Gene: ATP2A2

Alternate names for this Gene: ATP2B|DAR|DD|SERCA2

Gene Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Type of Gene: protein-coding

rs121912737 in ATP2A2 gene and Acrokeratosis Verruciformis of Hopf PMID 12542527 2003 In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2.

rs3026433 in ATP2A2 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs11065633 in ATP2A2 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4766428 in ATP2A2 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs121912732 in ATP2A2 gene and Keratosis Follicularis PMID 10441324 1999 ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

PMID 10080178 1999 Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

PMID 19995371 2010 Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.

PMID 10441323 1999 Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

PMID 28035777 2017 Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.

PMID 10441325 1999 ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

rs3026445 in ATP2A2 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

rs4766428 in ATP2A2 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

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

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

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

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

PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

rs11065633 in ATP2A2 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3026470 in ATP2A2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.