2. Gene
  3. BEST2 - bestrophin 2 Gene

BEST2 - bestrophin 2 Gene

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

中文名称：促凝蛋白 2

种属: Homo sapiens

同用名: VMD2L1

基因 ID: 54831 | 基因类型: protein coding

关于 BEST2

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,751,791-12,758,458 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues and 3 paralogues. Restricted expression toward colon (RPKM 11.0).

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 2 基因主要表达于视网膜色素上皮和结肠。[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 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]

BEST2 基因产物(1)

mRNA Protein Name
NM_017682.3 NP_060152.2 bestrophin-2
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 ligand-gated monoatomic ion channel activity IDA
IDA: 通过直接分析推断
36289327 GOA
enables ligand-gated monoatomic cation channel activity IMP
IMP: 通过突变表型推断
35789156 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

BEST2 蛋白结构

Bestrophin

Bestrophin: Bestrophin, RFP-TM, chloride channel (1 - 316)

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

bestrophin-2

VMD2-like gene 1

BEST2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BEST2 Q8NFU1 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
种属内
BEST2 Q8NFU1 UNC93B1 Homo sapiens Q9H1C4
Validated Y2H
32296183
种属内
BEST2 Q8NFU1 RFT1 Homo sapiens Q96AA3
Validated Y2H
32296183
种属内
BEST2 Q8NFU1 DNAJC30 Homo sapiens Q96LL9
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

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
Retinitis Pigmentosa 50

RP50

Retinitis Pigmentosa, Concentric

Retinitis Pigmentosa-50

Retinitis Pigmentosa Concentric
Miliaria Profunda

Icd10cm:L74.2

Snomedct_us_2020_03_01:47317002
Viral Esophagitis
Miliaria Crystallina
Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophies
Bestrophinopathy, Autosomal Recessive

Bestrophinopathy

Autosomal Recessive Bestrophinopathy

ARB

Bestrophinopathies

Retinopathy, Burgess-Black Type

Retinopathy Burgess-Black Type
Hernia, Hiatus

Hiatal Hernia

Hiatus Hernia

Diaphragmatic - Hiatus -Hernia

Hernia, Hiatal
Retinal Degeneration

Degeneration Of Retina
Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis
Esophagus Adenocarcinoma

Esophageal Adenocarcinoma

Oesophageal Adenocarcinoma

Adenocarcinoma Of Esophagus

Adenocarcinoma Of The Esophagus
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-RS01475 BEST2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris BEST2 VGNC VGNC:38435
Bos taurus BEST2 VGNC VGNC:26472
Mus musculus BEST2 MGD MGI:2387588
Felis catus BEST2 VGNC VGNC:60103
Macaca mulatta BEST2 VGNC VGNC:108479
Rattus norvegicus BEST2 RGD RGD:1305377
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