BSN Gene
protein-coding GIFtS: 49
GCID: GC03P049591
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bassoon presynaptic cytomatrix protein(Previous name: bassoon (presynaptic cytomatrix protein) )
(Previous symbol: ZNF231)
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Aliases
for BSN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Bassoon Presynaptic Cytomatrix Protein1 2 | | Neuronal Double Zinc Finger Protein2 | | ZNF2311 2 3 5 | | Protein Bassoon2 | | Bassoon (Presynaptic Cytomatrix Protein)1 2 | | KIAA04343 | | Zinc Finger Protein 2312 3 | | |
Export aliases for BSN gene to outside databasesPrevious GC identifers: GC03P046613 GC03M048695 GC03P049447 GC03P049550 GC03P049566 |
Summaries
for BSN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BSN:
Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed ofsynaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene isthought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressedprimarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axonterminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitterrelease from a subset of synapses. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BSN_HUMAN, Q9UPA5Function: Is thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ)which regulates neurotransmitter release. Seems to act through binding to ERC2/CAST1. Essential in regulatedneurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinalphotoreceptor ribbon synapses (By similarity)
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Genomic Views
for BSN gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BSN gene promoter:
NRSF form 1 Olf-1 NRSF form 2 CBF-C CBF-A CBF-B c-Myb CP1C CP1A CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for BSN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BSN |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.31 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21BSN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P049591: view genomic region
(about GC identifiers)
Start:
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49,591,922 bp from pter |
End:
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49,708,982 bp from pter |
Size:
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117,061 bases |
Orientation:
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plus strand |
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Proteins
for BSN gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BSN_HUMAN, Q9UPA5 (See
protein sequence)Recommended Name: Protein bassoon Size: 3926 amino acids; 416469 Da
Subunit: Interacts with ERC2/CAST1, RIMS1 and UNC13A. Part of a complex consisting of ERC2, RIMS1 and BSN (Bysimilarity)
Subcellular location: Cytoplasm (By similarity). Cell junction, synapse, synaptosome (By similarity). Cytoplasm,cytoskeleton. Note=Localized to the active zone of presynaptic density (By similarity)
Secondary accessions: O43161 Q7LGH3Explore the universe of human proteins at neXtProt for BSN: NX_Q9UPA5
Post-translational modifications:
Myristoylated. The N-terminal myristoylation is not sufficient for presynaptic localization (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UPA5
BSN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003449.2
ENSEMBL proteins: ENSP00000296452
Human Recombinant Protein Products:
Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table
BSN for ontologies About GeneDecksing
BSN Antibody Products:
Assay Products for BSN: |
Protein
Domains /
Families
for BSN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BSN for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UPA5ProtoNet protein and cluster: Q9UPA5 |
Function
for BSN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BSN_HUMAN, Q9UPA5Function: Is thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ)which regulates neurotransmitter release. Seems to act through binding to ERC2/CAST1. Essential in regulatedneurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinalphotoreceptor ribbon synapses (By similarity) Genatlas biochemistry entry for BSN:Bassoon,presynaptic cytomatrix protein,overexpressed in cerebella of patients with multiple system atrophy (MSA)potential transcriptional regulator
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BSN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for BSN | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BSN |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSN |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- | | GO:0046872 | metal ion binding |
IEA | -- |
BSN for ontologies About GeneDecksing
Animal Models:
6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Bsn):
BSN for phenotypes About GeneDecksing
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Pathways & Interactions
for BSN gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Neuroscience | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for BSN
BSN for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BSN
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
5/18 Interacting proteins for BSN (Q9UPA53 ENSP000002964524) via UniProtKB, MINT, STRING, and/or I2D (see all 18)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
BSN for ontologies About GeneDecksing
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Drugs & Compounds
for BSN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BSN
Search CenterWatch for drugs/clinical trials and news about BSN
|
Transcripts
for BSN gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BSN gene: NM_003458.3 Unigene Cluster for BSN: Bassoon presynaptic cytomatrix protein Hs.194684 [show with all ESTs]Unigene Representative Sequence: AF0522242 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000296452(uc003cxe.4) ENST00000467456
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BSN (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BSN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BSN (NM_057176) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BSN | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BSN |
Additional cDNA sequence: AB007894.1 AF052224.1 5 DOTS entries: DT.411943 DT.206144 DT.100037396 DT.91743461 DT.91947864 24/99 AceView cDNA sequences (see all 99): AF052224 BM914944 AL045982 F03960 BM713772 Z45025 BM564812 AA349294 BF513520 NM_003458 AB007894 AA349490 BE700145 AA442888 BI488852 AA350968 BE221358 AA722271 BF960611 BM676923 T08001 BQ478142 AW152535 BM720829
GeneLoc Exon Structure
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Expression
for BSN gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BSN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCTTGTGAA
About this image
See BSN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BSN
SOURCE GeneReport for Unigene cluster: Hs.194684
UniProtKB/Swiss-Prot: BSN_HUMAN, Q9UPA5Tissue specificity: Exclusively expressed in brain
SABiosciences Expression via Pathway-Focused PCR Array including BSN:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BSN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BSN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BSN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BSN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSN |
Orthologs
for BSN gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for BSN gene from 5/13 species (see all 13) About this table
ENSEMBL Gene Tree for BSN (if available)
TreeFam Gene Tree for BSN (if available) |
Paralogs
for BSN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BSN gene
- PCLO2
BSN for paralogs About GeneDecksing
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Genomic Variants
for BSN gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BSN (49591922 - 49708982 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BSN: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BSN |
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Disorders
/ Diseases
for BSN gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BSN for disorders About GeneDecksing
OMIM gene information: 604020
OMIM disorders: --
9  diseases for BSN: About MalaCardsneuronitis decubitus ulcer pediatric crohns disease multiple system atrophy
multiple sclerosis crohn's disease ulcerative colitis retinitis
schizophrenia
1 disease from the University of Copenhagen DISEASES database for BSN:Lambert-Eaton myasthenic syndrome Human Genome Epidemiology (HuGE) Navigator: BSN (9 documents)
Export disorders for BSN gene to outside databases
|
Publications
for BSN gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BSN gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with BSN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and mapping of ZNF231, a novel brain-specific gene encoding neuronal double zinc finger protein whose expression is enhanced in a neurodegenerative disorder, multiple system atrophy. (PubMed id 9806829)1, 2, 3, 9 Hashida H....Sakaki Y. (1998)
- The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene. (PubMed id 10329005)1, 2, 3, 9 Winter C....Gundelfinger E.D. (1999)
- Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K....Ohara O. (1997)
- D-amino acid oxidase activity is inhibited by an inte raction with bassoon protein at the presynaptic active zone. (PubMed id 21700703)1 Popiolek M....Pausch M.H. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
- Bassoon speeds vesicle reloading at a central excitat ory synapse. (PubMed id 21092860)1 Hallermann S....Eilers J. (2010)
- Bassoon and the synaptic ribbon organize CaA^+ channel s and vesicles to add release sites and promote refilling. (PubMed id 21092861)1 Frank T....Moser T. (2010)
- Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1 Franke A....Parkes M. (2010)
- Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1 Morgan A.R....Ferguson L.R. (2010)
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External Searches for BSN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing BSN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing BSN gene
(According to HUGE)
About This Section
| |
Specialized Databases showing BSN gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BSN | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BSN gene:
Search GeneIP for patents involving BSN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BSN gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for BSN | | OriGene shRNA RFP for BSN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BSN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BSN | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BSN | | OriGene 3'-UTR Clone for BSN | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BSN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BSN | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for BSN | | OriGene Custom Protein Services for BSN | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BSN | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BSN | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BSN | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BSN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BSN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BSN |
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| | Antibodies & Assays for BSN |
| | | | Search Tocris compounds for BSN |
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 | | | BSN Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSN |
|  |  |  | | | | Search ThermoFisher Antibodies for BSN |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BSN |
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