2. Gene
  3. BEST4 - bestrophin 4 Gene

BEST4 - bestrophin 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：促动蛋白 4

种属: Homo sapiens

同用名: VMD2L2

基因 ID: 266675 | 基因类型: protein coding

关于 BEST4

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:44,781,840-44,792,828 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues and 3 paralogues. Biased expression in colon (RPKM 7.6), duodenum (RPKM 2.6) and 2 other tissues.

功能概要

该基因是阴离子通道的 bestrophin 基因家族的成员。 Bestrophin 基因具有相似的基因结构，具有高度保守的外显子-内含子边界，但具有不同的 3' 末端。 Bestrophins 是一种跨膜蛋白，含有富含芳香族残基的同源区域，包括不变的 arg-phe-pro 基序。其中一个家族成员 (bestrophin 1) 的突变与卵黄样黄斑营养不良有关。 bestrophin 4 基因主要在结肠中表达。[RefSeq 提供，2008 年 7 月]

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008]

BEST4 基因产物(1)

mRNA Protein Name
NM_153274.3 NP_695006.1 bestrophin-4
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables bicarbonate channel activity IDA
IDA: 通过直接分析推断
18400985 GOA
enables chloride channel activity IDA
IDA: 通过直接分析推断
18400985 GOA
enables intracellularly calcium-gated chloride channel activity IDA
IDA: 通过直接分析推断
12907679 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BEST4 蛋白结构

Bestrophin

Bestrophin: Bestrophin, RFP-TM, chloride channel (1 - 332)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 473 a.a.
蛋白主名 其他名称

bestrophin-4

vitelliform macular dystrophy 2-like 2

关联疾病

疾病名称 别名
Vitelliform Macular Dystrophy

Best Disease

Juvenile-Onset Vitelliform Macular Dystrophy

Macular Dystrophy, Vitelliform

Best Macular Dystrophy

Vitelliform Dystrophy
Vitreoretinochoroidopathy

Autosomal Dominant Vitreoretinochoroidopathy

Advirc

Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract

Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos

Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2

Vitreoretinochoroidopathy Dominant

VRCP

Vitreoretinochoroidopathy, Autosomal Dominant

Vrcp Autosomal Dominant

Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma

Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Bestrophinopathy, Autosomal Recessive

Bestrophinopathy

Autosomal Recessive Bestrophinopathy

ARB

Bestrophinopathies

Retinopathy, Burgess-Black Type

Retinopathy Burgess-Black Type
Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophies
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01477 BEST4 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus BEST4 RGD RGD:1596200
Felis catus BEST4 VGNC VGNC:60104
Macaca mulatta BEST4 VGNC VGNC:106324
Bos taurus BEST4 VGNC VGNC:26474
Canis familiaris BEST4 VGNC VGNC:38437
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