Gene: SYNE2

Alternate names for this Gene: EDMD5|KASH2|NUA|NUANCE|Nesp2|Nesprin-2|SYNE-2|TROPH

Gene Summary: The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.2

Description of this Gene: spectrin repeat containing nuclear envelope protein 2

Type of Gene: protein-coding

Gene: ESR2

Alternate names for this Gene: ER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2|ODG8

Gene Summary: This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.2-q23.3

Description of this Gene: estrogen receptor 2

Type of Gene: protein-coding

rs2738413 in SYNE2;ESR2 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs2772163 in SYNE2;ESR2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs36215895 in SYNE2;ESR2 gene and EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT PMID 17761684 2007 Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

rs148114281 in SYNE2;ESR2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs915057 in SYNE2;ESR2 gene and Major Depressive Disorder PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

rs2781377 in SYNE2;ESR2 gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.