protein
Transcription factor 20
aka TCF-20
Gene
TCF20
Organism
Homo sapiens(9606)
Length
1960 aa
Mass
211,771 Da
Transcription factor 20 (TCF20) is a transcriptional activator that binds to regulatory regions controlling gene expression, notably regulating MMP3 (stromelysin) and functioning as a coactivator for various transcription factors including JUN, SP1, PAX6, and ETS1 (UniProt: Q9UGU0). The protein comprises 1,960 amino acids with a mass of approximately 211.8 kDa.
TCF20 mutations are associated with developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA), an autosomal dominant disorder characterized by impaired intellectual development, speech difficulties, and dysmorphic features. The condition presents with variable manifestations including hypotonia, macrocephaly, movement disorders, and gastrointestinal disturbances.
TCF20 is classified as a syndromic autism-risk gene (SFARI Cat 1), reflecting evidence that autism spectrum disorder occurs as a feature within the broader DDVIBA phenotype alongside attention deficit and hyperactivity disorder and other neurodevelopmental complications (SFARI Cat 1; SFARI syndromic).
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator
Disease associations
Developmental delay with variable intellectual impairment and behavioral abnormalitiesDDVIBA
An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation.
Sources
Last updated 5/6/2026, 5:25:12 AM