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Gene : BEAN1 Homo sapiens

Name  ? brain expressed associated with NEDD4 1 Cytological Location  16q21
Brief Description  brain expressed associated with NEDD4 1
Description  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]
  • synonyms:
  • SCA31,
  • BEAN,
  • BC000818,
  • uc021tjl.2,
  • HGNC:24160,
  • OTTHUMG00000173370,
  • SCA31,
  • BEAN1,
  • NM_001136106,
  • spinocerebellar ataxia 31
  • identifiers:
  • 146227,
  • ENSG00000166546,
  • BEAN1

Genome feature

Region: gene ? Length: 67994  
Location: 16:66427295-66495288 Cyto location: 16q21


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results