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Gene : NBEA Homo sapiens

Name  ? neurobeachin Cytological Location  13q13.3
Brief Description  neurobeachin
Description  This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
  • synonyms:
  • BCL8B,
  • OTTHUMG00000016724,
  • LYST2,
  • NBEA,
  • BCL8B,
  • LYST2,
  • AF467288,
  • NM_015678,
  • KIAA1544,
  • FLJ10197,
  • uc058wka.1,
  • HGNC:7648
  • identifiers:
  • 26960,
  • ENSG00000172915,
  • NBEA

Genome feature

Region: gene ? Length: 730467  
Location: 13:34942270-35672736 Cyto location: 13q13.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

975 SN Ps

5 Cross References

16 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results