Entity Details

Primary name TBX6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95947
EntryNameTBX6_HUMAN
FullNameT-box transcription factor TBX6
TaxID9606
Evidenceevidence at protein level
Length436
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesTBX6

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001707 mesoderm formation
GO:0001708 cell fate specification
GO:0001947 heart looping
GO:0003205 cardiac chamber development
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007417 central nervous system development
GO:0007498 mesoderm development
GO:0008284 positive regulation of cell population proliferation
GO:0009653 anatomical structure morphogenesis
GO:0010977 negative regulation of neuron projection development
GO:0014043 negative regulation of neuron maturation
GO:0023019 signal transduction involved in regulation of gene expression
GO:0032525 somite rostral/caudal axis specification
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR002070 Transcription factor, BrachyuryFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
122600 OMIMSpondylocostal dysostosis 5 (SCDO5)A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

40 interactions

InteractorPartnerSourcesPublicationsLink
TBX6_HUMANANM1_HUMANBioGRID, MINT23455924 details
TBX6_HUMANTOX4_HUMANBioGRID, IntAct24722188 25416956 32296183 details
TBX6_HUMANCA094_HUMANBioGRID, IntAct24722188 25416956 details
TBX6_HUMANRBPMS_HUMANBioGRID, IntAct24722188 25416956 32296183 details
TBX6_HUMANHSFY1_HUMANBioGRID, IntAct24722188 25416956 32296183 details
TBX6_HUMANTBX19_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANPO6F2_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANCRX_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANCRTP1_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANMAGD1_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANKLD7B_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANTBX15_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANINT11_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANTET5B_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANCJ055_HUMANIntAct32296183 details
TBX6_HUMANKRA62_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANUBP54_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANPR20D_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANTLE5_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANT11L1_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANKR111_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANPA2GX_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANDAZP2_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANCS054_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANMET27_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANOBF1_HUMANBioGRID, IntAct32296183 details
TBX6_HUMANLAMP2_HUMANIntAct32814053 details
TBX6_HUMANQCR1_HUMANIntAct32814053 details
TBX6_HUMANUBQL1_HUMANIntAct32814053 details
TBX6_HUMANMEOX2_HUMANBioGRID24722188 details
TBX6_HUMANPSA3_HUMANBioGRID24722188 details
TBX6_HUMANYPEL3_HUMANBioGRID32296183 details
TBX6_HUMANTSC1_HUMANBioGRID32296183 details
TBX6_HUMANMGT5B_HUMANBioGRID32296183 details
TBX6_HUMANZNF34_HUMANBioGRID32296183 details
TBX6_HUMANKR131_HUMANBioGRID32296183 details
TBX6_HUMANPR20E_HUMANBioGRID32296183 details
TBX6_HUMANPR20C_HUMANBioGRID32296183 details
TBX6_HUMANPR20B_HUMANBioGRID32296183 details
TBX6_HUMANPR20A_HUMANBioGRID32296183 details