TCF20

Chr 22

transcription factor 20

Also known as: AR1, DDVIBA, SPBP, TCF-20

NCBI Gene: 6942 ENSG00000100207 UniProt: Q9UGU0

TCF20 encodes a transcriptional coactivator that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter and enhances the activity of transcription factors including JUN and SP1. Loss-of-function mutations cause autosomal dominant developmental delay with variable intellectual impairment and behavioral abnormalities, including autism spectrum disorders. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the underlying disease mechanism.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental delay with variable intellectual impairment and behavioral abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

developmental delay with variable intellectual impairment and behavioral abnormalities · ADDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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