insertion
            in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
            Erratum:[J Hum Genet. 2021 Apr;66(4):449-450. doi:
            10.1038/s10038-020-00867-w.. PMID: 33184460]
REFERENCE   3  (bases 1 to 2186)
  AUTHORS   Zhou,Y., Sood,R., Wang,Q., Carrington,B., Park,M., Young,A.C.,
            Birnbaum,D., Liu,Z., Ashizawa,T., Mullikin,J.C., Koubeissi,M.Z. and
            Liu,P.
  TITLE     Clinical and genomic analysis of a large Chinese family with
            familial cortical myoclonic tremor with epilepsy and SAMD12
            intronic repeat expansion
  JOURNAL   Epilepsia Open 6 (1), 102-111 (2021)
   PUBMED   33681653
  REMARK    GeneRIF: Clinical and genomic analysis of a large Chinese family
            with familial cortical myoclonic tremor with epilepsy and SAMD12
            intronic repeat expansion.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2186)
  AUTHORS   Yeetong,P., Chunharas,C., Pongpanich,M., Bennett,M.F.,
            Srichomthong,C., Pasutharnchat,N., Suphapeetiporn,K., Bahlo,M. and
            Shotelersuk,V.
  TITLE     Founder effect of the TTTCA repeat insertions in SAMD12 causing
            BAFME1
  JOURNAL   Eur J Hum Genet 29 (2), 343-348 (2021)
   PUBMED   32973343
  REMARK    GeneRIF: Founder effect of the TTTCA repeat insertions in SAMD12
            causing BAFME1.
REFERENCE   5  (bases 1 to 2186)
  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   6  (bases 1 to 2186)
  AUTHORS   Zeng,S., Zhang,M.Y., Wang,X.J., Hu,Z.M., Li,J.C., Li,N., Wang,J.L.,
            Liang,F., Yang,Q., Liu,Q., Fang,L., Hao,J.W., Shi,F.D., Ding,X.B.,
            Teng,J.F., Yin,X.M., Jiang,H., Liao,W.P., Liu,J.Y., Wang,K., Xia,K.
            and Tang,B.S.
  TITLE     Long-read sequencing identified intronic repeat expansions in
            SAMD12 from Chinese pedigrees affected with familial cortical
            myoclonic tremor with epilepsy
  JOURNAL   J Med Genet 56 (4), 265-270 (2019)
   PUBMED   30194086
  REMARK    GeneRIF: We identified the pentanucleotide repeat expansion in
            SAMD12 as the causative mutation in Chinese FCMTE pedigrees.
REFERENCE   7  (bases 1 to 2186)
  AUTHORS   Ishiura,H., Doi,K., Mitsui,J., Yoshimura,J., Matsukawa,M.K.,
            Fujiyama,A., Toyoshima,Y., Kakita,A., Takahashi,H., Suzuki,Y.,
            Sugano,S., Qu,W., Ichikawa,K., Yurino,H., Higasa,K., Shibata,S.,
            Mitsue,A., Tanaka,M., Ichikawa,Y., Takahashi,Y., Date,H.,
            Matsukawa,T., Kanda,J., Nakamoto,F.K., Higashihara,M., Abe,K.,
            Koike,R., Sasagawa,M., Kuroha,Y., Hasegawa,N., Kanesawa,N.,
            Kondo,T., Hitomi,T., Tada,M., Takano,H., Saito,Y., Sanpei,K.,
            Onodera,O., Nishizawa,M., Nakamura,M., Yasuda,T., Sakiyama,Y.,
            Otsuka,M., Ueki,A., Kaida,K.I., Shimizu,J., Hanajima,R.,
            Hayashi,T., Terao,Y., Inomata-Terada,S., Hamada,M., Shirota,Y.,
            Kubota,A., Ugawa,Y., Koh,K., Takiyama,Y., Ohsawa-Yoshida,N.,
            Ishiura,S., Yamasaki,R., Tamaoka,A., Akiyama,H., Otsuki,T.,
            Sano,A., Ikeda,A., Goto,J., Morishita,S. and Tsuji,S.
  TITLE     Expansions of intronic TTTCA and TTTTA repeats in benign adult
            familial myoclonic epilepsy
  JOURNAL   Nat Genet 50 (4), 581-590 (2018)
   PUBMED   29507423
  REMARK    GeneRIF: Abnormal expansions of TTTCA and TTTTA repeats in intron 4
            of SAMD12 cause benign adult familial myoclonic epilepsy.
            Single-molecule, real-time sequencing of BAC clones and nanopore
            sequencing of genomic DNA identified two repeat configurations in
            SAMD12.
REFERENCE   8  (bases 1 to 2186)
  AUTHORS   Gourraud,P.A., Sdika,M., Khankhanian,P., Henry,R.G., Beheshtian,A.,
            Matthews,P.M., Hauser,S.L., Oksenberg,J.R., Pelletier,D. and
            Baranzini,S.E.
  TITLE     A genome-wide association study of brain lesion distribution in
            multiple sclerosis
  JOURNAL   Brain 136 (Pt 4), 1012-1024 (2013)
   PUBMED   23412934
REFERENCE   9  (bases 1 to 2186)
  AUTHORS   Washietl,S., Pedersen,J.S., Korbel,J.O., Stocsits,C., Gruber,A.R.,
            Hackermuller,J., Hertel,J., Lindemeyer,M., Reiche,K., Tanzer,A.,
            Ucla,C., Wyss,C., Antonarakis,S.E., Denoeud,F., Lagarde,J.,
            Drenkow,J., Kapranov,P., Gingeras,T.R., Guigo,R., Snyder,M.,
            Gerstein,M.B., Reymond,A., Hofacker,I.L. and Stadler,P.F.
  TITLE     Structured RNAs in the ENCODE selected regions of the human genome
  JOURNAL   Genome Res 17 (6), 852-864 (2007)
   PUBMED   17568003
REFERENCE   10 (bases 1 to 2186)
  AUTHORS   Mikami,M., Yasuda,T., Terao,A., Nakamura,M., Ueno,S., Tanabe,H.,
            Tanaka,T., Onuma,T., Goto,Y., Kaneko,S. and Sano,A.
  TITLE     Localization of a gene for benign adult familial myoclonic epilepsy
            to chromosome 8q23.3-q24.1
  JOURNAL   Am J Hum Genet 65 (3), 745-751 (1999)
   PUBMED   10441581
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003468.2, DA335826.1, AK096777.1, BC121818.1 and AC023590.8.
            
            On May 21, 2020 this sequence version replaced NM_207506.2.
            
            Transcript Variant: This variant (2) encodes the longest isoform
            (b).
            
            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 :: AK096777.1, SRR14038192.4134423.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314727.9/ ENSP00000314173.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AP003468.2         79370-79387         c
            19-82               DA335826.1         1-64
            83-660              AK096777.1         1-578
            661-1028            BC121818.1         576-943
            1029-1434           AK096777.1         947-1352
            1435-1435           AC023590.8         32928-32928
            1436-2182           AK096777.1         1354-2100
            2183-2186           AC023590.8         33676-33679
FEATURES             Location/Qualifiers
     source          1..2186
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.11-q24.12"
     gene            1..2186
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /note="sterile alpha motif domain containing 12"
                     /db_xref="GeneID:401474"
                     /db_xref="HGNC:HGNC:31750"
                     /db_xref="MIM:618073"
     exon            1..160
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..753
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /note="isoform b is encoded by transcript variant 2;
                     sterile alpha motif domain-containing protein 12; SAM
                     domain-containing protein 12; familial adult myoclonic
                     epilepsy 1; benign adult familial myoclonic epilepsy 1;
                     myoclonic epilepsy, benign adult familial; familial
                     cortical myoclonic tremor with epilepsy 1"
                     /codon_start=1
                     /product="sterile alpha motif domain-containing protein 12
                     isoform b"
                     /protein_id="NP_997389.2"
                     /db_xref="CCDS:CCDS6325.1"
                     /db_xref="GeneID:401474"
                     /db_xref="HGNC:HGNC:31750"
                     /db_xref="MIM:618073"
                     /translation="MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQ
                     KVPDQKGTPKRLQAEAETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFK
                     QHDITGRALLRLTDKKLERMGIAQENLRQHILQQVLQLKVREEVRNLQLLTQGTLLLP
                     DGWMDGEIRRKTTLLLGQTGVRENLLLFLHRISIIENSIQI"
     exon            161..339
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /inference="alignment:Splign:2.1.0"
     exon            340..469
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /inference="alignment:Splign:2.1.0"
     exon            470..2186
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2157..2162
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /note="hexamer: AATAAA"
     polyA_site      2186
                     /gene="SAMD12"
                     /gene_synonym="BAFME; BAFME1; FAME; FAME1; FCMTE1; MEBA"
                     /note="major polyA site"
ORIGIN      
        1 gcctcgcttt gcgtgaccgc ggcaggttgg tcctggagca gataagcgca gaatatttag
       61 gcgaaagcga gaggaagggg ggagcgcggg gcaggaggag tacctcggcc aagaaaatta
      121 tgcatgcgtt agggaagctc tgagagaatg gctgtggaag ctctccactg tggtttgaat
      181 ccacggggta ttgatcaccc tgcccatgct gaaggtatta aactgcaaat tgaaggtgaa
      241 ggtgtggaat ctcaatccat taaaaataaa aatttccaga aggtgcctga ccagaaagga
      301 actcccaagc gactgcaggc agaagctgag acggctaagt cagctacggt gaagctatct
      361 aaaccggtgg ctctatggac ccagcaggat gtctgcaagt ggttgaagaa acattgtccg
      421 aatcagtatc agatctacag tgagtcattc aaacagcatg acataactgg gcgagccctg
      481 ctgagactta ctgacaaaaa gctcgagcga atggggattg cccaggagaa cctccggcag
      541 cacatcttac aacaggtgct ccagctgaag gtgcgagaag aagtcagaaa tctacagtta
      601 ctcacacaag gtaccctatt gcttcctgat gggtggatgg atggggagat tagaagaaag
      661 accaccttac tattaggaca gacaggagtc agggagaatt tgttattgtt tcttcacaga
      721 atttccatca tagaaaatag tatacagatt taagattact tccctttgaa aacttttttc
      781 atagctcact agggagaagg atgcacaaat aagtaatgga tgagcaaaca gaattacctg
      841 agctaacttc aaggtggtca cgtacagttg tatggattgt gtactgcaca accccagaga
      901 ataccagtca catcaatcag ggtacgattg cactcactag agttgtataa tgtgcagcct
      961 gcacaactgt acagtccagc tgtagctatc ttcacctgcg ccaattgtga gggcgcttta
     1021 gcatttgagt gattcaatag ttacgatgac cagtgatata agtggagttt ttgttgtatt
     1081 tttgttttgc ttttcaccgg ttagtgggag aaaaacattt tagatatgta ttactataca
     1141 tgaatgtatt atacacacac actttagaga ttgtaagaac cccatttagc ttcttgaaag
     1201 tggaataatt tttataatag actatagtga atctaaaact acactgttaa gagtatataa
     1261 ttcttaacag gaattataaa taacttcaat atgatgagag cacttaagat ctcaataact
     1321 gtggaagtga caaaataaag ctagaattcg aagaaagcct taagttacac tatatgtaac
     1381 tgatatgtct acatgagatt tggatgctat caaccttcat tggctataaa ctttatttgt
     1441 tttattttag cgtccattgt acatcgtttt aaatgaaagg atgataaaat atgtgttttt
     1501 gagagccttg agtatttgtc attctgcaga atattgtaat tgcatgcata ccgatattgg
     1561 agaaatctgg gtcagccaag tttcatgtta ttgcatttag attaacctag taatagtcca
     1621 tttgcctaga ggaaataatg tgctccctga aagatgacta ttctagaagg ataaatatag
     1681 atttcaagtg atcgtaaaat agtattgttt gtctcatatg cattatttgc attttgtcct
     1741 cagagatttc caatggtgaa tttactggta tactaagtga tttaaatttg aatgtgaaat
     1801 actgataggc ttttaagctt cttttaagaa gtagatagaa atacgaagat tatgataaga
     1861 aagtctgtca cagtgctatt tggaaaacgg aaaatttaca agcaacctag aggtccagca
     1921 atgtgaaaag aatcaagtaa ttctgcttaa attcataaga ttcagtataa tgcccagtta
     1981 ttaaaattac atctttaaag aatacatgac aacatgggaa attacgtaag tcatacaagg
     2041 tgggaggaaa ggtcatgtgt aaaattgtat gcataatata agcccaattt tgtaaaaacc
     2101 atatattctt atatgtacag aaaaaaagga ctgcaagtaa atatgccaac cattttaata
     2161 aaggatctct ctggattgtg ggataa
//
