1. Gene
  2. BSN - bassoon presynaptic cytomatrix protein Gene

BSN - bassoon presynaptic cytomatrix protein Gene

Homo sapiens

Also known as ZNF231

Gene ID: 8927 | Gene type: protein coding

About BSN

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,554,477-49,673,130 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues and 1 paralogue. Biased expression in brain (RPKM 13.0), testis (RPKM 2.3) and 1 other tissue.

Summary

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]

BSN Products(1)

mRNA Protein Name
NM_003458.4 NP_003449.2 protein bassoon

BSN Protein Structure

zf-piccolo

zf-piccolo: Piccolo Zn-finger (167 - 226)

zf-piccolo

zf-piccolo: Piccolo Zn-finger (462 - 521)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 3926 a.a.
Protein Preferred Names Protein Names

protein bassoon

neuronal double zinc finger protein

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Cork-Handlers' Lung

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Cork-Handler Disease

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Cone-Rod Dystrophy 7

CORD7

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Retinitis Pigmentosa 7

Atrial Septal Defect 2

ASD2

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Atrial Septal Defect-2

Asd Ii

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Congenital Stationary Night Blindness

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Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Schizophrenia

SCZD

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Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

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Cone-Rod Dystrophy 2

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CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

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Crd2

Cord

Crd

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Tapetoretinal Degeneration

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Cone Rod Dystrophy

Dystrophy, Cone-Rod

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Retinitis Pigmentosa

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Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP

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Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

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Tapetoretinal Degeneration

Rcd

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ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Diseases Alias
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Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris BSN VGNC VGNC:54578
Mus musculus BSN MGD MGI:1277955
Rattus norvegicus BSN RGD RGD:2223
Felis catus BSN VGNC VGNC:60188
Bos taurus BSN VGNC VGNC:59321
Macaca mulatta BSN VGNC VGNC:70284