BSN (bassoon presynaptic cytomatrix protein)

2014-11-01  

Identity

HGNC
BSN
LOCATION
3p21.31
LOCUSID
8927
ALIAS
ZNF231
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8927
MIM: 604020
HGNC: 1117
Ensembl: ENSG00000164061

Variants:

dbSNP: 8927
ClinVar: 8927
TCGA: ENSG00000164061
COSMIC: BSN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164061ENST00000296452Q9UPA5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385757282024Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.1
385757282024Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.1
366006312023Variants in BSN gene associated with epilepsy with favourable outcome.2
366006312023Variants in BSN gene associated with epilepsy with favourable outcome.2
326516142021Bassoon inhibits proteasome activity via interaction with PSMB4.14
326516142021Bassoon inhibits proteasome activity via interaction with PSMB4.14
324934912020No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.4
324934912020No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.4
293397652018Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.16
293397652018Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.16
217007032011D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone.11
217007032011D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone.11
193675812010Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.15
200249042010Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease.10
203076172010Association 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/css/lib/case-report-explorer/