1. Gene
  2. APBB2 - amyloid beta precursor protein binding family B member 2 Gene

APBB2 - amyloid beta precursor protein binding family B member 2 Gene

中文名称:淀粉样蛋白前体蛋白结合家族 B 成员 2

种属: Homo sapiens

同用名: FE65L; FE65L1

基因 ID: 323 | 基因类型: protein coding

关于 APBB2

Cytogenetic location: 4p14-p13 Genomic coordinates (GRCh38): 4:40,810,027-41,214,542 (from NCBI)

This gene has 30 transcripts (splice variants), 285 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 13.0), thyroid (RPKM 11.7) and 24 other tissues.

功能概要

该基因编码的蛋白质与β淀粉样蛋白 (A4) 前体蛋白和β淀粉样蛋白 (A4) 前体样蛋白 2 的细胞质结构域相互作用。该蛋白质包含两个磷酸酪氨酸结合 (PTB) 结构域,被认为在信号转导中起作用.该基因的多态性与阿尔茨海默病有关。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 10 月]

The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

APBB2 基因产物(9)

mRNA Protein Name
NM_001166050.2 NP_001159522.1 amyloid beta precursor protein binding family B member 2 isoform b
NM_001166051.2 NP_001159523.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001166052.2 NP_001159524.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001166053.1 NP_001159525.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001166054.1 NP_001159526.1 amyloid beta precursor protein binding family B member 2 isoform d
NM_001330656.2 NP_001317585.1 amyloid beta precursor protein binding family B member 2 isoform e
NM_001330658.2 NP_001317587.1 amyloid beta precursor protein binding family B member 2 isoform e
NM_004307.2 NP_004298.1 amyloid beta precursor protein binding family B member 2 isoform a
NM_173075.5 NP_775098.2 amyloid beta precursor protein binding family B member 2 isoform c
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
8855266 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cell cycle phase transition IDA
IDA: 通过直接分析推断
12089154 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12089154 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
14527950 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
14527950 GOA
located in early endosome IDA
IDA: 通过直接分析推断
14527950 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
14527950 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12089154 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

APBB2 蛋白结构

WW

WW: WW domain (292 - 320)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (419 - 554)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (590 - 711)

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

amyloid beta precursor protein binding family B member 2

Fe65-like 1

APBB2 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
APBB2 Q92870 EGFR Homo sapiens P00533
Protein Array
16273093
种属内
APBB2 Q92870 APP Homo sapiens P05067
Anti Tag CoIP
33961781
种属内
APBB2 Q92870 APP Homo sapiens P05067
Anti Tag CoIP
8855266
种属内
APBB2 Q92870 APP Homo sapiens P05067
Y2H
8855266
种属内
APBB2 Q92870 APLP2 Homo sapiens Q06481
Anti Tag CoIP
33961781
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
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Bos taurus APBB2 VGNC VGNC:26005
Felis catus APBB2 VGNC VGNC:67737
Mus musculus APBB2 MGD MGI:108405
Canis familiaris APBB2 VGNC VGNC:37979
Macaca mulatta APBB2 VGNC VGNC:69980
Rattus norvegicus APBB2 RGD RGD:1562438