BEAN1 brain expressed associated with NEDD4 1
Gene ID: 146227, updated on 5-Mar-2024Gene type: protein coding
Also known as: BEAN; SCA31
- See all available tests in GTR for this gene
- Go to complete Gene record for BEAN1
- Go to Variation Viewer for BEAN1 variants
Summary
The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Spinocerebellar ataxia type 31 | See labs |
Genomic context
- Location:
- 16q21
- Sequence:
- Chromosome: 16; NC_000016.10 (66427295..66495288)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for BEAN1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- 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
- SNP: GeneViewSNPs linked from GeneView
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