Gene: ADCY5

Alternate names for this Gene: AC5|FDFM

Gene Summary: This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.1

Description of this Gene: adenylate cyclase 5

Type of Gene: protein-coding

rs11708067 in ADCY5 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

PMID 20372150 2010 To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight.

PMID 23202124 2013 New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

rs72964564 in ADCY5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11708067 in ADCY5 gene and Body mass index PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4093840 in ADCY5 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs11708067 in ADCY5 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 22693455 2012 Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs796065306 in ADCY5 gene and Dyskinesia, Familial, with Facial Myokymia PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 11310626 2001 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 25545163 2015 A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

rs864309483 in ADCY5 gene and Dysmorphic features PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

rs11708067 in ADCY5 gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

PMID 25631608 2015 Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

PMID 31021400 2019 Pleiotropy informed adaptive association test of multiple traits using genome-wide association study summary data.

PMID 20081858 2010 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

rs11708067 in ADCY5 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

rs2877716 in ADCY5 gene and Glucose tolerance test PMID 20081857 2010 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.

rs2062432 in ADCY5 gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2062432 in ADCY5 gene and Low density lipoprotein cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs59107033 in ADCY5 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1553732126 in ADCY5 gene and Movement Disorders PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

rs1553732126 in ADCY5 gene and Muscle hypotonia PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

rs10934646 in ADCY5 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11708067 in ADCY5 gene and Serum total cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2062432 in ADCY5 gene and Triglycerides measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs11714441 in ADCY5 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs17295246 in ADCY5 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11714441 in ADCY5 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.