About   Help   FAQ
Bsn Gene Detail
Summary
  • Symbol
    Bsn
  • Name
    bassoon
  • Synonyms
    presynaptic cytomatrix protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277955
    NCBI Gene: 12217
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:108096022-108190384 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      94363 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 59.07 cM, cytoband F
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    BSN, bassoon presynaptic cytomatrix protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BSN, bassoon presynaptic cytomatrix protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ZNF231
  • Links
    NCBI Gene ID: 8927
    neXtProt AC: NX_Q9UPA5
    UniProt: Q9UPA5

  • Chr Location
    3p21.31; chr3:49554489-49671549 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 31161
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: BSN
  • Gene Tree
    Bsn
Human Diseases
more
  • Diseases
    1 with Bsn mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 2 alleles in 1 genetic background
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000016899 VEGA Gene Model | MGI Sequence Detail 94363 C57BL/6J ±  kb
    transcript OTTMUST00000041006 VEGA | MGI Sequence Detail 15938 Not Applicable  
    polypeptide OTTMUSP00000018359 VEGA | MGI Sequence Detail 3942 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      413 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      Genomic 2
      cDNA 8

      Microarray probesets 6
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 19
      Diseases 1
      Gene Ontology 18
      Phenotypes 28
    • Earliest
      J:48938 Dieck S, et al., Bassoon, a novel zinc-finger CAG/glutamine-repeat protein selectively localized at the active zone of presynaptic nerve terminals. J Cell Biol. 1998 Jul 27;142(2):499-509
    • Latest
      J:256127 Okerlund ND, et al., Bassoon Controls Presynaptic Autophagy through Atg5. Neuron. 2017 Feb 22;93(4):897-913.e7

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/19/2018
    MGI 6.12
    The Jackson Laboratory