2. Gene
  3. COPB2 - COPI coat complex subunit beta 2 Gene

COPB2 - COPI coat complex subunit beta 2 Gene

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

中文名称：COPI 外套复合物亚基 β 2

种属: Homo sapiens

同用名: OPDD; MCPH19; beta'-COP

基因 ID: 9276 | 基因类型: protein coding

关于 COPB2

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:139,357,406-139,389,680 (from NCBI)

This gene has 18 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 30.4), prostate (RPKM 28.2) and 25 other tissues.

功能概要

高尔基体 coatomer 复合体 (参见 MIM 601924) 构成了非网格蛋白涂层囊泡的外壳，对于高尔基体出芽和囊泡运输至关重要。它由 7 个蛋白质亚基组成，包括 COPB2。[OMIM 提供，2002 年 7 月]

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]

COPB2 基因产物(2)

mRNA Protein Name
NM_001410834.1 NP_001397763.1 coatomer subunit beta' isoform 2
NM_004766.3 NP_004757.1 coatomer subunit beta' isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21988832 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intra-Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
8335000 GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
IMP: 通过突变表型推断
34450031 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of COPI vesicle coat IDA
IDA: 通过直接分析推断
8335000 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

COPB2 蛋白结构

WD40

WD40: WD domain, G-beta repeat (7 - 43)

WD40

WD40: WD domain, G-beta repeat (91 - 127)

WD40

WD40: WD domain, G-beta repeat (132 - 170)

WD40

WD40: WD domain, G-beta repeat (178 - 215)

WD40

WD40: WD domain, G-beta repeat (220 - 257)

Coatomer_WDAD

Coatomer_WDAD: Coatomer WD associated region (319 - 762)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 906 a.a.
蛋白主名 其他名称

coatomer subunit beta'

beta'-coat protein

COPB2 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
Intra COPB2 P35606 NFKB1 Homo sapiens P19838
Y2H
21988832
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
Microcephaly 19, Primary, Autosomal Recessive

MCPH19

Primary Autosomal Recessive Microcephaly 19

Microcephaly, Type 19, Primary, Autosomal Recessive
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay

OPDD
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Cortical Blindness

Blindness, Cortical
Parainfluenza Virus Type 3

Human Parainfluenza Virus Type 3

Piv3
Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica
Primary Microcephaly

True Microcephaly

Microcephaly, Primary
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS03023 COPB2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus COPB2 VGNC VGNC:27594
Felis catus COPB2 VGNC VGNC:102680
Canis familiaris COPB2 VGNC VGNC:39505
Mus musculus COPB2 MGD MGI:1354962
Macaca mulatta COPB2 VGNC VGNC:71313
Rattus norvegicus COPB2 RGD RGD:628746
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