Entity Details

Primary name TBX4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP57082
EntryNameTBX4_HUMAN
FullNameT-box transcription factor TBX4
TaxID9606
Evidenceevidence at protein level
Length545
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesTBX4

GO terms

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GOName
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:0001525 angiogenesis
GO:0001708 cell fate specification
GO:0002009 morphogenesis of an epithelium
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0035108 limb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0048705 skeletal system morphogenesis
GO:1990401 embryonic lung development

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
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
147891 OMIMIschiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS)An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. The disease is caused by variants affecting the gene represented in this entry.
601360 OMIMAmelia, posterior, with pelvic and pulmonary hypoplasia syndrome (PAPPAS)An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TBX4_HUMANTET5A_HUMANBioGRID, HPRD15231748 details