TBX20_HUMAN
ID TBX20_HUMAN Reviewed; 447 AA.
AC Q9UMR3; A4D1Y6; Q000T4; Q0IJ70; Q0VAS1; Q9Y2N5;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 31-MAY-2011, sequence version 4.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=T-box transcription factor TBX20;
DE Short=T-box protein 20;
GN Name=TBX20;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Toenjes M., Sperling S.;
RT "Identification of a new human TBX20 splice variant.";
RL Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E.,
RA Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.;
RL Submitted (MAR-2010) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 97-296.
RC TISSUE=Fetal eye;
RX PubMed=10936053; DOI=10.1006/geno.2000.6249;
RA Meins M., Henderson D.J., Bhattacharya S.S., Sowden J.C.;
RT "Characterization of the human TBX20 gene, a new member of the T-box gene
RT family closely related to the Drosophila H15 gene.";
RL Genomics 67:317-332(2000).
RN [7]
RP VARIANT ASD4 MET-152.
RX PubMed=17668378; DOI=10.1086/519530;
RA Kirk E.P., Sunde M., Costa M.W., Rankin S.A., Wolstein O., Castro M.L.,
RA Butler T.L., Hyun C., Guo G., Otway R., Mackay J.P., Waddell L.B.,
RA Cole A.D., Hayward C., Keogh A., Macdonald P., Griffiths L., Fatkin D.,
RA Sholler G.F., Zorn A.M., Feneley M.P., Winlaw D.S., Harvey R.P.;
RT "Mutations in cardiac T-box factor gene TBX20 are associated with diverse
RT cardiac pathologies, including defects of septation and valvulogenesis and
RT cardiomyopathy.";
RL Am. J. Hum. Genet. 81:280-291(2007).
RN [8]
RP VARIANTS ASD4 MET-121 AND MET-152, AND CHARACTERIZATION OF VARIANTS ASD4
RP MET-121 AND MET-152.
RX PubMed=19762328; DOI=10.1136/jmg.2009.069997;
RA Posch M.G., Gramlich M., Sunde M., Schmitt K.R., Lee S.H., Richter S.,
RA Kersten A., Perrot A., Panek A.N., Al Khatib I.H., Nemer G., Megarbane A.,
RA Dietz R., Stiller B., Berger F., Harvey R.P., Ozcelik C.;
RT "A gain-of-function TBX20 mutation causes congenital atrial septal defects,
RT patent foramen ovale and cardiac valve defects.";
RL J. Med. Genet. 47:230-235(2010).
CC -!- FUNCTION: Acts as a transcriptional activator and repressor required
CC for cardiac development and may have key roles in the maintenance of
CC functional and structural phenotypes in adult heart. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- DISEASE: Atrial septal defect 4 (ASD4) [MIM:611363]: A congenital heart
CC malformation characterized by incomplete closure of the wall between
CC the atria resulting in blood flow from the left to the right atria.
CC Patients show other heart abnormalities including defects in septation,
CC chamber growth and valvulogenesis. The disease is not associated with
CC defects in the cardiac conduction system or with non-cardiac
CC abnormalities. {ECO:0000269|PubMed:17668378,
CC ECO:0000269|PubMed:19762328}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD21787.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=AAI20946.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAI20946.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=AAI20947.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; DQ986374; ABJ15760.1; -; mRNA.
DR EMBL; HM015599; ADL14520.1; -; Genomic_DNA.
DR EMBL; AC005826; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC009531; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006379; AAD21787.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH236951; EAL23971.1; -; Genomic_DNA.
DR EMBL; BC120945; AAI20946.1; ALT_SEQ; mRNA.
DR EMBL; BC120946; AAI20947.1; ALT_SEQ; mRNA.
DR EMBL; AJ237589; CAB51916.1; -; mRNA.
DR CCDS; CCDS43568.1; -.
DR RefSeq; NP_001071121.1; NM_001077653.2.
DR RefSeq; NP_001159692.1; NM_001166220.1.
DR AlphaFoldDB; Q9UMR3; -.
DR SMR; Q9UMR3; -.
DR BioGRID; 121349; 16.
DR CORUM; Q9UMR3; -.
DR IntAct; Q9UMR3; 8.
DR STRING; 9606.ENSP00000386170; -.
DR iPTMnet; Q9UMR3; -.
DR PhosphoSitePlus; Q9UMR3; -.
DR BioMuta; TBX20; -.
DR DMDM; 334302934; -.
DR MassIVE; Q9UMR3; -.
DR PaxDb; Q9UMR3; -.
DR PeptideAtlas; Q9UMR3; -.
DR PRIDE; Q9UMR3; -.
DR ProteomicsDB; 85197; -.
DR Antibodypedia; 1814; 155 antibodies from 24 providers.
DR DNASU; 57057; -.
DR Ensembl; ENST00000408931.4; ENSP00000386170.3; ENSG00000164532.11.
DR GeneID; 57057; -.
DR KEGG; hsa:57057; -.
DR MANE-Select; ENST00000408931.4; ENSP00000386170.3; NM_001077653.2; NP_001071121.1.
DR UCSC; uc011kas.3; human.
DR CTD; 57057; -.
DR DisGeNET; 57057; -.
DR GeneCards; TBX20; -.
DR HGNC; HGNC:11598; TBX20.
DR HPA; ENSG00000164532; Tissue enriched (heart).
DR MalaCards; TBX20; -.
DR MIM; 606061; gene.
DR MIM; 611363; phenotype.
DR neXtProt; NX_Q9UMR3; -.
DR OpenTargets; ENSG00000164532; -.
DR Orphanet; 99103; Atrial septal defect, ostium secundum type.
DR PharmGKB; PA36361; -.
DR VEuPathDB; HostDB:ENSG00000164532; -.
DR eggNOG; KOG3586; Eukaryota.
DR GeneTree; ENSGT00940000158741; -.
DR HOGENOM; CLU_014430_7_1_1; -.
DR InParanoid; Q9UMR3; -.
DR OMA; KEPSENT; -.
DR OrthoDB; 828211at2759; -.
DR PhylomeDB; Q9UMR3; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; Q9UMR3; -.
DR SignaLink; Q9UMR3; -.
DR BioGRID-ORCS; 57057; 7 hits in 1089 CRISPR screens.
DR GenomeRNAi; 57057; -.
DR Pharos; Q9UMR3; Tbio.
DR PRO; PR:Q9UMR3; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9UMR3; protein.
DR Bgee; ENSG00000164532; Expressed in right atrium auricular region and 39 other tissues.
DR Genevisible; Q9UMR3; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; ISS:BHF-UCL.
DR GO; GO:0005634; C:nucleus; ISS:BHF-UCL.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:BHF-UCL.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:BHF-UCL.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; ISS:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0003180; P:aortic valve morphogenesis; IMP:BHF-UCL.
DR GO; GO:0060413; P:atrial septum morphogenesis; IMP:BHF-UCL.
DR GO; GO:0036302; P:atrioventricular canal development; ISS:BHF-UCL.
DR GO; GO:0003171; P:atrioventricular valve development; ISS:BHF-UCL.
DR GO; GO:0008015; P:blood circulation; IEA:Ensembl.
DR GO; GO:0001569; P:branching involved in blood vessel morphogenesis; IEA:Ensembl.
DR GO; GO:0003207; P:cardiac chamber formation; ISS:BHF-UCL.
DR GO; GO:0055008; P:cardiac muscle tissue morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003215; P:cardiac right ventricle morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003279; P:cardiac septum development; ISS:BHF-UCL.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0008283; P:cell population proliferation; IEA:Ensembl.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:BHF-UCL.
DR GO; GO:0036306; P:embryonic heart tube elongation; IEA:Ensembl.
DR GO; GO:0003143; P:embryonic heart tube morphogenesis; ISS:BHF-UCL.
DR GO; GO:0003272; P:endocardial cushion formation; ISS:BHF-UCL.
DR GO; GO:0003203; P:endocardial cushion morphogenesis; ISS:BHF-UCL.
DR GO; GO:0001706; P:endoderm formation; ISS:BHF-UCL.
DR GO; GO:0035922; P:foramen ovale closure; IMP:BHF-UCL.
DR GO; GO:0001947; P:heart looping; ISS:BHF-UCL.
DR GO; GO:0048370; P:lateral mesoderm formation; ISS:BHF-UCL.
DR GO; GO:0014031; P:mesenchymal cell development; ISS:BHF-UCL.
DR GO; GO:0097475; P:motor neuron migration; IEA:Ensembl.
DR GO; GO:0006936; P:muscle contraction; IEA:Ensembl.
DR GO; GO:0010991; P:negative regulation of SMAD protein complex assembly; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:BHF-UCL.
DR GO; GO:0003148; P:outflow tract septum morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003344; P:pericardium morphogenesis; ISS:BHF-UCL.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; ISS:BHF-UCL.
DR GO; GO:0060045; P:positive regulation of cardiac muscle cell proliferation; ISS:BHF-UCL.
DR GO; GO:0010718; P:positive regulation of epithelial to mesenchymal transition; IEA:Ensembl.
DR GO; GO:0003193; P:pulmonary valve formation; ISS:BHF-UCL.
DR GO; GO:0060577; P:pulmonary vein morphogenesis; IMP:BHF-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0003175; P:tricuspid valve development; ISS:BHF-UCL.
DR GO; GO:0001570; P:vasculogenesis; IBA:GO_Central.
DR GO; GO:0021524; P:visceral motor neuron differentiation; ISS:BHF-UCL.
DR CDD; cd00182; TBOX; 1.
DR Gene3D; 2.60.40.820; -; 1.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR046360; T-box_DNA-bd.
DR InterPro; IPR036960; T-box_sf.
DR InterPro; IPR001699; TF_T-box.
DR InterPro; IPR018186; TF_T-box_CS.
DR PANTHER; PTHR11267; PTHR11267; 2.
DR Pfam; PF00907; T-box; 1.
DR PRINTS; PR00937; TBOX.
DR SMART; SM00425; TBOX; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS01283; TBOX_1; 1.
DR PROSITE; PS01264; TBOX_2; 1.
DR PROSITE; PS50252; TBOX_3; 1.
PE 1: Evidence at protein level;
KW Atrial septal defect; Cardiomyopathy; Developmental protein;
KW Disease variant; DNA-binding; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..447
FT /note="T-box transcription factor TBX20"
FT /id="PRO_0000184451"
FT DNA_BIND 109..288
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 62..81
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 316..340
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 326..340
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 121
FT /note="I -> M (in ASD4; significant gain of function in
FT sequence-specific DNA binding transcription factor
FT activity; gain of function in sequence-specific DNA binding
FT transcription factor activity in the presence of
FT cotranscription factors NKX2-5 and GATA4 or GATA5;
FT dbSNP:rs267607106)"
FT /evidence="ECO:0000269|PubMed:19762328"
FT /id="VAR_073144"
FT VARIANT 152
FT /note="I -> M (in ASD4; gain of function in sequence-
FT specific DNA binding transcription factor activity; gain of
FT function in sequence-specific DNA binding transcription
FT factor activity in the presence of cotranscription factors
FT NKX2-5 and GATA4 or GATA5; dbSNP:rs137852954)"
FT /evidence="ECO:0000269|PubMed:17668378,
FT ECO:0000269|PubMed:19762328"
FT /id="VAR_036995"
SQ SEQUENCE 447 AA; 49232 MW; A6B43488373D81D1 CRC64;
MEFTASPKPQ LSSRANAFSI AALMSSGGSK EKEATENTIK PLEQFVEKSS CAQPLGELTS
LDAHGEFGGG SGSSPSSSSL CTEPLIPTTP IIPSEEMAKI ACSLETKELW DKFHELGTEM
IITKSGRRMF PTIRVSFSGV DPEAKYIVLM DIVPVDNKRY RYAYHRSSWL VAGKADPPLP
ARLYVHPDSP FTGEQLLKQM VSFEKVKLTN NELDQHGHII LNSMHKYQPR VHIIKKKDHT
ASLLNLKSEE FRTFIFPETV FTAVTAYQNQ LITKLKIDSN PFAKGFRDSS RLTDIERESV
ESLIQKHSYA RSPIRTYGGE EDVLGDESQT TPNRGSAFTT SDNLSLSSWV SSSSSFPGFQ
HPQSLTALGT STASIATPIP HPIQGSLPPY SRLGMPLTPS AIASSMQGSG PTFPSFHMPR
YHHYFQQGPY AAIQGLRHSS AVMTPFV
