LOCUS       NM_001286820            2086 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens FSHD region gene 2 (FRG2), transcript variant 1, mRNA.
ACCESSION   NM_001286820 XM_005263024 XM_005276969
VERSION     NM_001286820.2
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 2086)
  AUTHORS   Lemmers,R.J., Goeman,J.J., van der Vliet,P.J., van
            Nieuwenhuizen,M.P., Balog,J., Vos-Versteeg,M., Camano,P., Ramos
            Arroyo,M.A., Jerico,I., Rogers,M.T., Miller,D.G., Upadhyaya,M.,
            Verschuuren,J.J., Lopez de Munain Arregui,A., van Engelen,B.G.,
            Padberg,G.W., Sacconi,S., Tawil,R., Tapscott,S.J., Bakker,B. and
            van der Maarel,S.M.
  TITLE     Inter-individual differences in CpG methylation at D4Z4 correlate
            with clinical variability in FSHD1 and FSHD2
  JOURNAL   Hum Mol Genet 24 (3), 659-669 (2015)
   PUBMED   25256356
  REMARK    GeneRIF: Study showed that the variability in clinical severity of
            facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2
            individuals is dependent on individual differences in
            susceptibility to D4Z4 hypomethylation.
REFERENCE   2  (bases 1 to 2086)
  AUTHORS   Cheli,S., Francois,S., Bodega,B., Ferrari,F., Tenedini,E.,
            Roncaglia,E., Ferrari,S., Ginelli,E. and Meneveri,R.
  TITLE     Expression profiling of FSHD-1 and FSHD-2 cells during myogenic
            differentiation evidences common and distinctive gene dysregulation
            patterns
  JOURNAL   PLoS One 6 (6), e20966 (2011)
   PUBMED   21695143
  REMARK    GeneRIF: new insights into the gene deregulation characterizing
            both FSHD-1 and FSHD-2, in which miRNAs may play a role
REFERENCE   3  (bases 1 to 2086)
  AUTHORS   de Greef,J.C., Lemmers,R.J., Camano,P., Day,J.W., Sacconi,S.,
            Dunand,M., van Engelen,B.G., Kiuru-Enari,S., Padberg,G.W.,
            Rosa,A.L., Desnuelle,C., Spuler,S., Tarnopolsky,M., Venance,S.L.,
            Frants,R.R., van der Maarel,S.M. and Tawil,R.
  TITLE     Clinical features of facioscapulohumeral muscular dystrophy 2
  JOURNAL   Neurology 75 (17), 1548-1554 (2010)
   PUBMED   20975055
  REMARK    GeneRIF: Clinically, patients with FSHD2 are indistinguishable from
            patients with FSHD1. The present data suggest that FSHD1 and FSHD2
            are the result of the same pathophysiologic process.
REFERENCE   4  (bases 1 to 2086)
  AUTHORS   Rijkers,T., Deidda,G., van Koningsbruggen,S., van Geel,M.,
            Lemmers,R.J., van Deutekom,J.C., Figlewicz,D., Hewitt,J.E.,
            Padberg,G.W., Frants,R.R. and van der Maarel,S.M.
  TITLE     FRG2, an FSHD candidate gene, is transcriptionally upregulated in
            differentiating primary myoblast cultures of FSHD patients
  JOURNAL   J Med Genet 41 (11), 826-836 (2004)
   PUBMED   15520407
  REMARK    GeneRIF: FRG2 is upregulated in differentiating myoblast cultures
            of autosomal dominant facioscapulohumeral muscular dystrophy
            patients.
REFERENCE   5  (bases 1 to 2086)
  AUTHORS   Gabellini,D., Green,M.R. and Tupler,R.
  TITLE     Inappropriate gene activation in FSHD: a repressor complex binds a
            chromosomal repeat deleted in dystrophic muscle
  JOURNAL   Cell 110 (3), 339-348 (2002)
   PUBMED   12176321
REFERENCE   6  (bases 1 to 2086)
  AUTHORS   van Geel,M., Dickson,M.C., Beck,A.F., Bolland,D.J., Frants,R.R.,
            van der Maarel,S.M., de Jong,P.J. and Hewitt,J.E.
  TITLE     Genomic analysis of human chromosome 10q and 4q telomeres suggests
            a common origin
  JOURNAL   Genomics 79 (2), 210-217 (2002)
   PUBMED   11829491
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF146191.1.
            
            On Jan 3, 2020 this sequence version replaced NM_001286820.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144572.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000504750.6/ ENSP00000424015.1
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-230               AF146191.1         119957-120186       c
            231-308             AF146191.1         119621-119698       c
            309-386             AF146191.1         119314-119391       c
            387-2086            AF146191.1         117297-118996       c
FEATURES             Location/Qualifiers
     source          1..2086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..2086
                     /gene="FRG2"
                     /gene_synonym="FRG2A"
                     /note="FSHD region gene 2"
                     /db_xref="GeneID:448831"
                     /db_xref="HGNC:HGNC:19136"
                     /db_xref="MIM:609032"
     exon            1..230
                     /gene="FRG2"
                     /gene_synonym="FRG2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..892
                     /gene="FRG2"
                     /gene_synonym="FRG2A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FRG2; FSHD region gene 2 protein"
                     /codon_start=1
                     /product="protein FRG2 isoform 1"
                     /protein_id="NP_001273749.1"
                     /db_xref="CCDS:CCDS68834.1"
                     /db_xref="GeneID:448831"
                     /db_xref="HGNC:HGNC:19136"
                     /db_xref="MIM:609032"
                     /translation="MGKGNEDSDLHCSSIQCSTDQPPFQQISFTEKGSDEKKPFKEKG
                     KTAFSHSSEKHIQRQAGSEPNPNKENSEETKLKAGNSTAGSEPESSSYRENCRKRKMS
                     SKDSCQDTAGNCPEKECSLSLNKKSRSSTAVHNSEIQETCDAHHRGHSRACTGHSKRH
                     RSRALGVQTPSIRKSLVTSVRAMSEAVYQDLAQVWAQQIHSPLTCEQLTLLTRLRGPL
                     CAQVQTLYSMATQAAYVFPAESWLVPATLPGPGESALDREAHPFPGQEITETVSGSDE
                     AKL"
     exon            231..308
                     /gene="FRG2"
                     /gene_synonym="FRG2A"
                     /inference="alignment:Splign:2.1.0"
     exon            309..386
                     /gene="FRG2"
                     /gene_synonym="FRG2A"
                     /inference="alignment:Splign:2.1.0"
     exon            387..2086
                     /gene="FRG2"
                     /gene_synonym="FRG2A"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 acactctgcc tttggacgtg agagagagcg cacctttcac ttgagcttca acatgggaaa
       61 gggaaatgaa gactccgatc tccactgctc ctccatccag tgctccactg accagccccc
      121 tttccaacag atctccttta cagaaaaggg ctcagatgag aagaaaccat tcaaagaaaa
      181 aggcaagacc gccttctccc attccagtga gaagcacata caaaggcaag caggatcgga
      241 gcccaatcca aacaaggaga attctgagga aaccaagctc aaggccggga acagcactgc
      301 tggatcagaa ccagagtcca gctcatatcg ggaaaactgc aggaaaagaa aaatgagttc
      361 caaggacagc tgccaagaca cagcagggaa ctgtccagaa aaggagtgca gcttgtcatt
      421 gaataaaaaa tcaagatcct ccactgctgt gcacaacagt gaaatccagg agacctgtga
      481 tgcccaccat aggggacatt ccagggcttg cactgggcac agcaagcggc ataggtctcg
      541 ggccctagga gtccaaacac cgtcaattcg aaaaagcttg gtgacttctg tgcgagctat
      601 gtcagaggct gtttatcaag acctagccca ggtgtgggca cagcagatcc attctccact
      661 tacctgtgag cagctgacac tgctcactcg gctccggggg cctctgtgtg cccaggtgca
      721 gaccttgtat tccatggcca cccaggcagc ttatgtcttc cctgctgaga gctggcttgt
      781 cccagccaca ctgccaggtc ctggggaatc agccctggat agagaagccc atcccttccc
      841 tgggcaggag ataactgaga ctgtcagtgg atcagatgag gctaagctgt gagcaccctg
      901 accctattca gcagagatgc agctctggga atgagaacaa ggatctgctt cttctcagat
      961 tcttccagat gaccagcagt gacaatttta gacacactgt gttaataaat gacagaacct
     1021 gaagaagtca taggaaagaa acttgagcgg tatactcaga atggtgagag ccctgaattt
     1081 tgcagaccgc taagactata gacaaatttt atatttcatg ttagacattt gatgcctttt
     1141 ggatgtctga tgacagtcat gcatttctat ataatcagaa aaacattaga atgtaatcgt
     1201 gaatttgcat attttagatt gtagaaaagt aaatataaaa ttatgtgctc cttttttgtt
     1261 tttttttttt tttgagacag tcttgctatg ttacccaggc tggagtgcag tggcacaatc
     1321 ttagctcact gcaacctctg cttcctgggt tcaaacaatt ctcatgcctc agcctcccaa
     1381 gcagctggga ctacaggcat gtactgctat gcctggctaa tttttttttt cctgtattgt
     1441 tagtagagac agagttttgt cactttggcc aggttggcct cgaactcagg tgatctgcca
     1501 gcctccgcct cccaacgtgc tgggattaca ggcatgagcc gccttaccaa gaaattgctt
     1561 ctcttttaat ccagaaaagg ttgtaggctc tcactcttcc agcctgaacc catggagtac
     1621 taatatccac aaaccattaa tagcactccc tgtgggaaaa tgtctatata tttttagttt
     1681 gatataatta tagtaaaatt actatgcaag ctgtttactt ttaatatttc tacataaaat
     1741 ttaagtcaag atatagtaaa tggtaaatga ttgtacttat ttattgacct gcctcatgtt
     1801 tcatttcatt ttaaacatcc taaatttata ttttattata ttttatacat ttcaattgat
     1861 tgtactatat tgcaggatat ggagatttca tcacgtacta caatacagtg tattttgtta
     1921 tatttgacgt atattctact tgtattttgt actgagatca tacactattt cattatctaa
     1981 gtgtattaat tgtttggttg ctttataatt ttcattttat gtaatgaaat aaacaatgtt
     2041 gtttggaatt ttaaatttct ttcatatgga atttgtattt aataaa
//
