LOCUS       NM_001109878            2363 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens T-box transcription factor 22 (TBX22), transcript
            variant 1, mRNA.
ACCESSION   NM_001109878
VERSION     NM_001109878.2
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 2363)
  AUTHORS   Slavec,L., Gersak,K., Eberlinc,A., Hovnik,T., Lovrecic,L.,
            Mlinaric-Rascan,I. and Karas Kuzelicki,N.
  TITLE     A Comprehensive Genetic Analysis of Slovenian Families with
            Multiple Cases of Orofacial Clefts Reveals Novel Variants in the
            Genes IRF6, GRHL3, and TBX22
  JOURNAL   Int J Mol Sci 24 (5), 4262 (2023)
   PUBMED   36901693
  REMARK    GeneRIF: A Comprehensive Genetic Analysis of Slovenian Families
            with Multiple Cases of Orofacial Clefts Reveals Novel Variants in
            the Genes IRF6, GRHL3, and TBX22.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2363)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2363)
  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   4  (bases 1 to 2363)
  AUTHORS   Dai,J., Xu,C., Wang,G., Liang,Y., Wan,T., Zhang,Y., Xu,X., Yu,L.,
            Che,Z., Han,Q., Wu,D. and Yang,Y.
  TITLE     Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate
            families
  JOURNAL   J Genet 97 (2), 411-417 (2018)
   PUBMED   29932061
  REMARK    GeneRIF: Findings indicate the important role of T-box 22 protein
            (TBX22) in familial cases with X-linked cleft palate.
REFERENCE   5  (bases 1 to 2363)
  AUTHORS   Marcano,A.C., Doudney,K., Braybrook,C., Squires,R., Patton,M.A.,
            Lees,M.M., Richieri-Costa,A., Lidral,A.C., Murray,J.C., Moore,G.E.
            and Stanier,P.
  TITLE     TBX22 mutations are a frequent cause of cleft palate
  JOURNAL   J Med Genet 41 (1), 68-74 (2004)
   PUBMED   14729838
  REMARK    GeneRIF: Four novel TBX22 splice site mutations in North American
            and Brazilian cleft palate families.
REFERENCE   6  (bases 1 to 2363)
  AUTHORS   Packham,E.A. and Brook,J.D.
  TITLE     T-box genes in human disorders
  JOURNAL   Hum Mol Genet 12 Spec No 1, R37-R44 (2003)
   PUBMED   12668595
  REMARK    Review article
REFERENCE   7  (bases 1 to 2363)
  AUTHORS   Braybrook,C., Lisgo,S., Doudney,K., Henderson,D., Marcano,A.C.,
            Strachan,T., Patton,M.A., Villard,L., Moore,G.E., Stanier,P. and
            Lindsay,S.
  TITLE     Craniofacial expression of human and murine TBX22 correlates with
            the cleft palate and ankyloglossia phenotype observed in CPX
            patients
  JOURNAL   Hum Mol Genet 11 (22), 2793-2804 (2002)
   PUBMED   12374769
  REMARK    GeneRIF: Craniofacial expression of human and murine TBX22
            correlates with the cleft palate and ankyloglossia (CPX) phenotype
            observed in CPX patients.
REFERENCE   8  (bases 1 to 2363)
  AUTHORS   Aldred,M.A.
  TITLE     Cleft lip and palate: new genetic clues
  JOURNAL   Trends Mol Med 7 (12), 539-540 (2001)
   PUBMED   11733204
REFERENCE   9  (bases 1 to 2363)
  AUTHORS   Braybrook,C., Doudney,K., Marcano,A.C., Arnason,A., Bjornsson,A.,
            Patton,M.A., Goodfellow,P.J., Moore,G.E. and Stanier,P.
  TITLE     The T-box transcription factor gene TBX22 is mutated in X-linked
            cleft palate and ankyloglossia
  JOURNAL   Nat Genet 29 (2), 179-183 (2001)
   PUBMED   11559848
REFERENCE   10 (bases 1 to 2363)
  AUTHORS   Laugier-Anfossi,F. and Villard,L.
  TITLE     Molecular characterization of a new human T-box gene (TBX22)
            located in xq21.1 encoding a protein containing a truncated
            T-domain
  JOURNAL   Gene 255 (2), 289-296 (2000)
   PUBMED   11024289
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031000.1, AK097514.1,
            DB456367.1 and AY035371.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001109878.1.
            
            Summary: This gene is a member of a phylogenetically conserved
            family of genes that share a common DNA-binding domain, the T-box.
            T-box genes encode transcription factors involved in the regulation
            of developmental processes. Mutations in this gene have been
            associated with the inherited X-linked disorder, Cleft palate with
            ankyloglossia, and it is believed to play a major role in human
            palatogenesis. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Both variants 1 and
            2 encode the same isoform.
            
            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 :: SRR5189667.204827.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373296.8/ ENSP00000362393.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AL031000.1         82328-82330         c
            4-389               AK097514.1         1-386
            390-520             DB456367.1         381-511
            521-2358            AY035371.1         390-2227
            2359-2363           AL031000.1         65309-65313         c
FEATURES             Location/Qualifiers
     source          1..2363
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..2363
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /note="T-box transcription factor 22"
                     /db_xref="GeneID:50945"
                     /db_xref="HGNC:HGNC:11600"
                     /db_xref="MIM:300307"
     exon            1..135
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            136..312
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1700
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /note="isoform 1 is encoded by transcript variant 1; T-box
                     transcription factor TBX22; T-box protein 22; T-box 22"
                     /codon_start=1
                     /product="T-box transcription factor TBX22 isoform 1"
                     /protein_id="NP_001103348.1"
                     /db_xref="CCDS:CCDS14445.1"
                     /db_xref="GeneID:50945"
                     /db_xref="HGNC:HGNC:11600"
                     /db_xref="MIM:300307"
                     /translation="MALSSRARAFSVEALVGRPSKRKLQDPIQAEQPELREKKGGEEE
                     EERRSSAAGKSEPLEKQPKTEPSTSASSGCGSDSGYGNSSESLEEKDIQMELQGSELW
                     KRFHDIGTEMIITKAGRRMFPSVRVKVKGLDPGKQYHVAIDVVPVDSKRYRYVYHSSQ
                     WMVAGNTDHLCIIPRFYVHPDSPCSGETWMRQIISFDRMKLTNNEMDDKGHIILQSMH
                     KYKPRVHVIEQGSSVDLSQIQSLPTEGVKTFSFKETEFTTVTAYQNQQITKLKIERNP
                     FAKGFRDTGRNRGVLDGLLETYPWRPSFTLDFKTFGADTQSGSSGSSPVTSSGGAPSP
                     LNSLLSPLCFSPMFHLPTSSLGMPCPEAYLPNVNLPLCYKICPTNFWQQQPLVLPAPE
                     RLASSNSSQSLAPLMMEVPMLSSLGVTNSKSGSSEDSSDQYLQAPNSTNQMLYGLQSP
                     GNIFLPNSITPEALSCSFHPSYDFYRYNFSMPSRLISGSNHLKVNDDSQVSFGEGKCN
                     HVHWYPAINHYL"
     exon            313..493
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            494..595
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            596..770
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            771..935
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1000
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1086
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..2363
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1943..1948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /note="hexamer: AATAAA"
     polyA_site      1963
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
     regulatory      2338..2343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /note="hexamer: AATAAA"
     polyA_site      2363
                     /gene="TBX22"
                     /gene_synonym="ABERS; CLPA; CPX; dJ795G23.1; TBXX"
                     /note="major polyA site"
ORIGIN      
        1 actcttctct gggctcttga gaagagctgc tgcaggcatt tgcagagtga atgagctctg
       61 actgagactt gacttcagaa ccactgggct ggcctggcct cttgacacag caacacactg
      121 cttcttgcct tccagggatg gctctgagct ctcgggcgcg tgccttctcc gtggaagcct
      181 tggtggggag acccagcaaa agaaaactcc aagacccaat acaggcggag cagcctgagc
      241 tgcgggagaa aaagggcgga gaggaagagg aggagagaag gagcagcgct gcagggaaga
      301 gcgagccgct tgaaaaacaa cctaagacag agccctcaac atctgcttcc tctggctgcg
      361 gcagcgacag cggctacggc aacagctctg aaagtctgga agagaaagat attcaaatgg
      421 agcttcaagg atctgaactg tggaaaagat tccatgacat cgggactgag atgatcatta
      481 ctaaagcggg caggcggatg ttcccctctg ttcgggtcaa ggtgaaaggg ttggatccag
      541 ggaagcagta ccatgtggcc atcgatgtgg tgccggtgga ttccaaacgc tataggtacg
      601 tctatcacag ctcacagtgg atggtagctg ggaatacaga ccatttgtgc atcattccta
      661 gattctatgt tcacccggac tcaccctgct cgggagagac ctggatgcgg cagatcatca
      721 gctttgatcg catgaaactc accaacaatg agatggatga caaaggccac atcattctgc
      781 aatccatgca taagtacaaa ccccgagtgc acgtgataga gcaaggcagc agtgttgacc
      841 tgtcccagat tcagtccttg cccactgaag gtgttaaaac attctccttt aaagaaactg
      901 agttcaccac agtaacggct taccaaaacc aacagattac gaaactaaaa atagaaagaa
      961 atccttttgc taaaggattt agagatactg gaagaaacag gggtgtattg gatgggcttt
     1021 tagagaccta cccatggagg ccttctttca ctctcgattt taaaaccttt ggcgcagaca
     1081 cacaaagtgg aagcagtggc tcatctccag tgacctctag tggaggggcc ccctctcctt
     1141 tgaactcctt actttctcca ctttgctttt cacctatgtt tcatttacct acaagctccc
     1201 ttggaatgcc ctgtccagag gcatacctgc ccaatgtcaa cctgcctcta tgctacaaga
     1261 tttgtccaac taatttttgg caacagcaac ctcttgtttt accggctcct gaaagactag
     1321 caagcagcaa cagttctcag tctttagccc cactcatgat ggaagtgcct atgttatctt
     1381 ccctgggggt caccaattca aaaagcggtt catctgaaga ctccagtgat cagtatctac
     1441 aagcacctaa ttctaccaat caaatgttat atggattaca gtcacctgga aatatttttc
     1501 tgccaaactc catcacccca gaagcactta gttgctcctt tcatccttcc tatgactttt
     1561 atagatacaa tttctctatg ccatctagac tgataagtgg ttccaaccat cttaaagtga
     1621 atgacgacag tcaagtttct tttggagaag gcaaatgtaa tcatgttcat tggtatccag
     1681 caattaacca ttacctttag taagacaata gcatttctag aacaattaca tgtaaacaaa
     1741 tattttcttt atttgtagcc aaagaaattt caacagttat tgggcttaaa aagcatcatt
     1801 acaatacagt atttctttgt tatacattta aagatttaaa gtgccttatc aaataatatt
     1861 catgaagagt tgtttataat gtcaaatgaa acctacagga atctctgatt acagtggcct
     1921 tgagcttcaa aatgagatat gcaataaata ttatttgatg atactccacc agtgaaaatt
     1981 gatgctaagt gatgggattt tcaattatac tgaagctagt tcaccacgtt aactgcattt
     2041 tacacattga caatgacaaa aagaagatgg atgtaattct catgaaagca gtgaagcaat
     2101 ttcagtttta aaaatgaaga tcggctttca tgtaattatc tagtagttgt agaagaaaat
     2161 ttaattattt gtttgcctca tgcctttata ctttgctgtt gaagaaacta ctaatctcaa
     2221 tttaagatac aaataaggac acaaactttc aagtattata ttttatttat ctttgtagcc
     2281 taaagaccat ttaatcttga aggaacacaa agatcaaatg aaaagtaaaa cactctaaat
     2341 aaatttgctt ttattttctt tta
//
