APBA2 - amyloid beta precursor protein binding family A member 2 Gene

中文名称：淀粉样蛋白前体蛋白结合家族 A 成员 2

种属: Homo sapiens

同用名: X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091

基因 ID: 321 | 基因类型: protein coding

关于 APBA2

Cytogenetic location: 15q13.1 Genomic coordinates (GRCh38): 15:28,885,974-29,118,315 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 267 orthologues and 4 paralogues. Biased expression in brain (RPKM 16.8), spleen (RPKM 2.5) and 4 other tissues.

功能概要

该基因编码的蛋白质是 X11 蛋白家族的一员。它是一种与阿尔茨海默病淀粉样前体蛋白 (APP) 相互作用的神经元衔接蛋白。它稳定 APP 并抑制蛋白水解 APP 片段的产生，包括沉积在阿尔茨海默病患者大脑中的 A β 肽。该基因产物被认为参与信号转导过程。它也被认为是大脑中一种推定的囊泡运输蛋白，可以形成一种复合物，具有将突触囊泡胞吐作用与神经元细胞粘附结合的潜力。[RefSeq 提供，2017 年 7 月]

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]

APBA2 基因产物(13)

mRNA	Protein	Name
NM_001130414.1	NP_001123886.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353788.2	NP_001340717.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353789.2	NP_001340718.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353790.2	NP_001340719.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353791.2	NP_001340720.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_001353792.2	NP_001340721.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353793.2	NP_001340722.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353794.2	NP_001340723.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform b
NM_001353795.2	NP_001340724.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform c
NM_001353796.2	NP_001340725.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform d
NM_001353797.2	NP_001340726.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform e
NM_001379685.1	NP_001366614.1	amyloid-beta A4 precursor protein-binding family A member 2 isoform a
NM_005503.3	NP_005494.2	amyloid-beta A4 precursor protein-binding family A member 2 isoform a

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 identical protein binding	IPI IPI: 通过物理相互作用推断	29578633	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10833507	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

APBA2 蛋白结构

PID

PDZ

0
200
400
600
749 a.a.

蛋白主名

其他名称

amyloid-beta A4 precursor protein-binding family A member 2

X11-like protein

APBA2 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	APBA2	Q99767	CLSTN1	Homo sapiens	O94985	FPS	29578633
种属内	APBA2	Q99767	APEX2	Homo sapiens	Q9UBZ4	Y2H Fragment Pooling	31413325
种属内	APBA2	Q99767	APP	Homo sapiens	P05067	FPS	29578633
种属内	APBA2	Q99767	APP	Homo sapiens	P05067	Y2H Fragment Pooling	31413325
种属内	APBA2	Q99767	IQSEC1	Homo sapiens	Q6DN90	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	DMWD	Homo sapiens	Q09019	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	APBA1	Homo sapiens	Q02410	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	ZNF518A	Homo sapiens	Q6AHZ1	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	33961781
种属内	APBA2	Q99767	USP20	Homo sapiens	Q9Y2K6	Anti Tag CoIP	33961781
种属内	APBA2	Q99767	HERC2	Homo sapiens	O95714	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	USP20	Homo sapiens	Q9Y2K6	Anti Tag CoIP	28514442
种属内	APBA2	Q99767	HERC2	Homo sapiens	O95714	Anti Tag CoIP	33961781
种属内	APBA2	Q99767	APBA2	Homo sapiens	Q99767	FPS	29578633
种属内	APBA2	Q99767	IQSEC1	Homo sapiens	Q6DN90	Anti Tag CoIP	33961781
种属内	APBA2	Q99767	DMWD	Homo sapiens	Q09019	Anti Tag CoIP	33961781
种属内	APBA2	Q99767	APBA1	Homo sapiens	Q02410	Anti Tag CoIP	33961781
种属内	APBA2	Q99767	ZNF518A	Homo sapiens	Q6AHZ1	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

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome
15q13.3 Microdeletion	Microdeletion 15q13.3 Syndrome
Del(15)(Q13.3)	Monosomy 15q13.3

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00803	APBA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	APBA2	RGD	RGD:620845
Felis catus	APBA2	VGNC	VGNC:67734
Macaca mulatta	APBA2	VGNC	VGNC:69977
Bos taurus	APBA2	VGNC	VGNC:26001
Canis familiaris	APBA2	VGNC	VGNC:37975
Mus musculus	APBA2	MGD	MGI:1261791

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