1. Gene
  2. AOC2 - amine oxidase copper containing 2 Gene

AOC2 - amine oxidase copper containing 2 Gene

中文名称:含铜胺氧化酶 2

种属: Homo sapiens

同用名: RAO; DAO2; SSAO

基因 ID: 314 | 基因类型: protein coding

关于 AOC2

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:42,844,580-42,850,707 (from NCBI)

This gene has 2 transcripts (splice variants), 266 orthologues and 2 paralogues. Broad expression in fat (RPKM 4.0), testis (RPKM 2.5) and 14 other tissues.

功能概要

在铜和醌辅因子存在下,铜胺氧化酶催化胺氧化转化为醛和氨。该基因与从细菌到哺乳动物的各种物种的铜胺氧化酶具有高度序列相似性。该蛋白质包含几个保守基序,包括胺氧化酶的活性位点和可能结合铜的组氨酸残基。它可能是视网膜信号传输的关键调节剂,可能通过降解生物胺多巴胺、组胺和腐胺来实现。该基因可能是遗传性眼病的候选基因。交替剪接导致多个转录本变体。[RefSeq 提供,2008 年 7 月]

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

AOC2 基因产物(2)

mRNA Protein Name
NM_001158.5 NP_001149.2 retina-specific copper amine oxidase isoform a precursor
NM_009590.4 NP_033720.2 retina-specific copper amine oxidase isoform b precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables primary methylamine oxidase activity IDA
IDA: 通过直接分析推断
19588076 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19588076 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
19588076 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

AOC2 蛋白结构

Cu_amine_oxidN2

Cu_amine_oxidN2: Copper amine oxidase, N2 domain (62 - 148)

Cu_amine_oxidN3

Cu_amine_oxidN3: Copper amine oxidase, N3 domain (165 - 262)

Cu_amine_oxid

Cu_amine_oxid: Copper amine oxidase, enzyme domain (307 - 718)

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

retina-specific copper amine oxidase

amine oxidase, copper containing 2 (retina-specific)

AOC2 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
AOC2 O75106 AQP6 Homo sapiens Q13520 32296183
种属内
AOC2 O75106 AQP6 Homo sapiens Q13520 32296183
种属内
AOC2 O75106 AQP6 Homo sapiens Q13520 32296183
种属内
AOC2 O75106 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
AOC2 O75106 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
AOC2 O75106 ERGIC3 Homo sapiens Q9Y282 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 AOC2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78881 Fc gamma RIIIB/CD16b Protein, Human (Biotinylated, NA1, HEK293, His-Avi) AAA35881.1 (G17-S200) ≥95%

关联疾病

疾病名称 别名
Median Neuropathy
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Rattus norvegicus AOC2 RGD RGD:727941
Mus musculus AOC2 MGD MGI:2668431
Macaca mulatta AOC2 VGNC VGNC:69955
Canis familiaris AOC2 VGNC VGNC:37948
Bos taurus AOC2 VGNC VGNC:25973