Gene: SORCS3

Alternate names for this Gene: SORCS

Gene Summary: This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing.

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.1

Description of this Gene: sortilin related VPS10 domain containing receptor 3

Type of Gene: protein-coding

rs10884064 in SORCS3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs117792039 in SORCS3 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs11591402 in SORCS3 gene and Attention deficit hyperactivity disorder PMID 30478444 2019 Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

rs145158522 in SORCS3 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs61867293 in SORCS3 gene and Child Development Disorders, Pervasive PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.

rs191784289 in SORCS3 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs11192193 in SORCS3 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1021363 in SORCS3 gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

PMID 27479909 2016 Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.

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

PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.

PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

rs11599236 in SORCS3 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.

rs10884064 in SORCS3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11192193 in SORCS3 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs111790405 in SORCS3 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

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

rs10400054 in SORCS3 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.