TBX20_MOUSE
ID TBX20_MOUSE Reviewed; 445 AA.
AC Q9ES03; Q9EPZ5; Q9ESX1;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 3.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=T-box transcription factor TBX20;
DE Short=T-box protein 20;
GN Name=Tbx20; Synonyms=Tbx12;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RX PubMed=10940636; DOI=10.1016/s0925-4773(00)00376-2;
RA Carson C.T., Kinzler E.R., Parr B.A.;
RT "Tbx12, a novel T-box gene, is expressed during early stages of heart and
RT retinal development.";
RL Mech. Dev. 96:137-140(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Fetal heart;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC STRAIN=NIH Swiss; TISSUE=Embryonic heart;
RX PubMed=11118890; DOI=10.1016/s0925-4773(00)00499-8;
RA Kraus F., Haenig B., Kispert A.;
RT "Cloning and expression analysis of the mouse T-box gene tbx20.";
RL Mech. Dev. 100:87-91(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [5]
RP DISRUPTION PHENOTYPE.
RX PubMed=15901664; DOI=10.1242/dev.01854;
RA Singh M.K., Christoffels V.M., Dias J.M., Trowe M.O., Petry M.,
RA Schuster-Gossler K., Burger A., Ericson J., Kispert A.;
RT "Tbx20 is essential for cardiac chamber differentiation and repression of
RT Tbx2.";
RL Development 132:2697-2707(2005).
RN [6]
RP FUNCTION.
RX PubMed=22328084; DOI=10.1093/hmg/dds034;
RA Sakabe N.J., Aneas I., Shen T., Shokri L., Park S.Y., Bulyk M.L.,
RA Evans S.M., Nobrega M.A.;
RT "Dual transcriptional activator and repressor roles of TBX20 regulate adult
RT cardiac structure and function.";
RL Hum. Mol. Genet. 21:2194-2204(2012).
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.
CC {ECO:0000269|PubMed:22328084}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9ES03-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9ES03-2; Sequence=VSP_021730;
CC -!- TISSUE SPECIFICITY: Prominently expressed in the extraembryonic
CC mesoderm, developing heart, eye analage and motor neurons of hindbrain
CC and spinal cord. Expressed in extraembryonic tissues such as the amnion
CC and allantois. {ECO:0000269|PubMed:11118890}.
CC -!- DEVELOPMENTAL STAGE: Between 7.25 dpc and 8 dpc, expression detected in
CC the extraembryonic mesoderm and contributes to amnion and chorion.
CC Allantois expression persists until 10.5 dpc and continues into the
CC umbilical cord. Expression is found throughout heart development. At
CC 7.5 dpc, detected in the cardiogenic mesoderm, at 8.0 dpc-8.5, found in
CC the cardiac crescent and looping heart tube and from 9.5 dpc, found in
CC the forming four-chambered heart. At all stages, expression is much
CC stronger in the myocardium than in the endocardium and expression
CC extends from the cardiogenic into the lateral plate mesoderm. From 10.5
CC dpc on, weakly expressed in the periphery of the liver lobes, and in
CC cells surrounding the aorta in the urogenital system. At 9.0 dpc,
CC weakly expressed in the dorsal half of the optic vesicle. Later,
CC expression spreads ventrally to enclose the entire neural retina at
CC 11.5 dpc. At 9.0 dpc, expression is initiated in the hindbrain: first
CC in the ventral region of rhombomere (r) 2 and 4, then in r7, r8 and in
CC the cervical spinal cord. By 10.5 dpc, two ventral stripes of Tbx20
CC containing cells are continuous from r2 into the cervical spinal cord
CC and expression is seen in two symmetrical patches of cell bodies in the
CC mantle region of the ventral neural tube. At 11.5 dpc, expression
CC follows the migration of motor neurons. {ECO:0000269|PubMed:11118890}.
CC -!- DISRUPTION PHENOTYPE: Embryos die at mid-gestation. The heart tube of
CC deficient mice does not elongate, but anterior and secondary heart
CC field markers are not affected. {ECO:0000269|PubMed:15901664}.
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DR EMBL; AF260557; AAG15491.1; -; mRNA.
DR EMBL; AJ277486; CAC04520.1; -; mRNA.
DR EMBL; AF306667; AAG48599.1; -; mRNA.
DR EMBL; AK141251; BAE24617.1; -; mRNA.
DR CCDS; CCDS22933.1; -. [Q9ES03-1]
DR CCDS; CCDS52744.1; -. [Q9ES03-2]
DR RefSeq; NP_001192014.1; NM_001205085.1.
DR RefSeq; NP_065242.1; NM_020496.3. [Q9ES03-2]
DR RefSeq; NP_919239.1; NM_194263.2. [Q9ES03-1]
DR AlphaFoldDB; Q9ES03; -.
DR SMR; Q9ES03; -.
DR BioGRID; 208216; 1.
DR CORUM; Q9ES03; -.
DR IntAct; Q9ES03; 2.
DR STRING; 10090.ENSMUSP00000052591; -.
DR iPTMnet; Q9ES03; -.
DR PhosphoSitePlus; Q9ES03; -.
DR PaxDb; Q9ES03; -.
DR PRIDE; Q9ES03; -.
DR ProteomicsDB; 254668; -. [Q9ES03-1]
DR ProteomicsDB; 254669; -. [Q9ES03-2]
DR Antibodypedia; 1814; 155 antibodies from 24 providers.
DR DNASU; 57246; -.
DR Ensembl; ENSMUST00000052946; ENSMUSP00000052591; ENSMUSG00000031965. [Q9ES03-1]
DR Ensembl; ENSMUST00000166018; ENSMUSP00000126318; ENSMUSG00000031965. [Q9ES03-2]
DR GeneID; 57246; -.
DR KEGG; mmu:57246; -.
DR UCSC; uc009ope.2; mouse. [Q9ES03-1]
DR CTD; 57057; -.
DR MGI; MGI:1888496; Tbx20.
DR VEuPathDB; HostDB:ENSMUSG00000031965; -.
DR eggNOG; KOG3586; Eukaryota.
DR GeneTree; ENSGT00940000158741; -.
DR HOGENOM; CLU_014430_7_1_1; -.
DR InParanoid; Q9ES03; -.
DR OMA; KEPSENT; -.
DR OrthoDB; 828211at2759; -.
DR PhylomeDB; Q9ES03; -.
DR TreeFam; TF106341; -.
DR BioGRID-ORCS; 57246; 1 hit in 75 CRISPR screens.
DR ChiTaRS; Tbx20; mouse.
DR PRO; PR:Q9ES03; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q9ES03; protein.
DR Bgee; ENSMUSG00000031965; Expressed in aortic valve and 122 other tissues.
DR ExpressionAtlas; Q9ES03; baseline and differential.
DR Genevisible; Q9ES03; MM.
DR GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
DR GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
DR GO; GO:0003677; F:DNA binding; IDA:MGI.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:MGI.
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; IDA:NTNU_SB.
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; IPI:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0003176; P:aortic valve development; IMP:BHF-UCL.
DR GO; GO:0003180; P:aortic valve morphogenesis; ISO:MGI.
DR GO; GO:0060413; P:atrial septum morphogenesis; ISO:MGI.
DR GO; GO:0036302; P:atrioventricular canal development; IMP:BHF-UCL.
DR GO; GO:0003171; P:atrioventricular valve development; IMP:BHF-UCL.
DR GO; GO:0008015; P:blood circulation; IMP:MGI.
DR GO; GO:0001569; P:branching involved in blood vessel morphogenesis; IMP:MGI.
DR GO; GO:0003207; P:cardiac chamber formation; IMP:BHF-UCL.
DR GO; GO:0055008; P:cardiac muscle tissue morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003215; P:cardiac right ventricle morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003279; P:cardiac septum development; IMP:BHF-UCL.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IMP:MGI.
DR GO; GO:0035050; P:embryonic heart tube development; IMP:MGI.
DR GO; GO:0036306; P:embryonic heart tube elongation; IMP:BHF-UCL.
DR GO; GO:0003143; P:embryonic heart tube morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003272; P:endocardial cushion formation; IMP:BHF-UCL.
DR GO; GO:0003203; P:endocardial cushion morphogenesis; IMP:BHF-UCL.
DR GO; GO:0035922; P:foramen ovale closure; ISO:MGI.
DR GO; GO:0001947; P:heart looping; IMP:BHF-UCL.
DR GO; GO:0014031; P:mesenchymal cell development; IMP:BHF-UCL.
DR GO; GO:0097475; P:motor neuron migration; IMP:MGI.
DR GO; GO:0006936; P:muscle contraction; IMP:MGI.
DR GO; GO:0010991; P:negative regulation of SMAD protein complex assembly; IDA:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IMP:BHF-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:MGI.
DR GO; GO:0003151; P:outflow tract morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003148; P:outflow tract septum morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003344; P:pericardium morphogenesis; IMP:BHF-UCL.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; IMP:BHF-UCL.
DR GO; GO:0060045; P:positive regulation of cardiac muscle cell proliferation; IMP:BHF-UCL.
DR GO; GO:0010718; P:positive regulation of epithelial to mesenchymal transition; IMP:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
DR GO; GO:0003193; P:pulmonary valve formation; IMP:BHF-UCL.
DR GO; GO:0060577; P:pulmonary vein morphogenesis; ISO:MGI.
DR GO; GO:0010717; P:regulation of epithelial to mesenchymal transition; NAS: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; IMP:BHF-UCL.
DR GO; GO:0001570; P:vasculogenesis; IBA:GO_Central.
DR GO; GO:0021524; P:visceral motor neuron differentiation; IMP: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 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; DNA-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..445
FT /note="T-box transcription factor TBX20"
FT /id="PRO_0000184452"
FT DNA_BIND 108..287
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 318..337
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 322..337
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 298..445
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10936053,
FT ECO:0000303|PubMed:10940636"
FT /id="VSP_021730"
FT CONFLICT 62
FT /note="D -> N (in Ref. 1; AAG15491)"
FT /evidence="ECO:0000305"
FT CONFLICT 117
FT /note="T -> P (in Ref. 1; AAG15491)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 445 AA; 49096 MW; 4EAEED0DF0329E57 CRC64;
MEFTASPKPQ LSSRANAFSI AALMSSGGPK EKEAAENTIK PLEQFVEKSS CAQPLGELTS
LDAHAEFGGG GGSPSSSSLC TEPLIPTTPI IPSEEMAKIA CSLETKELWD KFHELGTEMI
ITKSGRRMFP TIRVSFSGVD PESKYIVLMD IVPVDNKRYR YAYHRSSWLV AGKADPPLPA
RLYVHPDSPF TGEQLLKQMV SFEKVKLTNN ELDQHGHIIL NSMHKYQPRV HIIKKKDHTA
SLLNLKSEEF RTFIFPETVF TAVTAYQNQL ITKLKIDSNP FAKGFRDSSR LTDIERESVE
SLIQKHSYAR SPIRTYGEED VLGEESQTTQ SRGSAFTTSD NLSLSSWVSS SSSFPGFQHP
QPLTALGTST ASIATPIPHP IQGSLPPYSR LGMPLTPSAI ASSMQGSGPT FPSFHMPRYH
HYFQQGPYAA IQGLRHSSAV MTPFV
