Gene: TCF20

Alternate names for this Gene: AR1|DDVIBA|SPBP|TCF-20

Gene Summary: 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.2|22q13.3

Description of this Gene: transcription factor 20

Type of Gene: protein-coding

rs5758651 in TCF20 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

rs760648 in TCF20 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs1555923822 in TCF20 gene and Dysmorphic features PMID 25228304 2014 De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27436265 2016 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PMID 18351660 2008 Discovery of transcription factors and other candidate regulators of neural crest development.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs5758667 in TCF20 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs134871 in TCF20 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 25644384 2015 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

rs1555923822 in TCF20 gene and Movement Disorders PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 18351660 2008 Discovery of transcription factors and other candidate regulators of neural crest development.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27436265 2016 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 25228304 2014 De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

rs1555923822 in TCF20 gene and Muscle hypotonia PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 18351660 2008 Discovery of transcription factors and other candidate regulators of neural crest development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27436265 2016 De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

PMID 25228304 2014 De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

rs6002655 in TCF20 gene and Schizophrenia PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs73169175 in TCF20 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4822108 in TCF20 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.