LOCUS       NM_001388083            3392 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2),
            transcript variant 8, mRNA.
ACCESSION   NM_001388083
VERSION     NM_001388083.1
KEYWORDS    RefSeq.
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 3392)
  AUTHORS   Serrano-Juarez,C.A., Venegas-Vega,C.A., Yanez-Tellez,M.G.,
            Rodriguez-Camacho,M., Silva-Pereyra,J., Salgado-Ceballos,H. and
            Prieto-Corona,B.
  TITLE     Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome
            With and Without Loss of GTF2IRD2
  JOURNAL   J Int Neuropsychol Soc 24 (9), 896-904 (2018)
   PUBMED   30375319
  REMARK    GeneRIF: atypical Williams Syndrome patients with GTF2IRD2 deletion
            had more impaired visuospatial abilities and more significant
            behavioral problems, mainly related to the construct of social
            cognition
REFERENCE   2  (bases 1 to 3392)
  AUTHORS   Dougherty,M.L., Underwood,J.G., Nelson,B.J., Tseng,E., Munson,K.M.,
            Penn,O., Nowakowski,T.J., Pollen,A.A. and Eichler,E.E.
  TITLE     Transcriptional fates of human-specific segmental duplications in
            brain
  JOURNAL   Genome Res 28 (10), 1566-1576 (2018)
   PUBMED   30228200
REFERENCE   3  (bases 1 to 3392)
  AUTHORS   Gunbin,K.V. and Ruvinsky,A.
  TITLE     Evolution of general transcription factors
  JOURNAL   J Mol Evol 76 (1-2), 28-47 (2013)
   PUBMED   23229069
REFERENCE   4  (bases 1 to 3392)
  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
REFERENCE   5  (bases 1 to 3392)
  AUTHORS   Porter,M.A., Dobson-Stone,C., Kwok,J.B., Schofield,P.R., Beckett,W.
            and Tassabehji,M.
  TITLE     A role for transcription factor GTF2IRD2 in executive function in
            Williams-Beuren syndrome
  JOURNAL   PLoS One 7 (10), e47457 (2012)
   PUBMED   23118870
  REMARK    GeneRIF: We provide the first evidence for a role for GTF2IRD2 in
            higher-level (executive functioning) abilities and highlight the
            importance of integrating detailed molecular characterisation of
            patients with comprehensive neuropsychological profiling
REFERENCE   6  (bases 1 to 3392)
  AUTHORS   Edelmann,L., Prosnitz,A., Pardo,S., Bhatt,J., Cohen,N., Lauriat,T.,
            Ouchanov,L., Gonzalez,P.J., Manghi,E.R., Bondy,P., Esquivel,M.,
            Monge,S., Delgado,M.F., Splendore,A., Francke,U., Burton,B.K. and
            McInnes,L.A.
  TITLE     An atypical deletion of the Williams-Beuren syndrome interval
            implicates genes associated with defective visuospatial processing
            and autism
  JOURNAL   J Med Genet 44 (2), 136-143 (2007)
   PUBMED   16971481
REFERENCE   7  (bases 1 to 3392)
  AUTHORS   Del Campo,M., Antonell,A., Magano,L.F., Munoz,F.J., Flores,R.,
            Bayes,M. and Perez Jurado,L.A.
  TITLE     Hemizygosity at the NCF1 gene in patients with Williams-Beuren
            syndrome decreases their risk of hypertension
  JOURNAL   Am J Hum Genet 78 (4), 533-542 (2006)
   PUBMED   16532385
REFERENCE   8  (bases 1 to 3392)
  AUTHORS   Hinsley,T.A., Cunliffe,P., Tipney,H.J., Brass,A. and Tassabehji,M.
  TITLE     Comparison of TFII-I gene family members deleted in Williams-Beuren
            syndrome
  JOURNAL   Protein Sci 13 (10), 2588-2599 (2004)
   PUBMED   15388857
  REMARK    GeneRIF: There is high indentity between CTF2IRD2 and CTF2I, which
            suggests that heterodimers as well as homodimers are possible, and
            indicates overlapping functions between their respective short
            isoforms.
REFERENCE   9  (bases 1 to 3392)
  AUTHORS   Makeyev,A.V., Erdenechimeg,L., Mungunsukh,O., Roth,J.J.,
            Enkhmandakh,B., Ruddle,F.H. and Bayarsaihan,D.
  TITLE     GTF2IRD2 is located in the Williams-Beuren syndrome critical region
            7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix
            repeats
  JOURNAL   Proc Natl Acad Sci U S A 101 (30), 11052-11057 (2004)
   PUBMED   15243160
  REMARK    GeneRIF: GTF2IRD2 genes in mice and humans allows refinement of the
            centromeric breakpoint position of the primate-specific inversion
            within the Williams-Beuren syndrome critical region.
REFERENCE   10 (bases 1 to 3392)
  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
  REMARK    GeneRIF: Williams-Beuren syndrome patients are hemizygous for the
            GTF2IRD2 gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC211424.4 and AC211433.4.
            
            Summary: This gene is one of several closely related genes on
            chromosome 7 encoding proteins containing helix-loop-helix motifs.
            These proteins may function as regulators of transcription. The
            encoded protein is unique in that its C-terminus is derived from
            CHARLIE8 transposable element sequence. This gene is located in a
            region of chromosome 7 that is deleted in Williams-Beuren syndrome,
            and loss of this locus may contribute to the cognitive phenotypes
            observed in this disease. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            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 :: SRR7410570.416867.1,
                                           SRR14372079.1476342.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-239               AC211424.4         105864-106102       c
            240-343             AC211424.4         90777-90880         c
            344-482             AC211424.4         87302-87440         c
            483-602             AC211424.4         79430-79549         c
            603-657             AC211424.4         74466-74520         c
            658-701             AC211424.4         74051-74094         c
            702-779             AC211424.4         67236-67313         c
            780-836             AC211424.4         65393-65449         c
            837-902             AC211424.4         63605-63670         c
            903-980             AC211424.4         61431-61508         c
            981-1064            AC211424.4         59274-59357         c
            1065-1248           AC211424.4         57795-57978         c
            1249-1277           AC211424.4         56482-56510         c
            1278-2695           AC211424.4         51345-52762         c
            2696-3392           AC211433.4         232916-233612       c
FEATURES             Location/Qualifiers
     source          1..3392
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3392
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /note="GTF2I repeat domain containing 2"
                     /db_xref="GeneID:84163"
                     /db_xref="HGNC:HGNC:30775"
                     /db_xref="MIM:608899"
     exon            1..239
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            240..343
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             245..2881
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /note="isoform 8 is encoded by transcript variant 8;
                     general transcription factor II-I repeat domain-containing
                     protein 2A; general transcription factor II i repeat
                     domain 2 alpha; transcription factor GTF2IRD2-alpha; GTF2I
                     repeat domain-containing protein 2A; GTF2I repeat
                     domain-containing protein 2, alpha"
                     /codon_start=1
                     /product="general transcription factor II-I repeat
                     domain-containing protein 2A isoform 8"
                     /protein_id="NP_001375012.1"
                     /db_xref="GeneID:84163"
                     /db_xref="HGNC:HGNC:30775"
                     /db_xref="MIM:608899"
                     /translation="MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEV
                     ACIAVYETDVFVVGTERGCAFVNARTDFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSG
                     ETEILRKAVEDYFCFCYGGPGMVTDAERSIVSPSESCGPINVKTEPMEDSGISLKAEA
                     VSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPSEEPNEDPEAEVKI
                     EGNTNSSSVTNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLFSRKFGEA
                     IGVDFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILEAAEFIKFTVI
                     RPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSKEYNLR
                     RHYQTNHSKHYDQYMERMRDEKLHELKKGLRKYLLGSSDTECPEQKQVFANPSPTQKS
                     PVQPVEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIFIRGVDENFDVSEE
                     LLDTVPMTGTKSGNEIFSRVEKSLKNFCIDWSKLVSVASTGTPAMVDANNGLVTKLKS
                     RVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWICSRGLNHSEFTTLL
                     YELDSQYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWIRDL
                     AFLVDMTMHLNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKL
                     ASRNESDGLNYIPKIAELQTEFQKRLSDFKLYESELTLFSSPFSTKIDSVHEELQMEV
                     IDLQCNTVLKTKYDKVGIPEFYKYLWGSYPKYKHHCAKILSMFGSTYICEQLFSIMKL
                     SKTKYCSQLKDSQWDSVLHIAT"
     exon            344..482
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            483..602
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            603..657
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            658..701
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            702..779
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            780..836
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            837..902
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            903..980
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1064
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1248
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1277
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..3392
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3373..3378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /note="hexamer: ATTAAA"
     polyA_site      3392
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /note="major polyA site"
ORIGIN      
        1 acacgagtcg aggctgcctt ccaggaagca aacaaaaaaa ggggggaaaa gggggggaaa
       61 gaaagaaaga gaaaaaggag ggcgagtggc gagcaggggc ttcggccgcc acccacacgc
      121 cccgaagcgt gctcgtcccc cgcgcggggc tctcggccgc cgccctcggc catcggctgc
      181 tccccggtgg cccaggcctc ggactccgcg gccggcccgg cgcggcccag cgccctcagg
      241 gatcatggcc caggtagcag tgtccaccct gcctgttgaa gaagagtcct cctcagagac
      301 caggatggtg gtgacattcc tcgtgtctgc cctcgaatcc atgtgtaaag aactggccaa
      361 gtccaaggca gaagtggcct gcatcgcagt gtacgaaaca gacgtgtttg tcgtcggaac
      421 cgagagagga tgcgcttttg ttaatgccag gacggatttt cagaaagatt ttgcaaaata
      481 ctgcgttgca gagggactgt gtgaggtgaa acctccctgc cctgtgaacg ggatgcaggt
      541 ccactcaggc gaaacggaaa tactcaggaa ggcagtggag gactatttct gcttttgtta
      601 tggtggccct gggatggtaa cagatgcgga gagatccata gtatcaccaa gtgaaagctg
      661 cggccccatc aatgtgaaaa ctgaacccat ggaagattct ggcatttcac tgaaagcaga
      721 agctgtctca gtcaagaaag aatcagaaga tcctaattac tatcaatata atatgcaagg
      781 aagccaccct tcttccacaa gcaatgaagt aatagaaatg gaattaccaa tggaagattc
      841 cactccgctg gtcccttcag aagaaccaaa tgaggaccct gaagccgagg tgaaaatcga
      901 aggaaacaca aattcatcca gtgttacaaa ttctgcagca ggtgttgaag atcttaacat
      961 cgttcaagtg actgttccag ataatgagaa ggaaagatta tcaagcattg aaaagattaa
     1021 acagctaaga gaacaagtta atgacctctt tagccgaaaa tttggtgaag caattggcgt
     1081 ggatttccct gtgaaagttc cctacaggaa gatcacattc aaccctggct gtgtggtgat
     1141 tgatggcatg cccccggggg tggtattcaa ggcccccggc tatctggaaa tcagttccat
     1201 gaggaggatc ttggaggcag ctgagtttat caaattcaca gtcatcaggc cgcttccagg
     1261 gcttgagctc agtaatgtgg gaaaacgcaa gatagaccag gagggccgtg tgtttcaaga
     1321 aaagtgggag agagcgtatt tcttcgtgga agtacagaat attccaacat gtctcatatg
     1381 caaacaaagc atgtctgtgt ccaaagaata taacctaaga cgccactatc aaaccaatca
     1441 cagcaagcat tatgaccagt atatggaaag aatgcgtgac gagaagcttc acgagctgaa
     1501 aaaagggctc aggaagtatc tcttaggctc atcagacacc gagtgtcccg agcaaaaaca
     1561 agtgtttgca aacccaagtc caacccagaa atcccccgtg cagcctgtag aggacctagc
     1621 tgggaactta tgggagaagt tacgtgaaaa aatcaggtct tttgtggcat attctatcgc
     1681 aatcgatgag atcacggata taaataatac cacccagttg gccatattca tccgtggtgt
     1741 cgatgagaat ttcgatgtgt ccgaagaact tctggacacg gtgcccatga cgggtacaaa
     1801 atctggcaac gagatctttt cgcgtgttga gaaaagcctg aaaaacttct gtatcgactg
     1861 gtcgaaatta gtaagcgtgg cctccactgg caccccagcg atggtggatg ccaataacgg
     1921 gcttgtcaca aaactgaagt ccagggtggc gacgttctgc aagggtgcgg aactgaagtc
     1981 catctgttgt ataattcatc cggaatcact ctgtgctcag aagttgaaga tggaccacgt
     2041 catggacgtg gtagtgaagt ccgtgaactg gatatgctcc cggggactga accacagtga
     2101 gttcacaacc ttgctctatg agctggacag ccagtatggt agcctcctgt actacacgga
     2161 gattaagtgg ctcagtcgcg ggctcgtgct aaagagattt ttcgaatcct tggaagaaat
     2221 cgactccttc atgtcatcca gagggaaacc cctgcctcaa ctgagctcca tagattggat
     2281 ccgagacctg gccttcttgg ttgacatgac gatgcatctg aacgctttga acatctctct
     2341 ccaaggacac tcccaaatcg tcacgcagat gtatgacctg atccgggcgt tcctagcaaa
     2401 actgtgcctc tgggagactc atttgacgag gaataatctg gcccactttc ccaccctgaa
     2461 attggcttcc agaaatgaaa gcgatggcct gaactacatt cccaaaatcg cggaactcca
     2521 gaccgaattc cagaaaaggc tgtctgattt caaactctac gaaagcgaac tgactctgtt
     2581 cagctccccg ttctccacga agatcgacag tgtgcacgag gagctccaga tggaggttat
     2641 cgacctgcaa tgcaacacgg tcctgaagac gaaatacgac aaggtgggaa taccagaatt
     2701 ctacaagtac ctctggggta gctacccgaa atacaagcac cattgcgcaa agattctttc
     2761 catgttcggg agcacctaca tctgcgaaca gctgttctcc attatgaaac tgagcaaaac
     2821 aaaatactgc tcccagttaa aggattccca gtgggattct gtactccaca tcgcaacgtg
     2881 atggagagaa aactcctggc agggccctat ggtgggaaag gctggagtct tctagtccca
     2941 agggattggg agatgacaaa atgaattttt ttttcttttt tgagatggag tcttgctctg
     3001 tcgcccaggt tggagtgcag tggcgtgatc tcggcttact gcaacttcca gctcctgggt
     3061 tcgaacgatt ctcctgcctc agcctcccga gcagctggga ctacaggcgt gcgccaccat
     3121 gcctggctaa tttttgtatt agtagagatg aggtttcacc atgttggcca ggctggtctc
     3181 caactcctga cctcaggtga tccacctgcc tcgacctcac aaagtgctgg gattacaggc
     3241 atgaaccact gtgcccagct gacaaaatga gttcttaaac tttttttttt ttcagttttt
     3301 tttccacttt gaatcagaaa tataatctgc agtatcatac ttgtttatat tacattgtat
     3361 gcctcactat tcattaaaaa tcaagaaagt tt
//
