• Gene id: 6911

Gene Summary

• Gene Symbol: TBX6   Gene   UCSC   Ensembl
• Aliases: SCDO5
• Gene name: T-box transcription factor 6
• Alternate names: T-box transcription factor TBX6, T-box 6, T-box protein 6,
• Gene location: 16p11.2 (30091926: 30085792)     Exons: 8     NC_000016.10
• 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. Knockout studies in mice indicate that
• OMIM: 142956

Protein Summary

• Protein general information: O95947  
  • Name: T box transcription factor TBX6 (T box protein 6)
  • Length: 436  
  • Mass: 47045
  • Tissue specificity: Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.
• Sequence:

  MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGT
  EPAPSAPEALHSLPGVSLSLENRELWKEFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGAR
  YRWQGRRWEPSGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLTNSTLDPHGHLILHSMHKYQPRIHLVRA
  AQLCSQHWGGMASFRFPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEA
  YGSGDTPGGPCDSTLGGDIRESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPD
  SGRSAPYSAAFLELPHGSGGSGYPAAPPAVPFAPHFLQGGPFPLPYTAPGGYLDVGSKPMY

• Structural information:
  • Interpro: IPR008967  IPR036960  IPR002070  IPR001699  IPR018186  
  • Prosite: PS01283 PS01264 PS50252
  • CDD: cd00182
  • STRING: ENSP00000378650
• Other Databases: GeneCards:  TBX6  Malacards:  TBX6

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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001947	heart looping	IBA	biological process
GO:0001570	vasculogenesis	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: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: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:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0007498	mesoderm development	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	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: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: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: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:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0032525	somite rostral/caudal axis specification	IEA	biological process
GO:0014043	negative regulation of neuron maturation	IEA	biological process
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001708	cell fate specification	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Spondylocostal dysostosis	KEGG:H00517
Spondylocostal dysostosis	KEGG:H00517
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881