TBX18

Chr 6

T-box transcription factor 18

Also known as: CAKUT2, PUJO

NCBI Gene: 9096 ENSG00000112837 UniProt: O95935

TBX18 encodes a transcription factor that acts as a transcriptional repressor essential for embryonic development of multiple organ systems, including the heart (particularly the sinoatrial node), coronary vessels, ureter, and vertebral column. Mutations cause autosomal dominant congenital anomalies of the kidney and urinary tract, and the gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.19), indicating that such mutations are likely to have severe developmental consequences.

ResearchSummary from RefSeq, UniProt

This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital anomalies of kidney and urinary tract 2

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429