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

BSN - bassoon presynaptic cytomatrix protein Gene

中文名称:巴松管突触前细胞基质蛋白

种属: Homo sapiens

同用名: ZNF231

基因 ID: 8927 | 基因类型: protein coding

关于 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.

功能概要

神经递质从称为活性区的轴突末端的特定部位释放,该部位由突触小泡和质膜下方的细胞骨架网组成。由该基因编码的蛋白质被认为是参与组织突触前细胞骨架的支架蛋白。该基因主要在大脑的神经元中表达。啮齿动物中的一种类似基因产物集中在轴突末端的活性区,并与细胞骨架结构紧密相关,对于调节突触子集的神经递质释放至关重要。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_003458.4 NP_003449.2 protein bassoon

BSN 蛋白结构

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.
蛋白主名 其他名称

protein bassoon

neuronal double zinc finger protein

关联疾病

疾病名称 别名
Cork-Handlers' Disease

Suberosis

Cork-Handlers' Disease Or Lung

Cork-Handlers' Lung

Corkhandler Disease

Corkworker Lung

Corkhandler Hypersensitivity Pneumonitis

Cork-Handler Disease

Cork-Handler Lung

Cone-Rod Dystrophy 7

CORD7

Dystrophy, Cone-Rod, Type 7

Retinitis Pigmentosa 7

Atrial Septal Defect 2

ASD2

Atrial Heart Septal Defect 2

Atrial Septal Defect-2

Asd Ii

Septal Defect, Atrial, Type 2

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 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