LOCUS       NM_001388080            3539 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2),
            transcript variant 5, mRNA.
ACCESSION   NM_001388080
VERSION     NM_001388080.1
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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 3539)
  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 :: SRR1803613.176994.1,
                                           SRR14372080.4345854.1 [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
            603-786             AC211424.4         77121-77304         c
            787-815             AC211424.4         76924-76952         c
            816-870             AC211424.4         74466-74520         c
            871-914             AC211424.4         74051-74094         c
            915-992             AC211424.4         67236-67313         c
            993-1049            AC211424.4         65393-65449         c
            1050-1127           AC211424.4         61431-61508         c
            1128-1211           AC211424.4         59274-59357         c
            1212-1395           AC211424.4         57795-57978         c
            1396-1424           AC211424.4         56482-56510         c
            1425-2842           AC211424.4         51345-52762         c
            2843-3539           AC211433.4         232916-233612       c
FEATURES             Location/Qualifiers
     source          1..3539
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3539
                     /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..3028
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /note="isoform 5 is encoded by transcript variant 5;
                     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 5"
                     /protein_id="NP_001375009.1"
                     /db_xref="GeneID:84163"
                     /db_xref="HGNC:HGNC:30775"
                     /db_xref="MIM:608899"
                     /translation="MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEV
                     ACIAVYETDVFVVGTERGCAFVNARTDFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSG
                     ETEILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQSAVVVQGLPEGVAFQHPENY
                     DLATLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESCGPINVKTE
                     PMEDSGISLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEGNTNSSSV
                     TNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLFSRKFGEAIGVDFPVKV
                     PYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILEAAEFIKFTVIRPLPGLELS
                     NVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSKEYNLRRHYQTNHSK
                     HYDQYMERMRDEKLHELKKGLRKYLLGSSDTECPEQKQVFANPSPTQKSPVQPVEDLA
                     GNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIFIRGVDENFDVSEELLDTVPMTG
                     TKSGNEIFSRVEKSLKNFCIDWSKLVSVASTGTPAMVDANNGLVTKLKSRVATFCKGA
                     ELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWICSRGLNHSEFTTLLYELDSQYGS
                     LLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWIRDLAFLVDMTMH
                     LNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKLASRNESDGL
                     NYIPKIAELQTEFQKRLSDFKLYESELTLFSSPFSTKIDSVHEELQMEVIDLQCNTVL
                     KTKYDKVGIPEFYKYLWGSYPKYKHHCAKILSMFGSTYICEQLFSIMKLSKTKYCSQL
                     KDSQWDSVLHIAT"
     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..786
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            787..815
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            816..870
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            871..914
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            915..992
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1049
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1127
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1211
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1395
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1424
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..3539
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3520..3525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2IRD2"
                     /gene_synonym="FP630; GTF2IRD2 alpha; GTF2IRD2A"
                     /note="hexamer: ATTAAA"
     polyA_site      3539
                     /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 tggtaaagcc ttagggacaa cagtgatggt gcctgttccc tatgagaaga tgctgcgaga
      661 ccagtcggct gtggtagtgc aggggcttcc ggaaggcgtt gcctttcaac accctgagaa
      721 ttacgacctt gcaaccctga aatggatttt ggagaacaaa gcagggattt cattcatcat
      781 aaatagaccc ttcctaggac cagagagtca gctgggtggc cctgggatgg taacagatgc
      841 ggagagatcc atagtatcac caagtgaaag ctgcggcccc atcaatgtga aaactgaacc
      901 catggaagat tctggcattt cactgaaagc agaagctgtc tcagtcaaga aagaatcaga
      961 agatcctaat tactatcaat ataatatgca aggaagccac ccttcttcca caagcaatga
     1021 agtaatagaa atggaattac caatggaagg aaacacaaat tcatccagtg ttacaaattc
     1081 tgcagcaggt gttgaagatc ttaacatcgt tcaagtgact gttccagata atgagaagga
     1141 aagattatca agcattgaaa agattaaaca gctaagagaa caagttaatg acctctttag
     1201 ccgaaaattt ggtgaagcaa ttggcgtgga tttccctgtg aaagttccct acaggaagat
     1261 cacattcaac cctggctgtg tggtgattga tggcatgccc ccgggggtgg tattcaaggc
     1321 ccccggctat ctggaaatca gttccatgag gaggatcttg gaggcagctg agtttatcaa
     1381 attcacagtc atcaggccgc ttccagggct tgagctcagt aatgtgggaa aacgcaagat
     1441 agaccaggag ggccgtgtgt ttcaagaaaa gtgggagaga gcgtatttct tcgtggaagt
     1501 acagaatatt ccaacatgtc tcatatgcaa acaaagcatg tctgtgtcca aagaatataa
     1561 cctaagacgc cactatcaaa ccaatcacag caagcattat gaccagtata tggaaagaat
     1621 gcgtgacgag aagcttcacg agctgaaaaa agggctcagg aagtatctct taggctcatc
     1681 agacaccgag tgtcccgagc aaaaacaagt gtttgcaaac ccaagtccaa cccagaaatc
     1741 ccccgtgcag cctgtagagg acctagctgg gaacttatgg gagaagttac gtgaaaaaat
     1801 caggtctttt gtggcatatt ctatcgcaat cgatgagatc acggatataa ataataccac
     1861 ccagttggcc atattcatcc gtggtgtcga tgagaatttc gatgtgtccg aagaacttct
     1921 ggacacggtg cccatgacgg gtacaaaatc tggcaacgag atcttttcgc gtgttgagaa
     1981 aagcctgaaa aacttctgta tcgactggtc gaaattagta agcgtggcct ccactggcac
     2041 cccagcgatg gtggatgcca ataacgggct tgtcacaaaa ctgaagtcca gggtggcgac
     2101 gttctgcaag ggtgcggaac tgaagtccat ctgttgtata attcatccgg aatcactctg
     2161 tgctcagaag ttgaagatgg accacgtcat ggacgtggta gtgaagtccg tgaactggat
     2221 atgctcccgg ggactgaacc acagtgagtt cacaaccttg ctctatgagc tggacagcca
     2281 gtatggtagc ctcctgtact acacggagat taagtggctc agtcgcgggc tcgtgctaaa
     2341 gagatttttc gaatccttgg aagaaatcga ctccttcatg tcatccagag ggaaacccct
     2401 gcctcaactg agctccatag attggatccg agacctggcc ttcttggttg acatgacgat
     2461 gcatctgaac gctttgaaca tctctctcca aggacactcc caaatcgtca cgcagatgta
     2521 tgacctgatc cgggcgttcc tagcaaaact gtgcctctgg gagactcatt tgacgaggaa
     2581 taatctggcc cactttccca ccctgaaatt ggcttccaga aatgaaagcg atggcctgaa
     2641 ctacattccc aaaatcgcgg aactccagac cgaattccag aaaaggctgt ctgatttcaa
     2701 actctacgaa agcgaactga ctctgttcag ctccccgttc tccacgaaga tcgacagtgt
     2761 gcacgaggag ctccagatgg aggttatcga cctgcaatgc aacacggtcc tgaagacgaa
     2821 atacgacaag gtgggaatac cagaattcta caagtacctc tggggtagct acccgaaata
     2881 caagcaccat tgcgcaaaga ttctttccat gttcgggagc acctacatct gcgaacagct
     2941 gttctccatt atgaaactga gcaaaacaaa atactgctcc cagttaaagg attcccagtg
     3001 ggattctgta ctccacatcg caacgtgatg gagagaaaac tcctggcagg gccctatggt
     3061 gggaaaggct ggagtcttct agtcccaagg gattgggaga tgacaaaatg aatttttttt
     3121 tcttttttga gatggagtct tgctctgtcg cccaggttgg agtgcagtgg cgtgatctcg
     3181 gcttactgca acttccagct cctgggttcg aacgattctc ctgcctcagc ctcccgagca
     3241 gctgggacta caggcgtgcg ccaccatgcc tggctaattt ttgtattagt agagatgagg
     3301 tttcaccatg ttggccaggc tggtctccaa ctcctgacct caggtgatcc acctgcctcg
     3361 acctcacaaa gtgctgggat tacaggcatg aaccactgtg cccagctgac aaaatgagtt
     3421 cttaaacttt tttttttttc agtttttttt ccactttgaa tcagaaatat aatctgcagt
     3481 atcatacttg tttatattac attgtatgcc tcactattca ttaaaaatca agaaagttt
//
