Gene: CAMTA1

Alternate names for this Gene: CANPMR

Gene Summary: The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.31-p36.23

Description of this Gene: calmodulin binding transcription activator 1

Type of Gene: protein-coding

rs2412208 in CAMTA1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

rs2412208 in CAMTA1 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

rs2412208 in CAMTA1 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

rs2412208 in CAMTA1 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

rs10864302 in CAMTA1 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12128526 in CAMTA1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1135401818 in CAMTA1 gene and CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

rs185305928 in CAMTA1 gene and Chemical and Drug Induced Liver Injury PMID 28043905 2017 Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.

rs1193179 in CAMTA1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 17293876 2007 A genome-wide association study identifies novel risk loci for type 2 diabetes.

PMID 19184112 2009 Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans.

rs4908678 in CAMTA1 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs7534398 in CAMTA1 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.

rs1553238271 in CAMTA1 gene and Dysmorphic features PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

PMID 24145135 2014 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

PMID 25049392 2014 Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

PMID 16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.

PMID 17537720 2007 A potential dimerization region of dCAMTA is critical for termination of fly visual response.

PMID 22031302 2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

PMID 22693284 2012 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

rs11120822 in CAMTA1 gene and Fatty acid measurement PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

rs12137398 in CAMTA1 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs7547519 in CAMTA1 gene and Memory, Episodic PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

rs12137398 in CAMTA1 gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs1553238271 in CAMTA1 gene and Muscle hypotonia PMID 17537720 2007 A potential dimerization region of dCAMTA is critical for termination of fly visual response.

PMID 24145135 2014 Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

PMID 22031302 2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

PMID 17470457 2007 Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance.

PMID 16678093 2006 The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases.

PMID 24738973 2015 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

PMID 25049392 2014 Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor.

PMID 22693284 2012 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

rs11120822 in CAMTA1 gene and Phospholipid measurement PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

rs11121012 in CAMTA1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11121012 in CAMTA1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs112193369 in CAMTA1 gene and Prostate carcinoma PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs12563101 in CAMTA1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs6691442 in CAMTA1 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.