SYNE1 spectrin repeat containing nuclear envelope protein 1
Gene ID: 23345, updated on 3-Nov-2024Gene type: protein coding
Also known as: 8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
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- Go to complete Gene record for SYNE1
- Go to Variation Viewer for SYNE1 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arthrogryposis multiplex congenita 3, myogenic type | not available |
| Autosomal recessive ataxia, Beauce type | not available |
| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. GeneReviews: Not available | |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | not available |
| Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. GeneReviews: Not available | |
| Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. GeneReviews: Not available | |
| Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. GeneReviews: Not available |
Genomic context
- Location:
- 6q25.2
- Sequence:
- Chromosome: 6; NC_000006.12 (152121687..152637362, complement)
- Total number of exons:
- 153
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SYNE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SYNE1 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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