| Entrez Gene ID | 26960 |
|---|---|
| Official Gene Symbol | NBEA (GeneCards) |
| Full name | neurobeachin |
| Location | 13q13.3 |
| Other ids | Vega : OTTHUMG00000016724 MIM : 604889 HGNC : HGNC:7648 Ensembl : ENSG00000172915 |
| Other names | BCL8B, LYST2 |
| 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] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 17136 | 26960 | NBEA | 13 | 35645485 | 35645485 | Asymptomatic | HiSeq X Ten |
| 17561 | 26960 | NBEA | 13 | 35852243 | 35852243 | Asymptomatic | HiSeq X Ten |
| 17694 | 26960 | NBEA | 13 | 35680544 | 35680544 | Asymptomatic | HiSeq X Ten |
| 17711 | 26960 | NBEA | 13 | 35773407 | 35773407 | Asymptomatic | HiSeq X Ten |
| 23749 | 26960 | NBEA | 13 | 36006830 | 36006830 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27707 | 26960 | NBEA | 13 | 35625797 | 35625797 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |