Gene: SYNE1

Alternate names for this Gene: 8B|AMC3|AMCM|ARCA1|C6orf98|CPG2|EDMD4|KASH1|MYNE1|Nesp1|SCAR8|dJ45H2.2

Gene Summary: This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.2

Description of this Gene: spectrin repeat containing nuclear envelope protein 1

Type of Gene: protein-coding

rs9371601 in SYNE1 gene and Attention deficit hyperactivity disorder PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs1203233 in SYNE1 gene and Bipolar Disorder PMID 28072414 2017 Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder.

PMID 20351715 2011 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

PMID 28115744 2018 A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder.

PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

PMID 21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.

PMID 23070075 2013 Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.

PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs111550108 in SYNE1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9371601 in SYNE1 gene and Child Development Disorders, Pervasive PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs9371601 in SYNE1 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs1564367104 in SYNE1 gene and Emery-Dreifuss Muscular Dystrophy 4 PMID 23959263 2013 SYNE1 mutations in autosomal recessive cerebellar ataxia.

PMID 17159980 2007 Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

rs17803970 in SYNE1 gene and Endometriosis PMID 28537267 2017 Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

rs17082463 in SYNE1 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs169974 in SYNE1 gene and Major Depressive Disorder PMID 22472876 2013 A mega-analysis of genome-wide association studies for major depressive disorder.

PMID 20351715 2011 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs35569312 in SYNE1 gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31249589 2019 A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs1563130387 in SYNE1 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) PMID 28687974 2017 SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.

PMID 23959263 2013 SYNE1 mutations in autosomal recessive cerebellar ataxia.

PMID 17159980 2007 Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

PMID 23325900 2013 Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

rs9371601 in SYNE1 gene and Schizophrenia PMID 23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.

rs6901631 in SYNE1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs35569312 in SYNE1 gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

PMID 31249589 2019 A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

rs6904757 in SYNE1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.