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Bsn Gene Detail
Summary
  • Symbol
    Bsn
  • Name
    bassoon
  • Synonyms
    presynaptic cytomatrix protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277955
    NCBI Gene: 12217
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:107973221-108067583 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 59.07 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2420 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277955
 protein coding gene Chr9:107973221-108067618 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035287
 protein coding gene Chr9:110025088-110127452 (-)
A/J MGP_AJ_G0035266
 protein coding gene Chr9:106001502-106096816 (-)
AKR/J MGP_AKRJ_G0035198
 protein coding gene Chr9:108646322-108745502 (-)
BALB/cJ MGP_BALBcJ_G0035260
 protein coding gene Chr9:105698300-105793420 (-)
C3H/HeJ MGP_C3HHeJ_G0034970
 protein coding gene Chr9:109044794-109141939 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035780
 protein coding gene Chr9:113005027-113106988 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032678
 protein coding gene Chr9:103436231-103529145 (-)
CAST/EiJ MGP_CASTEiJ_G0034281
 protein coding gene Chr9:109001833-109105520 (-)
CBA/J MGP_CBAJ_G0034938
 protein coding gene Chr9:116998408-117106355 (-)
DBA/2J MGP_DBA2J_G0035099
 protein coding gene Chr9:105457021-105552778 (-)
FVB/NJ MGP_FVBNJ_G0035047
 protein coding gene Chr9:104226015-104321519 (-)
LP/J MGP_LPJ_G0035175
 protein coding gene Chr9:110213528-110323429 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035086
 protein coding gene Chr9:118589971-118693049 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035801
 protein coding gene Chr9:108928710-109035189 (-)
PWK/PhJ MGP_PWKPhJ_G0033988
 protein coding gene Chr9:105778328-105875195 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033823
 protein coding gene Chr9:108986135-109079495 (-)
WSB/EiJ MGP_WSBEiJ_G0034402
 protein coding gene Chr9:108804573-108912155 (-)



Homology
more
  • Human Ortholog
    BSN, bassoon presynaptic cytomatrix protein
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BSN, bassoon presynaptic cytomatrix protein
  • Synonyms
    ZNF231
  • Links
    NCBI Gene ID: 8927
    neXtProt AC: NX_Q9UPA5
    UniProt: Q9UPA5

  • Chr Location
    3p21.31; chr3:49554477-49673130 (+)  GRCh38
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
    38 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
    69
  • GO References
    27
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    783
  • Tissues
    41
  • cDNA Data
    8
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032589 Ensembl Gene Model | MGI Sequence Detail 94363 C57BL/6J ±  kb
    transcript ENSMUST00000035208 Ensembl | MGI Sequence Detail 15938 Not Applicable  
    polypeptide ENSMUSP00000035208 Ensembl | MGI Sequence Detail 3942 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      Genomic 2
      cDNA 9

      Microarray probesets 6
    References
    more
    • Summaries
      All 111
      Developmental Gene Expression 25
      Diseases 1
      Gene Ontology 27
      Phenotypes 38
    • 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:358027 Blondiaux A, et al., Linking epileptic phenotypes and neural extracellular matrix remodeling signatures in mouse models of epilepsy. Neurobiol Dis. 2023 Oct 12;188:106324
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory