Gene: TRIO
Alternate names for this Gene: ARHGEF23|MEBAS|MRD44|MRD63|tgat
Gene Summary: This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 5
Location in Chromosome : 5p15.2
Description of this Gene: trio Rho guanine nucleotide exchange factor
Type of Gene: protein-coding
rs117297784 in
TRIO gene and
Coronary heart disease
PMID 22751097 2012 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
rs1554062562 in
TRIO gene and
Dysmorphic features
PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.
PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
rs79775842 in
TRIO gene and
High density lipoprotein measurement
PMID 30498476 2018 Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins.
rs768858988 in
TRIO gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
rs115054458 in
TRIO gene and
Major Depressive Disorder
PMID 27777418 2017 The PHF21B gene is associated with major depression and modulates the stress response.
rs1554062562 in
TRIO gene and
Multiple congenital anomalies
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.
PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.
PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
rs1554062562 in
TRIO gene and
Overgrowth
PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.
PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.