LOCUS       NM_001003795            3551 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens GTF2I repeat domain containing 2B (GTF2IRD2B),
            transcript variant 1, mRNA.
ACCESSION   NM_001003795 XM_371925
VERSION     NM_001003795.3
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 3551)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3551)
  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 3551)
  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 3551)
  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
REFERENCE   5  (bases 1 to 3551)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY312850.1 and BX647624.1.
            
            On May 17, 2019 this sequence version replaced NM_001003795.2.
            
            Summary: This gene encodes a glycosylated phosphoprotein with a
            leucine zipper motif, two helix-loop-helix motifs (I repeats) that
            are similar to domains found in the TFII-I family of transcription
            factors, one CHARLIE8 transposable element-like sequence, and a BED
            zinc finger. This gene lies within a region that is deleted in
            Williams-Beuren syndrome. Alternatively spliced variants which
            encode different protein isoforms have been described; however, not
            all variants have been fully characterized. [provided by RefSeq,
            Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY312850.1, BC136849.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000472837.7/ ENSP00000480524.1
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3443              AY312850.1         10-3452
            3444-3551           BX647624.1         2951-3058
FEATURES             Location/Qualifiers
     source          1..3551
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3551
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="GTF2I repeat domain containing 2B"
                     /db_xref="GeneID:389524"
                     /db_xref="HGNC:HGNC:33125"
                     /db_xref="MIM:608900"
     exon            1..176
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            177..280
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             182..3031
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     general transcription factor II-I repeat domain-containing
                     protein 2B; general transcription factor 2 I repeat
                     domain-containing 2 beta; GTF2IRD2 beta; transcription
                     factor GTF2IRD2-beta; GTF2I repeat domain-containing
                     protein 2B; General transcription factor II-I repeat
                     domain-containing protein 2A; GTF2I repeat
                     domain-containing protein 2A; Transcription factor
                     GTF2IRD2-alpha"
                     /codon_start=1
                     /product="general transcription factor II-I repeat
                     domain-containing protein 2B isoform 1"
                     /protein_id="NP_001003795.1"
                     /db_xref="CCDS:CCDS34659.1"
                     /db_xref="GeneID:389524"
                     /db_xref="HGNC:HGNC:33125"
                     /db_xref="MIM:608900"
                     /translation="MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEV
                     ACIAVYETDVFVVGTERGCAFVNARTDFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSG
                     ETEILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQSAVVVQGLPEGVAFQHPENY
                     DLATLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESCGPINVKTE
                     PMEDSGISLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPS
                     EEPNEDPEAEVKIEGNTNSSSVTNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLRE
                     QVNDLFSRKFGEAIGVDFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRR
                     ILEAAEFIKFTVIRPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLIC
                     KQSMSVSKEYNLRRHYQTNHSKHYDQYTERMRDEKLHELKKGLRKYLLGSSDTECPEQ
                     KQVFANPSPTQKSPVQPVEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIF
                     IRGVDENFDVSEELLDTVPMTGTKSGNEIFLRVEKSLKKFCINWSRLVSVASTGTPAM
                     VDANNGLVTKLKSRVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWIC
                     SRGLNHSEFTTLLYELDSQYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKP
                     LPQLSSIDWIRDLAFLVDMTMHLNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHL
                     TRNNLAHFPTLKLVSRNESDGLNYIPKIAELKTEFQKRLSDFKLYESELTLFSSPFST
                     KIDSVHEELQMEVIDLQCNTVLKTKYDKVGIPEFYKYLWGSYPKYKHHCAKILSMFGS
                     TYICEQLFSIMKLSKTKYCSQLKDSQWDSVLHIAT"
     exon            281..419
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            420..539
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            540..723
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            724..752
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            753..807
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            808..851
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            852..929
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            930..986
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1052
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1130
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1214
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1398
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1427
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..3551
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3535..3540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="hexamer: AAGAAA"
     polyA_site      3551
                     /gene="GTF2IRD2B"
                     /gene_synonym="GTF2IRD2; GTF2IRD2A"
                     /note="major polyA site"
ORIGIN      
        1 agaaagagaa aaaggagggc gagtggcgag caggggcctc ggccgccacc cacacgcccc
       61 gaagcgtgct cgtcccccgc gcggggctcc cggccgccgc cctcggccat cggctgctcc
      121 ccggtggccc aggcctcgga ctccgcggcc ggcccggcgc ggcccagcgc cctcagggat
      181 catggcccag gtagcagtgt ccaccctgcc tgttgaagaa gagtcctcct cagagaccag
      241 gatggtggtg acattcctcg tgtctgccct cgaatccatg tgtaaagaac tggccaagtc
      301 caaggcagaa gtggcctgca tcgcagtgta cgaaacagac gtgtttgtcg tcggaaccga
      361 gagaggatgc gcttttgtta atgccaggac ggattttcag aaagattttg caaaatactg
      421 cgttgcagag ggactgtgtg aggtgaaacc tccctgccct gtgaacggga tgcaggtcca
      481 ctcgggcgaa acggaaatac tcaggaaggc agtggaggac tatttctgct tttgttatgg
      541 taaagcctta gggacaacag tgatggtgcc tgttccctat gagaagatgc tgcgagacca
      601 gtcggctgtg gtagtgcagg ggcttccgga aggcgttgcc tttcaacacc ctgagaatta
      661 cgaccttgca accctgaaat ggattttgga gaacaaagca gggatttcat tcatcataaa
      721 tagacccttc ctaggaccag agagtcagct gggtggccct gggatggtaa cagatgcgga
      781 gagatccata gtatcaccaa gtgaaagctg cggccccatc aatgtgaaaa ctgaacccat
      841 ggaagattct ggcatttcac tgaaagcaga agctgtctca gtcaagaaag aatcagaaga
      901 tcctaattac tatcaatata atatgcaagg aagccaccct tcttccacaa gcaatgaagt
      961 aatagaaatg gaattaccaa tggaagattc cactccgctg gtcccttcag aagaaccaaa
     1021 tgaggaccct gaagccgagg tgaaaatcga aggaaacaca aattcatcca gtgttacaaa
     1081 ttctgcagca ggtgttgaag atcttaacat cgttcaagtg actgttccag ataatgagaa
     1141 ggaaagatta tcaagcattg aaaagattaa acagctaaga gaacaagtta atgacctctt
     1201 tagccgaaaa tttggtgaag caattggcgt ggatttccct gtgaaagttc cctacaggaa
     1261 gatcacattc aaccctggct gtgtggtgat tgatggcatg cccccggggg tggtattcaa
     1321 ggcccccggc tatctggaaa tcagttccat gaggaggatc ttggaggcag ctgagtttat
     1381 caaattcaca gtcatcaggc cgcttccagg gcttgagctc agtaatgtgg gaaaacgcaa
     1441 gatagaccag gagggccgtg tgtttcaaga aaagtgggag agagcgtatt tcttcgtgga
     1501 agtacagaat attccaacat gtctcatatg caaacaaagc atgtctgtgt ccaaagaata
     1561 taacctaaga cgccactatc aaaccaatca cagcaagcat tatgaccagt atacggaaag
     1621 aatgcgtgac gagaagcttc acgagctgaa aaaagggctc aggaagtatc tcttaggctc
     1681 gtcagacacc gagtgtcccg agcaaaaaca agtgtttgca aacccaagtc caacccagaa
     1741 atcccccgtg cagcctgtag aggacctagc tgggaactta tgggagaagt tacgtgaaaa
     1801 aatcaggtct tttgtggcat attctatcgc aatcgatgag atcacggata taaataatac
     1861 cacccagttg gccatattca tccgtggtgt cgatgagaat ttcgatgtgt ccgaagaact
     1921 tctggacacg gtgcccatga cgggtacaaa atctggcaac gagatctttt tgcgtgttga
     1981 gaagagcctg aaaaagttct gtatcaactg gtcgagatta gtaagcgtgg cctccactgg
     2041 caccccagcg atggtggatg ccaataacgg gcttgtcaca aaactgaagt ccagggtggc
     2101 gacgttctgc aagggtgcgg aactgaagtc catctgttgt ataattcatc cggaatcact
     2161 ctgtgctcag aagttgaaga tggaccacgt catggacgtg gtagtgaagt ccgtgaactg
     2221 gatatgctcc cggggactga accacagcga gttcacaacc ttgctctatg agctggacag
     2281 ccagtatggt agcctcctgt actacacgga gattaagtgg ctcagtcgcg ggctcgtgct
     2341 aaagagattt ttcgaatcct tggaagaaat cgactccttc atgtcatcca gagggaaacc
     2401 cctgcctcaa ctgagctcca tagattggat ccgagacctg gccttcttgg ttgacatgac
     2461 gatgcatctg aacgctttga acatctctct ccaaggacac tcccaaatcg tcacgcagat
     2521 gtatgacctg atccgggcgt tcctagcaaa actgtgcctc tgggagactc atttgacgag
     2581 gaataatctg gcccactttc ccaccctgaa attggtttcc agaaatgaaa gcgatggcct
     2641 gaactacatt cccaaaatcg cggaactcaa gaccgaattc cagaaaaggc tgtctgattt
     2701 caaactctac gaaagcgaac tgactctgtt cagctccccg ttctccacga agatcgacag
     2761 tgtgcacgag gagctccaga tggaggttat cgacctgcaa tgcaacacgg tcctgaagac
     2821 gaaatacgac aaggtgggaa taccagaatt ctacaagtac ctctggggta gctacccgaa
     2881 atacaagcac cattgcgcaa agattctttc catgttcggg agcacctaca tctgcgaaca
     2941 gctgttctcc attatgaaac tgagcaaaac aaaatactgc tcccagttaa aggattccca
     3001 gtgggattct gtactccaca tcgcaacgtg atggagagaa aactcctggc agggccctat
     3061 ggtgggaaag gctggagtct tctagtccca agggattggg agatgacaaa atgaattttt
     3121 tttttctttt ttgagatgga gtcttgctct gtcgcccagg ttggagtgca gtggcgtgat
     3181 ctcggcttac tgcaacttcc agctcctggg ttcgaacgat tctcctgcct cagcctcccg
     3241 agcagctggg actacaggca tgcgccacca tgcccggcta atttttgtat tagtagagat
     3301 gaggtttcac catgttggcc aggctggtct ccaactcctg acctcaggtg atccacctgc
     3361 ctcgacctca caaagtgctg ggattacagg catgaaccac tgtgcccagc tgacaaaatg
     3421 agttcttaaa cttttttttt ttttcagttt tttttccact ttgaatcaga aatataatct
     3481 gcagtatcat acttgtttat attacattgt atgcctcact attcattaaa aatcaagaaa
     3541 gttttattgt a
//
