NEBL nebulette
Gene ID: 10529, updated on 10-Oct-2024Gene type: protein coding
Also known as: LASP2; LNEBL; C10orf113; bA165O3.1
- See all available tests in GTR for this gene
- Go to complete Gene record for NEBL
- Go to Variation Viewer for NEBL variants
Summary
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity. GeneReviews: Not available | |
| A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. GeneReviews: Not available | |
| GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page |
Genomic context
- Location:
- 10p12.31
- Sequence:
- Chromosome: 10; NC_000010.11 (20779973..21293050, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NEBL 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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