1. Gene
  2. A2M - alpha-2-macroglobulin Gene

A2M - alpha-2-macroglobulin Gene

中文名称:α-2-巨球蛋白

种属: Homo sapiens

同用名: A2MD; CPAMD5; FWP007; S863-7

基因 ID: 2 | 基因类型: protein coding

关于 A2M

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:9,067,708-9,116,229 (from NCBI)

This gene has 13 transcripts (splice variants), 228 orthologues and 8 paralogues. Broad expression in lung (RPKM 732.0), urinary bladder (RPKM 374.7) and 21 other tissues.

功能概要

该基因编码的蛋白质是一种蛋白酶抑制剂和细胞因子转运蛋白。它使用诱饵和陷阱机制来抑制广谱蛋白酶,包括胰蛋白酶、凝血酶和胶原酶。它还可以抑制炎症细胞因子,从而破坏炎症级联反应。该基因的突变是 alpha-2-巨球蛋白缺乏症的一个原因。该基因与阿尔茨海默病 (AD) 有关,因为它能够介导 A-β (β-淀粉样蛋白沉积物的主要成分) 的清除和降解。已经鉴定出一个相关的假基因,它也位于 12 号染色体的 p 臂上。[RefSeq 提供,2016 年 11 月]

The protein encoded by this gene is a Protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, Thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]

A2M 基因产物(4)

mRNA Protein Name
NM_000014.6 NP_000005.3 alpha-2-macroglobulin isoform a precursor
NM_001347423.2 NP_001334352.2 alpha-2-macroglobulin isoform a precursor
NM_001347424.2 NP_001334353.2 alpha-2-macroglobulin isoform b
NM_001347425.2 NP_001334354.2 alpha-2-macroglobulin isoform c
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium-dependent protein binding IPI
IPI: 通过物理相互作用推断
15226301 GOA
enables endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
7679575 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
11435418 GOA
enables growth factor binding IDA
IDA: 通过直接分析推断
9398211 GOA
enables interleukin-1 binding IDA
IDA: 通过直接分析推断
9714181 GOA
enables interleukin-8 binding IPI
IPI: 通过物理相互作用推断
10880251 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
7679575 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
6698368 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
12538697 GOA
enables signaling receptor binding IMP
IMP: 通过突变表型推断
15226301 GOA
enables tumor necrosis factor binding IDA
IDA: 通过直接分析推断
9714181 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of complement activation, lectin pathway IDA
IDA: 通过直接分析推断
12538697 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

A2M 蛋白结构

A2M_N

A2M_N: MG2 domain (129 - 221)

A2M_N_2

A2M_N_2: Alpha-2-macroglobulin family N-terminal region (459 - 607)

A2M

A2M: Alpha-2-macroglobulin family (738 - 828)

Thiol-ester_cl

Thiol-ester_cl: Alpha-macro-globulin thiol-ester bond-forming region (961 - 991)

A2M_comp

A2M_comp: A-macroglobulin complement component (1010 - 1265)

A2M_recep

A2M_recep: A-macroglobulin receptor (1376 - 1463)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1474 a.a.
蛋白主名 其他名称

alpha-2-macroglobulin

C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5

重组 A2M 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72823 Alpha-2-macroglobulin Protein, Human (sf9, His) NP_000005.2 (S24-A1474) ≥95%

关联疾病

疾病名称 别名
Alpha-2-Macroglobulin Deficiency

A2MD

Mastitis

Breast Inflammation

Inflammatory Breast Disease

Inflammatory Disease Of Breast

Inflammation Of Non-Human Mammary Gland

Inflammatory Disorder Of Breast

Mastitis Nos

Acute Mastitis Nos

Acute Nonpuerperal Mastitis

Nonpuerperal Mastitis Nos

Subacute Mastitis Nos

Subendocardial Myocardial Infarction
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy

Hereditary Cerebral Hemorrhage With Amyloidosis

Hchwa

Hereditary Cystatin C Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Familial

Amyloidosis, Cerebroarterial, Icelandic Type

Amyloidosis Vi

Cerebral Hemorrhage, Hereditary, With Amyloidosis

Cst3-Related Cerebral Amyloid Angiopathy

Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant

Caa, Familial

Cerebral Amyloid Angiopathy, Genetic

Acys Amyloidosis

Cst3-Related Amyloidosis

Cystatin Amyloidosis

Hchwa, Icelandic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type

Amyloidosis 6

AMYL6

Acys

Caa

Cerebral Amyloid Angiopathy Cst3-Related

Cerebroarterial Amyloidosis Icelandic Type

Cystatin C Amyloidosis

Hccaa

Hchwai

Hchwa-I

Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type

Cerebral Amyloid Angiopathy Familial

Angiopathy, Amyloid, Cerebral, Cst3-Related

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

Familial Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Hereditary

Breast Intraductal Papillomatosis

Breast Papillomatosis

Intraductal Papillomatosis Of The Breast

Disseminated Chorioretinitis
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

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

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 A2M RGD RGD:2004
Felis catus A2M VGNC VGNC:97332
Mus musculus A2M MGD MGI:2449119
Bos taurus A2M VGNC VGNC:55837
Others A2M NCBI