Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8927
MIM: 604020
HGNC: 1117
Ensembl: ENSG00000164061
Variants:
dbSNP: 8927
ClinVar: 8927
TCGA: ENSG00000164061
COSMIC: BSN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164061 | ENST00000296452 | Q9UPA5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38575728 | 2024 | Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. | 1 |
| 38575728 | 2024 | Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. | 1 |
| 36600631 | 2023 | Variants in BSN gene associated with epilepsy with favourable outcome. | 2 |
| 36600631 | 2023 | Variants in BSN gene associated with epilepsy with favourable outcome. | 2 |
| 32651614 | 2021 | Bassoon inhibits proteasome activity via interaction with PSMB4. | 14 |
| 32651614 | 2021 | Bassoon inhibits proteasome activity via interaction with PSMB4. | 14 |
| 32493491 | 2020 | No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease. | 4 |
| 32493491 | 2020 | No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease. | 4 |
| 29339765 | 2018 | Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome. | 16 |
| 29339765 | 2018 | Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome. | 16 |
| 21700703 | 2011 | D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone. | 11 |
| 21700703 | 2011 | D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone. | 11 |
| 19367581 | 2010 | Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. | 15 |
| 20024904 | 2010 | Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease. | 10 |
| 20307617 | 2010 | Association analysis of 3p21 with Crohn's disease in a New Zealand population. | 4 |
Citation
Dessen P
BSN (bassoon presynaptic cytomatrix protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60816/bsn-(bassoon-presynaptic-cytomatrix-protein)
