Gene: FOXP2

Alternate names for this Gene: CAGH44|SPCH1|TNRC10

Gene Summary: This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.1

Description of this Gene: forkhead box P2

Type of Gene: protein-coding

rs121908377 in FOXP2 gene and Apraxia, Developmental Verbal PMID 11586359 2001 A forkhead-domain gene is mutated in a severe speech and language disorder.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 15877281 2005 Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

PMID 20858596 2010 Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.

rs1476535 in FOXP2 gene and Attention deficit hyperactivity disorder PMID 30610198 2019 Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

PMID 30478444 2019 Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

rs10228350 in FOXP2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1476535 in FOXP2 gene and Cannabis use PMID 30610198 2019 Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

rs17137004 in FOXP2 gene and Diabetes PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs17137004 in FOXP2 gene and Diabetes Mellitus PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs1229762 in FOXP2 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs62469231 in FOXP2 gene and Endometriosis PMID 28333195 2017 Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.

rs10228350 in FOXP2 gene and Gastroesophageal reflux disease PMID 31527586 2019 Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

rs7783012 in FOXP2 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs1554412300 in FOXP2 gene and Muscle hypotonia PMID 17033973 2006 Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

PMID 22105961 2012 Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families.

PMID 27572252 2017 FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

PMID 28741757 2017 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

PMID 15877281 2005 Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

PMID 11894222 2002 FOXP2 is not a major susceptibility gene for autism or specific language impairment.

PMID 28190287 2017 A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

PMID 2332125 1990 An extended family with a dominantly inherited speech disorder.

PMID 27933109 2016 Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

rs17374201 in FOXP2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs7783012 in FOXP2 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs12705959 in FOXP2 gene and Systolic Pressure PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.

rs12705959 in FOXP2 gene and Systolic blood pressure measurement PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.

rs2100249 in FOXP2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.