SYNE3 spectrin repeat containing nuclear envelope family member 3
Gene ID: 161176, updated on 17-Sep-2024Gene type: protein coding
Also known as: KASH3; NET53; Nesp3; C14orf49; C14orf139; LINC00341; NCRNA00341
- See all available tests in GTR for this gene
- Go to complete Gene record for SYNE3
- Go to Variation Viewer for SYNE3 variants
Summary
Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy. GeneReviews: Not available | |
| Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. GeneReviews: Not available |
Genomic context
- Location:
- 14q32.13
- Sequence:
- Chromosome: 14; NC_000014.9 (95407266..95516650, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SYNE3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.