NBEA
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| neurobeachin | MIM:604889 | Ensembl:ENSG00000172915 | HGNC:HGNC:7648 | PA31454 | 13q13.3 |
GO terms in NBEA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0019901 | protein kinase binding |
| BP | IEA | GO:0008104 | protein localization |
| CC | ISS | GO:0005802 | trans-Golgi network |
| CC | ISS | GO:0005829 | cytosol |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0012505 | endomembrane system |
Gene expression in normal tissue: NBEA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NBEA
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NBEA
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