• Gene id: 6926

Gene Summary

• Gene Symbol: TBX3   Gene   UCSC   Ensembl
• Aliases: TBX3-ISO, UMS, XHL
• Gene name: T-box transcription factor 3
• Alternate names: T-box transcription factor TBX3, T-box 3, T-box protein 3, bladder cancer related protein XHL,
• Gene location: 12q24.21 (114684174: 114670254)     Exons: 8     NC_000012.12
• 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 protein is a transcriptional repr
• OMIM: 600087

Protein Summary

• Protein general information: O15119  
  • Name: T box transcription factor TBX3 (T box protein 3)
  • Length: 743  
  • Mass: 79389
  • Tissue specificity: Widely expressed.
• Sequence:

  MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETG
  IPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYI
  LLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTLAFPS
  DHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFA
  KGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGES
  DAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPATISSSTRGLG
  AEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQF
  AMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSL
  FPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVA
  ALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR022582  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • PDB: 1H6F
  • PDBsum: 1H6F
  • STRING: ENSP00000257566
• Other Databases: GeneCards:  TBX3  Malacards:  TBX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
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	ISA	molecular function
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0007417	central nervous system development	IBA	biological process
GO:0001947	heart looping	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003205	cardiac chamber development	IBA	biological process
GO:0001708	cell fate specification	IBA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0090398	cellular senescence	IDA	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:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035136	forelimb morphogenesis	IDA	biological process
GO:0009887	animal organ morphogenesis	IDA	biological process
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:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007569	cell aging	IEA	biological process
GO:0021761	limbic system development	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0060596	mammary placode formation	IEA	biological process
GO:0060923	cardiac muscle cell fate commitment	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003167	atrioventricular bundle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010159	specification of animal organ position	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0030857	negative regulation of epithelial cell differentiation	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060931	sinoatrial node cell development	IEA	biological process
GO:2000648	positive regulation of stem cell proliferation	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045787	positive regulation of cell cycle	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0007569	cell aging	IDA	biological process
GO:0007569	cell aging	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045662	negative regulation of myoblast differentiation	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0035115	embryonic forelimb morphogenesis	IMP	biological process
GO:0032275	luteinizing hormone secretion	IMP	biological process
GO:0030879	mammary gland development	IMP	biological process
GO:0030540	female genitalia development	IMP	biological process
GO:0008595	anterior/posterior axis specification, embryo	IMP	biological process
GO:0048332	mesoderm morphogenesis	IMP	biological process
GO:0046884	follicle-stimulating hormone secretion	IMP	biological process
GO:0030539	male genitalia development	IMP	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0001501	skeletal system development	IMP	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
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	ISA	molecular function
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0007417	central nervous system development	IBA	biological process
GO:0001947	heart looping	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003205	cardiac chamber development	IBA	biological process
GO:0001708	cell fate specification	IBA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0090398	cellular senescence	IDA	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:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035136	forelimb morphogenesis	IDA	biological process
GO:0009887	animal organ morphogenesis	IDA	biological process
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:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007569	cell aging	IEA	biological process
GO:0021761	limbic system development	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0060596	mammary placode formation	IEA	biological process
GO:0060923	cardiac muscle cell fate commitment	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003167	atrioventricular bundle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010159	specification of animal organ position	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0030857	negative regulation of epithelial cell differentiation	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060931	sinoatrial node cell development	IEA	biological process
GO:2000648	positive regulation of stem cell proliferation	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045787	positive regulation of cell cycle	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0007569	cell aging	IDA	biological process
GO:0007569	cell aging	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045662	negative regulation of myoblast differentiation	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0035115	embryonic forelimb morphogenesis	IMP	biological process
GO:0032275	luteinizing hormone secretion	IMP	biological process
GO:0030879	mammary gland development	IMP	biological process
GO:0030540	female genitalia development	IMP	biological process
GO:0008595	anterior/posterior axis specification, embryo	IMP	biological process
GO:0048332	mesoderm morphogenesis	IMP	biological process
GO:0046884	follicle-stimulating hormone secretion	IMP	biological process
GO:0030539	male genitalia development	IMP	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0001501	skeletal system development	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Ulnar-mammary syndrome	KEGG:H00637
Ulnar-mammary syndrome	KEGG:H00637
Ovarian cancer	PMID:17031801
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray