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Details on Person UniProt:O95947 TBX6
| Class:Id | ReferenceGeneProduct:65737 |
|---|---|
| _chainChangeLog | chain:1-436 added on Fri February 6 2015 |
| _displayName | UniProt:O95947 TBX6 |
| _timestamp | 2026-02-20 22:27:36 |
| chain | chain:1-436 |
| checksum | 649CDFB141B966F4 |
| comment | FUNCTION T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity).SUBUNIT Forms a dimeric complex with DNA (in vitro).INTERACTION Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.DEVELOPMENTAL STAGE Expressed during gastrulation and during a second phase in some adult tissues.DISEASE The disease is caused by variants affecting the gene represented in this entry. |
| description | recommendedName: T-box transcription factor TBX6 shortName: T-box protein 6 |
| geneName | TBX6 |
| identifier | O95947 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Developmental protein DNA-binding Dwarfism Nucleus Proteomics identification Reference proteome Transcription Transcription regulation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | TBX6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991600] ENSEMBL:ENSG00000149922 TBX6 [Homo sapiens] |
| secondaryIdentifier | TBX6_HUMAN Q8TAS4 Q9HA44 |
| sequenceLength | 436 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8965383] UniProt:O95947-1 TBX6 [Homo sapiens] [ReferenceIsoform:8965384] UniProt:O95947-2 TBX6 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:9793377] TBX6 [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:O95947 TBX6 (65737)
