NBEAL2 neurobeachin like 2
Gene ID: 23218, updated on 27-Nov-2024Gene type: protein coding
Also known as: GPS; BDPLT4
- See all available tests in GTR for this gene
- Go to complete Gene record for NBEAL2
- Go to Variation Viewer for NBEAL2 variants
Summary
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gray platelet syndrome | See labs |
Genomic context
- Location:
- 3p21.31
- Sequence:
- Chromosome: 3; NC_000003.12 (46979666..47009701)
- Total number of exons:
- 57
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NBEAL2 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
- Variation ViewerRelated Variants
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