• Gene id: 6909

Gene Summary

• Gene Symbol: TBX2   Gene   UCSC   Ensembl
• Aliases: VETD
• Gene name: T-box transcription factor 2
• Alternate names: T-box transcription factor TBX2, T-box 2, T-box protein 2,
• Gene location: 17q23.2 (61399842: 61409465)     Exons: 7     NC_000017.11
• Gene summary(Entrez): 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. This gene product is the human homolog
• OMIM: 615563

Protein Summary

• Protein general information: Q13207  
  • Name: T box transcription factor TBX2 (T box protein 2)
  • Length: 712  
  • Mass: 75066
  • Tissue specificity: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary.
• Sequence:

  MREPALAASAMAYHPFHAPRPADFPMSAFLAAAQPSFFPALALPPGALAKPLPDPGLAGAAAAAAAAAAAAEAGL
  HVSALGPHPPAAHLRSLKSLEPEDEVEDDPKVTLEAKELWDQFHKLGTEMVITKSGRRMFPPFKVRVSGLDKKAK
  YILLMDIVAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMAKPVAFHKLKLTNNISDKHGFTILN
  SMHKYQPRFHIVRANDILKLPYSTFRTYVFPETDFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLT
  LPSLRLYEEHCKPERDGAESDASSCDPPPAREPPTSPGAAPSPLRLHRARAEEKSCAADSDPEPERLSEERAGAP
  LGRSPAPDSASPTRLTEPERARERRSPERGKEPAESGGDGPFGLRSLEKERAEARRKDEGRKEAAEGKEQGLAPL
  VVQTDSASPLGAGHLPGLAFSSHLHGQQFFGPLGAGQPLFLHPGQFTMGPGAFSAMGMGHLLASVAGGGNGGGGG
  PGTAAGLDAGGLGPAASAASTAAPFPFHLSQHMLASQGIPMPTFGGLFPYPYTYMAAAAAAASALPATSAAAAAA
  AAAGSLSRSPFLGSARPRLRFSPYQIPVTIPPSTSLLTTGLASEGSKAAGGNSREPSPLPELALRKVGAPSRGAL
  SPSGSAKEAANELQSIQRLVSGLESQRALSPGRESPK

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR022582  IPR002070  IPR001699   IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • STRING: ENSP00000240328
• Other Databases: GeneCards:  TBX2  Malacards:  TBX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0007417	central nervous system development	IBA	biological process
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0001947	heart looping	IBA	biological process
GO:0003205	cardiac chamber development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0001708	cell fate specification	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0090398	cellular senescence	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0035050	embryonic heart tube development	ISS	biological process
GO:0008016	regulation of heart contraction	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901211	negative regulation of cardiac chamber formation	IEA	biological process
GO:1901208	negative regulation of heart looping	IEA	biological process
GO:0060596	mammary placode formation	IEA	biological process
GO:0060560	developmental growth involved in morphogenesis	IEA	biological process
GO:0060465	pharynx development	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0036302	atrioventricular canal development	IEA	biological process
GO:0007569	cell aging	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0007521	muscle cell fate determination	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS	biological process
GO:0036302	atrioventricular canal development	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0060465	pharynx development	ISS	biological process
GO:1901208	negative regulation of heart looping	ISS	biological process
GO:1901211	negative regulation of cardiac chamber formation	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0007521	muscle cell fate determination	ISS	biological process
GO:0035909	aorta morphogenesis	ISS	biological process
GO:0042733	embryonic digit morphogenesis	ISS	biological process
GO:0048596	embryonic camera-type eye morphogenesis	ISS	biological process
GO:0048738	cardiac muscle tissue development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0007569	cell aging	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray