LOCUS       NM_053266               3468 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus GTF2I repeat domain containing 2 (Gtf2ird2),
            transcript variant 1, mRNA.
ACCESSION   NM_053266
VERSION     NM_053266.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3468)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3468)
  AUTHORS   Palmer,S.J., Taylor,K.M., Santucci,N., Widagdo,J., Chan,Y.K.,
            Yeo,J.L., Adams,M., Gunning,P.W. and Hardeman,E.C.
  TITLE     GTF2IRD2 from the Williams-Beuren critical region encodes a
            mobile-element-derived fusion protein that antagonizes the action
            of its related family members
  JOURNAL   J Cell Sci 125 (Pt 21), 5040-5050 (2012)
   PUBMED   22899722
  REMARK    GeneRIF: GTF2IRD2 has evolved as a regulator of GTF2IRD1 and
            TFII-I; inhibiting their function by direct interaction and
            sequestration into inactive nuclear zones.
REFERENCE   3  (bases 1 to 3468)
  AUTHORS   Sakurai,T., Dorr,N.P., Takahashi,N., McInnes,L.A., Elder,G.A. and
            Buxbaum,J.D.
  TITLE     Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome,
            leads to increases in social interactions
  JOURNAL   Autism Res 4 (1), 28-39 (2011)
   PUBMED   21328569
REFERENCE   4  (bases 1 to 3468)
  AUTHORS   Ohazama,A. and Sharpe,P.T.
  TITLE     TFII-I gene family during tooth development: candidate genes for
            tooth anomalies in Williams syndrome
  JOURNAL   Dev Dyn 236 (10), 2884-2888 (2007)
   PUBMED   17823943
  REMARK    GeneRIF: expression of TFII-I gene family were mapped in embryonic
            tooth germs; at bud stage, Gtf2ird1 & Gtf2ird2 were expressed in
            epithelial buds; at early bell stage, expression of Gtf2ird1 &
            Gtf2ird2 was observed in preameloblasts & preodontoblasts
REFERENCE   5  (bases 1 to 3468)
  AUTHORS   Tipney,H.J., Hinsley,T.A., Brass,A., Metcalfe,K., Donnai,D. and
            Tassabehji,M.
  TITLE     Isolation and characterisation of GTF2IRD2, a novel fusion gene and
            member of the TFII-I family of transcription factors, deleted in
            Williams-Beuren syndrome
  JOURNAL   Eur J Hum Genet 12 (7), 551-560 (2004)
   PUBMED   15100712
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY014963.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY014963.1, AY116023.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3468
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 74.45 cM"
     gene            1..3468
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /note="GTF2I repeat domain containing 2"
                     /db_xref="GeneID:114674"
                     /db_xref="MGI:MGI:2149780"
     exon            1..221
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            222..319
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..3037
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /note="isoform 1 is encoded by transcript variant 1;
                     general transcription factor II-I repeat domain-containing
                     protein 2; transcription factor GTF2IRD2; GTF2I repeat
                     domain-containing protein 2"
                     /codon_start=1
                     /product="general transcription factor II-I repeat
                     domain-containing protein 2 isoform 1"
                     /protein_id="NP_444496.1"
                     /db_xref="CCDS:CCDS19719.1"
                     /db_xref="GeneID:114674"
                     /db_xref="MGI:MGI:2149780"
                     /translation="MAQVAVTTQPTDEPSDGRMVVTFLMSALESMCKELAKSKAEVAC
                     IAVYETDVYVVGTERGCAFVNARQDLQKDFAQHCQGEGLPEEKPLCLGNGEACPGEAQ
                     LLRRAVQDHFCLCYRKALGTTAMVPVPYEQMLQDEAAVVVRGLPEGLAFQHPDNYSLA
                     TLKWILENKAGISFAVKRPFLGAESQLGGLGMVTDAGRPTVPPNDSYGPVSVKTEPME
                     DSGTSPRAAAMLIKTESEDPNYNVCNVQGSQHFSASSDVTGMELPSEESTRMVALETN
                     EDPETEVKMEGNASPSNLVNSAAGVEDLRIIQVTVADNEKERLSGLEKIKQLREQVND
                     LFSRKFGEAIGVDFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILDA
                     ADFIKFTVIRPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSV
                     SVSKEYNLRRHYQTNHSRHYDQYSGQAREEKLRELKRGLRKYLLGASEIVCPEQPFPN
                     ASPPTNSAVQPAEEVAGSLWEKLRQKIRSFVAYSIAIDEITDINDTTQLAIFIRGVDD
                     NFDVSEELLDTVPMTGAKSGNEIFLRVEKSLKKFSIDWSKLVSVASTGTPAMMDANSG
                     LVTKLRARAASCCKGADLKSVRCIIHPEWLCAQKLRMGHVMDVVVDSVNWICSRGLNH
                     GDFTTLLYELDSQYGSLLYHTALKWLGRGLVLRRFFESLEEIDSFMSSRGKPVPQLSS
                     RDWILDLAFLVDMTTHLNTLDASLQGHSQIVTQMYDFIRAFLAKLCLWETHLARNNLA
                     HFPTLKSVSRSESDGLNYIPKIVELKAEFQRRLSDFKSCESELTLFSSPFSTTIDSVR
                     EELQMEVIDLQCNTVLRTKYDKVGVPDFYKHLWSSYPKYRSHCARMLSMFSSTHICEQ
                     LFSILKLSKKEAQWGAALQVAT"
     exon            320..458
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            459..575
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            576..759
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            760..788
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            789..843
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            844..887
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            888..965
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1022
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1085
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1163
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1247
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1431
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1460
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..3468
                     /gene="Gtf2ird2"
                     /gene_synonym="1700012P16Rik"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcttcggcca cgcgcgggaa gccgaccttc cttccaggaa gcaaacaaag acaaaaaata
       61 aaataaaaaa gagggagaaa aaataataaa aacgaaaaac aggaagggag cggagaggag
      121 gcgcccgcgg cccccgagct gcggtcgccg gcgcagagcc gctgcgcacg cgcaagccag
      181 gctccagacc cccggcgcgg cccgcaaagc agggccctca ggaacaatgg cccaagtagc
      241 agtgactact cagcccactg atgagccctc agacggcagg atggtggtga cgttcctcat
      301 gtctgccctg gagtccatgt gtaaagagct ggccaagtcc aaggccgagg tggcctgcat
      361 cgctgtgtat gagacagacg tgtacgtggt ggggacggag cggggctgtg cctttgtcaa
      421 cgccagacag gatctccaga aagactttgc acagcactgc cagggggaag ggctgcctga
      481 agagaagcca ctgtgtctgg gaaatgggga ggcctgtcct ggagaagccc agctgctcag
      541 gagagccgtg caggaccatt tctgcctctg ttaccgtaaa gccttgggga caacagccat
      601 ggtccctgtt ccctacgagc agatgctaca ggatgaggca gctgtggtgg ttcggggcct
      661 tccggaaggc ctggccttcc agcacccaga caattacagc cttgccaccc tgaagtggat
      721 cctggagaac aaagcaggga tctccttcgc tgtaaagagg cccttcctag gtgcagagag
      781 ccagctgggt ggccttggga tggtgacaga tgctgggagg ccgacagtac caccaaatga
      841 cagctatggc cctgtcagtg tgaaaactga acccatggaa gattctggca cttcaccaag
      901 ggcagcagcc atgctaatca agacggagtc ggaagatcct aattacaacg tgtgtaacgt
      961 gcaaggaagc cagcattttt ccgccagcag tgacgtcact ggaatggagc taccatctga
     1021 agagtctact cggatggtcg ctttagagac caatgaggac cccgagactg aggtaaaaat
     1081 ggaaggaaat gcaagtccat ccaaccttgt aaactctgca gcaggtgttg aagaccttag
     1141 gatcatacag gtgacagtcg cagataatga gaaggagagg ctctcaggcc tcgaaaaaat
     1201 taagcaactg cgagaacaag taaacgacct cttcagccgc aagtttgggg aggcgatcgg
     1261 agtggacttc cccgtgaagg ttccctacag gaaaatcacc ttcaaccctg gctgtgtggt
     1321 gattgatggc atgcctccgg gggtggtgtt caaagccccc gggtatctgg agatcagctc
     1381 catgaggagg atcctggatg ctgcagactt catcaagttc acggtcatta gaccacttcc
     1441 tggacttgaa ctcagtaatg tggggaaacg gaagatagac caggagggcc gcgtgtttca
     1501 agaaaagtgg gagcgagcct atttcttcgt ggaggtgcag aacatcccca cgtgtttgat
     1561 ctgcaagcag agcgtgtcgg tgtccaagga gtacaacctg cgccgccact accagaccaa
     1621 ccacagccgg cactatgacc agtactcggg tcaggcccgg gaagagaagc ttagagagct
     1681 gaaaagggga ctgcggaagt atctcctggg ggcctcggag atcgtgtgtc cagagcaacc
     1741 attccccaat gcaagtcccc ccacgaactc cgcggtgcag ccggcggaag aggtggccgg
     1801 gagcttatgg gagaagttaa gacagaaaat ccgctccttt gtggcgtact ccatcgccat
     1861 cgatgagatt acggatatca atgacaccac ccagctggcc atcttcatcc gcggcgtcga
     1921 cgacaacttc gacgtgtccg aggaactttt ggacactgtg cccatgacag gcgccaaatc
     1981 cgggaatgag atattcctgc gcgttgagaa gagtctcaag aagttcagta tcgattggtc
     2041 caagctggtg agcgtggcct ccacgggcac gccggccatg atggatgcca acagcgggct
     2101 ggtgacaaag ctcagagcca gggcagcctc atgttgcaag ggagccgacc tcaaatccgt
     2161 gcgctgtatc attcacccag agtggctgtg cgcccagaag ttaagaatgg gccacgtcat
     2221 ggacgtggtg gtagactcgg tgaactggat ctgctcccgt ggcctgaacc acggcgactt
     2281 cacgacactg ctctacgagc tggacagtca gtatggcagc ctactgtacc acacggccct
     2341 caaatggctg ggccgagggc tggtcctcag gaggttcttc gaatccttgg aggaaataga
     2401 ctcgtttatg tcttcccggg gcaaacctgt gccccagctc agttctcggg actggatcct
     2461 ggacctggcc ttcctagtgg acatgacgac gcacctcaat acactggatg cctccctcca
     2521 aggccattca cagatcgtga cccagatgta tgacttcatc cgggccttcc tagcgaaact
     2581 gtgcctctgg gagacgcatc tggccaggaa caacctggcc cacttcccca cgctgaaatc
     2641 ggtttcccgg agtgaaagcg acgggctcaa ctacatccct aagatcgtgg agctgaaggc
     2701 cgagttccag aggcgcctgt cggatttcaa gtcgtgtgag agcgagctca ccctgttcag
     2761 ctccccgttt tccaccacga tcgacagcgt gcgcgaggag ctccagatgg aggtgatcga
     2821 cctgcagtgc aacacggtgc tgaggaccaa gtacgacaag gtgggcgtcc cggacttcta
     2881 caagcacctg tggagcagtt accccaaata caggagccac tgtgccagga tgctgtccat
     2941 gttcagcagc acccacatct gcgagcagct cttctccatc ctgaagctga gcaagaaaga
     3001 ggcgcagtgg ggcgcagcac tccaggtggc cacgtgacag agcagagggc ggagccttca
     3061 atcccactac tgcggaggcc aaggcaggag gatctgagtt tgaatttgag gtcagcttgg
     3121 gctacctatc aataccccat ttcaataaag agaagttgct ggaagaggaa aggaaggaaa
     3181 tctggccatt cctctatgtg gagacctaga atgttccaga cctaatagcc tgtgagacga
     3241 gaatagacca ttaaacctct ccgtttaatg aaaataatgt cccctctccc cccactttga
     3301 gtcggaatcc cagtttacac atcacagctg ttcagatgac ctgtgacacc tgtctgtagt
     3361 ttggtaaagc ccataacagt tgtaggtcca gtggctggct cctcttggct tcactgaccc
     3421 atgccactca tccacgctgt cctgtttcaa ataaacccac tgtgaaag
//
