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  2. AIM2 - absent in melanoma 2 Gene

AIM2 - absent in melanoma 2 Gene

中文名称:黑色素瘤中缺失 2

种属: Homo sapiens

同用名: PYHIN4

基因 ID: 9447 | 基因类型: protein coding

关于 AIM2

Cytogenetic location: 1q23.1-q23.2 Genomic coordinates (GRCh38): 1:159,055,051-159,147,132 (from NCBI)

This gene has 8 transcripts (splice variants), 48 orthologues and 3 paralogues. Biased expression in lymph node (RPKM 9.4), appendix (RPKM 5.0) and 5 other tissues.

功能概要

AIM2 是 IFI20X /IFI16 系列的成员。它在致瘤性逆转中起着推定的作用,并可能控制细胞增殖。干扰素-γ 诱导 AIM2 的表达。[RefSeq 提供,2008 年 7 月]

AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]

AIM2 基因产物(2)

mRNA Protein Name
NM_001348247.2 NP_001335176.1 interferon-inducible protein AIM2 isoform 2
NM_004833.3 NP_004824.1 interferon-inducible protein AIM2 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 cysteine-type endopeptidase activator activity IDA
IDA: 通过直接分析推断
19158679 GOA
enables double-stranded DNA binding IDA
IDA: 通过直接分析推断
19158675 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
19158676 GOA
enables pattern recognition receptor activity IDA
IDA: 通过直接分析推断
26197926 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19158675 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
23530044 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of AIM2 inflammasome complex IDA
IDA: 通过直接分析推断
19158676 GOA
part of AIM2 inflammasome complex IPI
IPI: 通过物理相互作用推断
24630722 GOA
is active in cytoplasm IDA
IDA: 通过直接分析推断
8454910 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19158676 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

AIM2 蛋白结构

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (6 - 83)

HIN

HIN: HIN-200/IF120x domain (150 - 317)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
蛋白主名 其他名称

interferon-inducible protein AIM2

重组 AIM2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72816 AIM2 Protein, Human (sf9, GST) O14862/NP_004824.1 (M1-T343) ≥95%

关联疾病

疾病名称 别名
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Brucellosis

Mediterranean Fever

Malta Fever

Undulant Fever

Gibraltar Fever

Bang'S Disease

Maltese Fever

Cyprus Fever

Rock Fever

Brucellosis Infection

Brucella Infection

Tularemia

Francisella Tularensis Infection

Deerfly Fever

Lemming Fever

Ohara Disease

Pahvant Valley Plague

Rabbit Fever

Yatobyo

Renal Infectious Disease
Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes

Muckle-Wells Syndrome

MWS

Urticaria-Deafness-Amyloidosis Syndrome

Uda Syndrome

Neutrophilic Urticaria

Urticaria, Deafness And Amyloidosis

Cryopyrin-Associated Periodic Syndrome 2

Caps2

Muckle Wells Syndrome

Urticaria-Deafness-Amyloidosis

Cryopyrin-Associated Periodic Syndromes

Pneumonic Tularemia

Pulmonary Tularemia

Bronchopneumonic Tularemia

Pneumonic Tularaemia

Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity

Colon Sarcoma

Colonic Sarcoma

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

Salmonellosis

Salmonella Infections

Salmonella Infection

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 AIM2 RGD RGD:1307283
Mus musculus AIM2 MGD MGI:2686159