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Aliases for BSN Gene

Aliases for BSN Gene

  • Bassoon Presynaptic Cytomatrix Protein 2 3
  • Zinc Finger Protein 231 2 3 4
  • ZNF231 3 4 6
  • Bassoon (Presynaptic Cytomatrix Protein) 2 3
  • Neuronal Double Zinc Finger Protein 2 3
  • Protein Bassoon 3
  • KIAA0434 4

External Ids for BSN Gene

Previous HGNC Symbols for BSN Gene

  • ZNF231

Previous GeneCards Identifiers for BSN Gene

  • GC03P046613
  • GC03M048695
  • GC03P049447
  • GC03P049550
  • GC03P049566

Summaries for BSN Gene

Entrez Gene Summary for BSN Gene

  • Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]

GeneCards Summary for BSN Gene

BSN (Bassoon Presynaptic Cytomatrix Protein) is a Protein Coding gene. Among its related pathways are Neuroscience. An important paralog of this gene is PCLO.

UniProtKB/Swiss-Prot for BSN Gene

  • 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 regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BSN Gene

Genomics for BSN Gene

Regulatory Elements for BSN Gene

Genomic Location for BSN Gene

Start:
49,554,489 bp from pter
End:
49,671,551 bp from pter
Size:
117,063 bases
Orientation:
Plus strand

Genomic View for BSN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BSN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BSN Gene

Proteins for BSN Gene

  • Protein details for BSN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPA5-BSN_HUMAN
    Recommended name:
    Protein bassoon
    Protein Accession:
    Q9UPA5
    Secondary Accessions:
    • O43161
    • Q7LGH3

    Protein attributes for BSN Gene

    Size:
    3926 amino acids
    Molecular mass:
    416469 Da
    Quaternary structure:
    • Interacts with ERC2/CAST1, RIMS1 and UNC13A. Part of a complex consisting of ERC2, RIMS1 and BSN (By similarity).

neXtProt entry for BSN Gene

Proteomics data for BSN Gene at MOPED

Post-translational modifications for BSN Gene

  • Myristoylated. The N-terminal myristoylation is not sufficient for presynaptic localization (By similarity).
  • Glycosylation at Thr1343, Thr1384, Thr2314, Thr2691, and Thr2936
  • Modification sites at PhosphoSitePlus

Other Protein References for BSN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BSN Gene

Domains for BSN Gene

Protein Domains for BSN Gene

Suggested Antigen Peptide Sequences for BSN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BSN: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BSN Gene

Function for BSN Gene

Molecular function for BSN Gene

GENATLAS Biochemistry: Bassoon,presynaptic cytomatrix protein,overexpressed in cerebella of patients with multiple system atrophy (MSA) potential transcriptional regulator
UniProtKB/Swiss-Prot Function: 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 regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses (By similarity).

Gene Ontology (GO) - Molecular Function for BSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BSN: view
genes like me logo Genes that share phenotypes with BSN: view

Animal Model Products

miRNA for BSN Gene

miRTarBase miRNAs that target BSN

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BSN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BSN Gene

Localization for BSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for BSN Gene

Cytoplasm. Cell junction, synapse, synaptosome. Cytoplasm, cytoskeleton. Note=Localized to the active zone of presynaptic density. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BSN Gene COMPARTMENTS Subcellular localization image for BSN gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 9806829
GO:0014069 postsynaptic density IEA --
GO:0030054 cell junction IEA --
GO:0030424 axon IEA --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with BSN: view

Pathways for BSN Gene

SuperPathways for BSN Gene

Superpath Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with BSN: view

Pathways by source for BSN Gene

1 Cell Signaling Technology pathway for BSN Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS 10329005
GO:0007416 synapse assembly IEA --
genes like me logo Genes that share ontologies with BSN: view

Transcripts for BSN Gene

mRNA/cDNA for BSN Gene

(99) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BSN Gene

Bassoon presynaptic cytomatrix protein:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BSN

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BSN

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BSN Gene

No ASD Table

Relevant External Links for BSN Gene

GeneLoc Exon Structure for
BSN
ECgene alternative splicing isoforms for
BSN

Expression for BSN Gene

mRNA expression in normal human tissues for BSN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BSN Gene

This gene is overexpressed in Brain - Cortex (6.7), Brain - Cerebellum (6.5), Brain - Cerebellar Hemisphere (6.4), Brain - Frontal Cortex (BA9) (6.3), and Brain - Anterior cingulate cortex (BA24) (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BSN Gene

SOURCE GeneReport for Unigene cluster for BSN Gene Hs.194684

mRNA Expression by UniProt/SwissProt for BSN Gene

Q9UPA5-BSN_HUMAN
Tissue specificity: Exclusively expressed in brain.
genes like me logo Genes that share expressions with BSN: view

In Situ Assay Products

Orthologs for BSN Gene

This gene was present in the common ancestor of animals.

Orthologs for BSN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BSN 35
  • 99.13 (n)
  • 98.97 (a)
BSN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BSN 35
  • 86.87 (n)
  • 88.05 (a)
BSN 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BSN 35
  • 88.26 (n)
  • 89.51 (a)
BSN 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bsn 35
  • 86.4 (n)
  • 88.97 (a)
Bsn 16
Bsn 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BSN 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bsn 35
  • 86.29 (n)
  • 88.88 (a)
chicken
(Gallus gallus)
Aves BSN 35
  • 66.53 (n)
  • 63.35 (a)
BSN 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BSN 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bsn 35
  • 60.05 (n)
  • 60.17 (a)
zebrafish
(Danio rerio)
Actinopterygii BSN (1 of 3) 36
  • 48 (a)
OneToMany
BSN (2 of 3) 36
  • 45 (a)
OneToMany
BSN (3 of 3) 36
  • 49 (a)
OneToMany
LOC100004063 35
  • 54.26 (n)
  • 50.57 (a)
worm
(Caenorhabditis elegans)
Secernentea F45E4.3 36
  • 21 (a)
OneToMany
Species with no ortholog for BSN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BSN Gene

ENSEMBL:
Gene Tree for BSN (if available)
TreeFam:
Gene Tree for BSN (if available)

Paralogs for BSN Gene

Paralogs for BSN Gene

genes like me logo Genes that share paralogs with BSN: view

Variants for BSN Gene

Sequence variations from dbSNP and Humsavar for BSN Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs746147 -- 49,568,556(+) AGGTA(A/G)CAGAC intron-variant
rs1060962 -- 49,671,069(+) CATGT(G/T)CACTG utr-variant-3-prime
rs1060970 -- 49,671,336(+) CTCCT(C/T)CTTTA utr-variant-3-prime
rs1078341 -- 49,648,159(+) ACTTA(A/G)CATTA intron-variant
rs1138176 -- 49,664,831(+) CCTCA(C/T)TCTGG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for BSN Gene

Variant ID Type Subtype PubMed ID
nsv834687 CNV Loss 17160897
nsv508217 CNV Loss 20534489
nsv237379 CNV Insertion 16902084
esv1436359 CNV Insertion 17803354
nsv3812 CNV Loss 18451855

Relevant External Links for BSN Gene

HapMap Linkage Disequilibrium report
BSN
Human Gene Mutation Database (HGMD)
BSN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BSN Gene

Disorders for BSN Gene

Relevant External Links for BSN

Genetic Association Database (GAD)
BSN
Human Genome Epidemiology (HuGE) Navigator
BSN
genes like me logo Genes that share disorders with BSN: view

No data available for UniProtKB/Swiss-Prot for BSN Gene

Publications for BSN Gene

  1. 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. (PMID: 9806829) Hashida H. … Sakaki Y. (Genomics 1998) 2 3 4 23
  2. The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene. (PMID: 10329005) Winter C. … Gundelfinger E.D. (Genomics 1999) 2 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 3 4
  4. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. (PMID: 17554261) Parkes M. … Mathew C.G. (Nat. Genet. 2007) 3 48
  5. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (PMID: 17554300) (Nature 2007) 3 48

Products for BSN Gene

Sources for BSN Gene

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