更新于：2024-05-01
SORCS2
sortilin related VPS10 domain containing receptor 2
更新于：2024-05-01
基本信息
别名 KIAA1329、SORCS2、SorCS2 104 kDa chain + [4] |
简介 The heterodimer formed by NGFR and SORCS2 functions as receptor for the precursor forms of NGF (proNGF) and BDNF (proBDNF) (PubMed:22155786, PubMed:24908487). ProNGF and proBDNF binding both promote axon growth cone collapse (in vitro) (PubMed:22155786, PubMed:24908487). Plays a role in the regulation of dendritic spine density in hippocampus neurons (By similarity). Required for normal neurite branching and extension in response to BDNF (PubMed:27457814). Plays a role in BDNF-dependent hippocampal synaptic plasticity. Together with NGFR and NTRK2, is required both for BDNF-mediated synaptic long-term depression and long-term potentiation (PubMed:27457814). ProNGF binding promotes dissociation of TRIO from the heterodimer, which leads to inactivation of RAC1 and/or RAC2 and subsequent reorganization of the actin cytoskeleton (PubMed:22155786). Together with the retromer complex subunit VPS35, required for normal expression of GRIN2A at synapses and dendritic cell membranes. Required for normal expression of the amino acid transporter SLC1A1 at the cell membrane, and thereby contributes to protect cells against oxidative stress (By similarity).
Does not promote Schwann cell apoptosis in response to proBDNF.
SorCS2 104 kDa chain and SorCS2 18 kDa chain together promote Schwann cell apoptosis in response to proBDNF. |
关联
100 项与 SORCS2 相关的临床结果
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100 项与 SORCS2 相关的转化医学
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2024-02-06Veterinary sciences
Identify Candidate Genes Associated with the Weight and Egg Quality Traits in Wenshui Green Shell-Laying Chickens by the Copy Number Variation-Based Genome-Wide Association Study.
Article
作者: Suozhou Yang ; Chao Ning ; Cheng Yang ; Wenqiang Li ; Qin Zhang ; Dan Wang ; Hui Tang
Copy number variation (CNV), as an essential source of genetic variation, can have an impact on gene expression, genetic diversity, disease susceptibility, and species evolution in animals. To better understand the weight and egg quality traits of chickens, this paper aimed to detect CNVs in Wenshui green shell-laying chickens and conduct a copy number variation regions (CNVRs)-based genome-wide association study (GWAS) to identify variants and candidate genes associated with their weight and egg quality traits to support related breeding efforts. In our paper, we identified 11,035 CNVRs in Wenshui green shell-laying chickens, which collectively spanned a length of 13.1 Mb, representing approximately 1.4% of its autosomal genome. Out of these CNVRs, there were 10,446 loss types, 491 gain types, and 98 mixed types. Notably, two CNVRs showed significant correlations with egg quality, while four CNVRs exhibited significant associations with body weight. These significant CNVRs are located on chromosome 4. Further analysis identified potential candidate genes that influence weight and egg quality traits, including FAM184B, MED28, LAP3, ATOH8, ST3GAL5, LDB2, and SORCS2. In this paper, the CNV map of the Wenshui green shell-laying chicken genome was constructed for the first time through population genotyping. Additionally, CNVRs can be employed as molecular markers to genetically improve chickens' weight and egg quality traits.
2024-01-19iScience
SORCS2 activity in pancreatic α-cells safeguards insulin granule formation and release from glucose-stressed β-cells
Article
作者: Kalnytska, Oleksandra ; Qvist, Per ; Kunz, Severine ; Conrad, Thomas ; Willnow, Thomas E. ; Schmidt, Vanessa
Sorting receptor SORCS2 is a stress-response factor protecting neurons from acute insults, such as during epilepsy. SORCS2 is also expressed in the pancreas, yet its action in this tissue remains unknown. Combining metabolic studies in SORCS2-deficient mice with ex vivo functional analyses and single-cell transcriptomics of pancreatic tissues, we identified a role for SORCS2 in protective stress response in pancreatic islets, essential to sustain insulin release. We show that SORCS2 is predominantly expressed in islet alpha cells. Loss of expression coincides with inability of these cells to produce osteopontin, a secreted factor that facilitates insulin release from stressed beta cells. In line with diminished osteopontin levels, beta cells in SORCS2-deficient islets show gene expression patterns indicative of aggravated cell stress, and exhibit defects in insulin granule maturation and a blunted glucose response. These findings corroborate a function for SORCS2 in protective stress response that extends to metabolism.
2023-12-21The Journal of nutrition
A Genome-Wide Interaction Study of Erythrocyte ω3 Polyunsaturated Fatty Acid Species and Memory in The Framingham Heart Study Offspring Cohort.
Article
作者: Carmen E Annevelink ; Jason Westra ; Aleix Sala-Vila ; William S Harris ; Nathan L Tintle ; Gregory C Shearer
BACKGROUND:
Cognitive decline, and more specifically Alzheimer's Disease, continues to increase in prevalence globally, with few, if any, adequate preventative approaches. Several tests of cognition are utilized in the diagnosis of cognitive decline which assess executive function, short- and long-term memory, cognitive flexibility, and speech and motor control. Recent studies have separately investigated the genetic component of both cognitive health, using these measures, and circulating fatty acids.
OBJECTIVE:
We will examine the potential moderating effect of main species of ω3 polyunsaturated fatty acids (PUFA) on an individual's genetically conferred risk of cognitive decline.
METHODS:
The Offspring cohort from the Framingham Heart Study was cross-sectionally analyzed in this genome wide interaction study (GWIS). Our sample included all individuals with red blood cell ω3-PUFA, genetic, cognitive testing (via Trail Making Tests), and covariate data (N = 1,620). We used linear mixed effects models to predict each of the three cognitive measures (TMT-A, TMT-B, TMT-D) by each ω3-PUFA, single nucleotide polymorphism (SNP) (0, 1 or 2 minor alleles), ω3-PUFA by SNP interaction term, and adjusting for sex, age, education, APOE-ε4 genotype status and kinship (relatedness).
RESULTS:
Our analysis identified 31 unique SNPs from 24 genes reaching an exploratory significance threshold of 1×10-5. Fourteen of the 24 genes have been previously associated with the brain/cognition and 5 genes have been previously associated with circulating lipids. Importantly, 8 of the genes we identified: DAB1, SORCS2, SERINC5, OSBPL3, CPA6, DLG2, MUC19, and RGMA have been associated with both cognition and circulating lipids. We identified 22 unique SNPs for which individuals with the minor alleles benefit substantially from increased ω3 fatty acid levels and 9 unique SNPs for which the common homozygote benefits.
CONCLUSIONS:
In this GWIS of ω3-PUFA species on cognitive outcomes, we identify 8 unique genes with plausible biology suggesting individuals with specific polymorphisms may have greater potential to benefit from increased ω3-PUFA intake. Additional replication in prospective settings with more diverse samples are needed.
分析
对领域进行一次全面的分析。
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