LOCUS       NM_001124759            2033 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens FSHD region gene 2 family member C (FRG2C), transcript
            variant 1, mRNA.
ACCESSION   NM_001124759 XM_002342361
VERSION     NM_001124759.5
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 2033)
  AUTHORS   Muzny,D.M., Scherer,S.E., Kaul,R., Wang,J., Yu,J., Sudbrak,R.,
            Buhay,C.J., Chen,R., Cree,A., Ding,Y., Dugan-Rocha,S., Gill,R.,
            Gunaratne,P., Harris,R.A., Hawes,A.C., Hernandez,J., Hodgson,A.V.,
            Hume,J., Jackson,A., Khan,Z.M., Kovar-Smith,C., Lewis,L.R.,
            Lozado,R.J., Metzker,M.L., Milosavljevic,A., Miner,G.R.,
            Morgan,M.B., Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z.,
            Steffen,D., Wei,S., Wheeler,D.A., Wright,M.W., Worley,K.C.,
            Yuan,Y., Zhang,Z., Adams,C.Q., Ansari-Lari,M.A., Ayele,M.,
            Brown,M.J., Chen,G., Chen,Z., Clendenning,J.,
            Clerc-Blankenburg,K.P., Chen,R., Chen,Z., Davis,C., Delgado,O.,
            Dinh,H.H., Dong,W., Draper,H., Ernst,S., Fu,G.,
            Gonzalez-Garay,M.L., Garcia,D.K., Gillett,W., Gu,J., Hao,B.,
            Haugen,E., Havlak,P., He,X., Hennig,S., Hu,S., Huang,W.,
            Jackson,L.R., Jacob,L.S., Kelly,S.H., Kube,M., Levy,R., Li,Z.,
            Liu,B., Liu,J., Liu,W., Lu,J., Maheshwari,M., Nguyen,B.V.,
            Okwuonu,G.O., Palmeiri,A., Pasternak,S., Perez,L.M., Phelps,K.A.,
            Plopper,F.J., Qiang,B., Raymond,C., Rodriguez,R.,
            Saenphimmachak,C., Santibanez,J., Shen,H., Shen,Y., Subramanian,S.,
            Tabor,P.E., Verduzco,D., Waldron,L., Wang,J., Wang,J., Wang,Q.,
            Williams,G.A., Wong,G.K., Yao,Z., Zhang,J., Zhang,X., Zhao,G.,
            Zhou,J., Zhou,Y., Nelson,D., Lehrach,H., Reinhardt,R., Naylor,S.L.,
            Yang,H., Olson,M., Weinstock,G. and Gibbs,R.A.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
REFERENCE   2  (bases 1 to 2033)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC108724.4.
            
            On Nov 19, 2020 this sequence version replaced NM_001124759.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2389587.1,
                                           SRR14327317.484185.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308062.8/ ENSP00000312299.3
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-230               AC108724.4         89009-89238         c
            231-308             AC108724.4         88670-88747         c
            309-386             AC108724.4         88363-88440         c
            387-2033            AC108724.4         86393-88039         c
FEATURES             Location/Qualifiers
     source          1..2033
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p12.3"
     gene            1..2033
                     /gene="FRG2C"
                     /note="FSHD region gene 2 family member C"
                     /db_xref="GeneID:100288801"
                     /db_xref="HGNC:HGNC:33626"
     exon            1..230
                     /gene="FRG2C"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..901
                     /gene="FRG2C"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FRG2-like-2; HSA3-FRG2; FSHD region gene 2 protein
                     family member C; FSHD region gene 2 family, member C-like"
                     /codon_start=1
                     /product="protein FRG2-like-2 isoform 1"
                     /protein_id="NP_001118231.1"
                     /db_xref="CCDS:CCDS43108.1"
                     /db_xref="GeneID:100288801"
                     /db_xref="HGNC:HGNC:33626"
                     /translation="MGKGNEDPDLHCSSIQCSTDQPPFQQISFTEKGSDEKKPFKGKG
                     KTAFSHSSEKHTQRQAGSDPNPNKENSEETKLKAGNSTAGSEPESSSYQENCRKRKIS
                     SKDICQDRAGNCPEEECNLTLNKKSRSSTAVHNSEIQETCDAHHRGSSRACTGRSKRH
                     RSRALEVQTPSLRKSLVTSVRAMSEAVYQDLAQVWAQQIHSPLTCEQLTLLTRLRGPL
                     CAQVQTLYSMATQAAYVFPAESWLVPATLPGPGDSALDREAHPFPGQEITEPVSGSDE
                     AKLGAP"
     exon            231..308
                     /gene="FRG2C"
                     /inference="alignment:Splign:2.1.0"
     exon            309..386
                     /gene="FRG2C"
                     /inference="alignment:Splign:2.1.0"
     exon            387..2033
                     /gene="FRG2C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FRG2C"
                     /note="hexamer: AATAAA"
     polyA_site      2033
                     /gene="FRG2C"
                     /note="major polyA site"
ORIGIN      
        1 acactctgcc tttggacatg tgagagagcg cacctttcac ttgagcttca acatgggaaa
       61 gggaaatgaa gaccccgatc tccactgttc ctccatccag tgctccactg accagccccc
      121 tttccaacag atctccttta cagaaaaggg ctcagatgag aagaaaccat tcaaaggaaa
      181 aggcaagacc gccttctccc attccagtga gaagcacaca caaaggcaag caggatcaga
      241 tcccaatcca aacaaggaga attctgagga aaccaagctc aaggccggga acagcactgc
      301 tggatcagaa ccagagtcca gctcatatca ggaaaactgc aggaaaagaa aaatcagttc
      361 caaggatatc tgccaagaca gagcagggaa ctgtccagaa gaggagtgca acttgacgtt
      421 gaataaaaaa tcaagatcct ccactgctgt gcacaacagt gaaatccagg agacctgtga
      481 tgcccaccat aggggaagtt ccagggcttg cactgggcgc agcaagcggc ataggtctcg
      541 ggccctagaa gtccaaacac cgtcacttcg aaaaagcttg gtgacctctg tgcgagctat
      601 gtcggaggct gtttatcaag acctagccca ggtgtgggca cagcagatcc attctccact
      661 gacctgtgag cagctgacac tgctcactcg gctccggggg cctctgtgtg cccaggtgca
      721 gaccttgtat tccatggcca ctcaggcagc ttatgtcttc cctgctgaga gctggcttgt
      781 cccagccaca ctgcctggtc ctggggattc agccctggat agagaagccc atcccttccc
      841 tgggcaggag ataactgagc ctgtcagtgg atcagatgag gctaagctgg gagcaccctg
      901 accctattca gcagagatgc agctctggga atgagaacaa ggacctgctt cttctcagat
      961 tcttccagac gaccagcagt gacaatttta gatgcactgt gttaataaat gacagaacct
     1021 gaagaagtca taggaaagaa acttgagcgg tatactcaga atggtgagcc ctgaattttg
     1081 cagaccgcta aggctataga caaattttat atttcatgtt agacatttga taccttttgg
     1141 atgtctgatg acagtcgtgc atttctatat aatcagaaaa atattaggtt gcaatcgtga
     1201 attttcatat tttagattgt agaaaagtaa atataaaatt atatgctctt tttttttttg
     1261 agacagtctt gctatgtcac tcaggctgga gtgcagtggc acaatcttag ctcactgcaa
     1321 cctctgcttc ctgggttcaa acaattctca tgcctcagcc tcccaagtag ctgggactac
     1381 aggcatgtac cgccatgcct ggctaatgtt tttttcttgt attgttagta gagttttgtc
     1441 acgttggcca ggttggcctc ggactcaagt gatccaccag cctccacctc ccgacgtggt
     1501 ggggttacag gcatgagccg ctttaccaag aaattgcttc tcttttaatt cggaaaaggt
     1561 tgtaggctct tccagcctga acccatggag tactaacatc cacaaaccat taatagcact
     1621 ccctgtggga aaatgtttat acatttttac agtttgcata gtaaaattac tatgcaagct
     1681 gtttactttt aatatttcta cataaaattt aagtcaagat atattaaatg gtaaatgatt
     1741 gtacttattt attcatctgc ctcatgtttt atttcatttt aaacatcctg aatttatatt
     1801 ttattgtatt tcatacattt caattgattg tactgtattg caggatatgg agatttcatc
     1861 acatactaca atacagtgta ttttgttata tttgacgtat attctacttg tattttgtac
     1921 tgagatcata caatctttca ttatctaagt gtattaatga cttgtttggt tgctttataa
     1981 ttttcatttt atgtaataat gaaataaaca ttaatgttgt ttggaatttt aaa
//
