TBX1
TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.
Overview
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2.
Open Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.97, animal model 0.52, genetic association 0.64).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.
- 1 · What it is
TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.
- 2 · What goes wrong in cancer
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development.
- 3 · How drugs use it
No product in this corpus aims at TBX1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:11592 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O43435 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000184058 (association with cancer (MONDO_0004992) 0.52; (GraphQL API, CC0))
Biology
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2. Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch. Required for hair follicle stem cell self-renewal. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence. Location: Nucleus (UniProt). Locus 22q11.21 (HGNC).
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier "association-only" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"TBX1" OR ABSTRACT:"TBX1" OR TITLE:"T-box transcription factor 1" OR ABSTRACT:"T-box transcription factor 1" OR TITLE:"T-box transcription factor TBX1" OR ABSTRACT:"T-box transcription factor TBX1" OR TITLE:"CATCH22" OR ABSTRACT:"CATCH22") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about TBX1, not a curated reading list.