1. Gene
  2. MMP12 - matrix metallopeptidase 12 Gene

MMP12 - matrix metallopeptidase 12 Gene

中文名称:基质金属肽酶 12

种属: Homo sapiens

同用名: ME; HME; MME; MMP-12

基因 ID: 4321 | 基因类型: protein coding

关于 MMP12

Cytogenetic location: 11q22.2 Genomic coordinates (GRCh38): 11:102,862,736-102,874,982 (from NCBI)

This gene has 1 transcript (splice variant), 559 orthologues and 23 paralogues. Biased expression in appendix (RPKM 25.3), urinary bladder (RPKM 15.0) and 7 other tissues.

功能概要

该基因编码基质金属蛋白酶 (MMP) 肽酶 M10 家族的成员。该家族中的蛋白质参与正常生理过程 (如胚胎发育、繁殖和组织重塑) 以及疾病过程 (如关节炎和转移) 中细胞外基质的分解。编码的前原蛋白经过蛋白水解处理以产生成熟的蛋白酶。这种蛋白酶降解可溶性和不溶性弹性蛋白。该基因可能在动脉瘤形成中发挥作用,该基因的突变与肺功能和慢性阻塞性肺病 (COPD) 相关。该基因是 11 号染色体上 MMP 基因簇的一部分。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the peptidase M10 family of Matrix Metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

MMP12 基因产物(1)

mRNA Protein Name
NM_002426.6 NP_002417.2 macrophage metalloelastase preproprotein
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 calcium ion binding IMP
IMP: 通过突变表型推断
11575928 GOA
enables collagen binding IPI
IPI: 通过物理相互作用推断
19932771 GOA
enables core promoter sequence-specific DNA binding IMP
IMP: 通过突变表型推断
24784232 GOA
enables metalloendopeptidase activity IDA
IDA: 通过直接分析推断
24784232 GOA
enables metalloendopeptidase activity IMP
IMP: 通过突变表型推断
19932771 GOA
enables sequence-specific DNA binding IMP
IMP: 通过突变表型推断
24784232 GOA
enables zinc ion binding IMP
IMP: 通过突变表型推断
11575928 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in elastin catabolic process IDA
IDA: 通过直接分析推断
29101312 GOA
involved in negative regulation of endothelial cell-matrix adhesion via fibronectin IDA
IDA: 通过直接分析推断
29101312 GOA
involved in positive regulation of epithelial cell proliferation involved in wound healing IDA
IDA: 通过直接分析推断
15802269 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
24784232 GOA
involved in protein import into nucleus IMP
IMP: 通过突变表型推断
24784232 GOA
involved in proteolysis IDA
IDA: 通过直接分析推断
24784232 GOA
involved in proteolysis IMP
IMP: 通过突变表型推断
19932771 GOA
involved in wound healing, spreading of epidermal cells IDA
IDA: 通过直接分析推断
15802269 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
24784232 GOA
located in extracellular space IMP
IMP: 通过突变表型推断
24784232 GOA
located in nucleus IMP
IMP: 通过突变表型推断
24784232 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

MMP12 蛋白结构

PG_binding_1

PG_binding_1: Putative peptidoglycan binding domain (27 - 87)

Peptidase_M10

Peptidase_M10: Matrixin (109 - 263)

Hemopexin

Hemopexin: Hemopexin (288 - 330)

Hemopexin

Hemopexin: Hemopexin (332 - 374)

Hemopexin

Hemopexin: Hemopexin (380 - 426)

Hemopexin

Hemopexin: Hemopexin (429 - 470)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 470 a.a.
蛋白主名 其他名称

macrophage metalloelastase

matrix metallopeptidase 12 (macrophage elastase)

matrix metalloproteinase 12 (macrophage elastase)

重组 MMP12 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74744 MMP-12 Protein, Human P39900 (G106-N268) ≥95%

关联疾病

疾病名称 别名
Aortic Aneurysm, Familial Abdominal, 1

Abdominal Aortic Aneurysm

Aortic Aneurysm, Familial Abdominal 1

Aneurysm, Abdominal Aortic

AAA

Aortic Aneurysm, Abdominal

AAA1

Aortic Aneurysm, Familial Abdominal

Aortic Aneurysm Abdominal

Abdominal Aortic Aneurysms

Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture

Abdomen Aneurysm

Abdominal Aorta Aneurysm

Aneurysm Of Abdominal Aorta

Aortic Abdomen Aneurysm

Aaa - [Abdominal Aortic Aneurysm]

Abdominal Aneurysm

Abdominal Aorta Aneurysm Rupture

Abdominal Aorta Aneurysm Ruptured

Abdominal Aortic Aneurysm Which Has Ruptured

Ruptured Aaa

Abdomen Aorta Aneurysm Ruptured

Abdomen Aorta Rupture

Abdomen Aortic Aneurysm Rupture

Abdomen Aneurysm Rupture

Abdomen Aortic Aneurysm Ruptured

Abdomen Aortic Rupture

Abdominal Aorta Rupture

Abdominal Aortic Rupture

Rupture Abdomen Aorta Aneurysm

Rupture Abdominal Aortic Aneurysm

Ruptured Abdomen Aneurysm

Ruptured Abdomen Aorta

Ruptured Abdomen Aortic

Ruptured Abdominal Aneurysm

Ruptured Abdominal Aorta

Ruptured Abdominal Aortic

Ruptured Aorta Abdominalis Aneurysm

False Abdomen Aorta Aneurysm Ruptured

False Abdominal Aortic Aneurysm Ruptured

False Abdominal Aorta Aneurysm Ruptured

False Abdomen Aortic Aneurysm Ruptured

Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

Pulmonary Emphysema
Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Vascular Anomaly

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Anti-Basement Membrane Glomerulonephritis

Anti-Gbm Glomerulonephritis

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Cryptogenic Fibrosing Alveolitis

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Aortic Dissection
Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Pulmonary Disease, Chronic Obstructive

Chronic Obstructive Pulmonary Disease

COPD

Pulmonary Disease, Chronic Obstructive, Severe Early-Onset

Chronic Obstructive Lung Disease

Chronic Obstructive Airway Disease

Pulmonary Disease, Chronic Obstructive, Susceptibility To

Cold

Severe Early-Onset Chronic Obstructive Pulmonary Disease

Pulmonary Disease Chronic Obstructive

Pulmonary Disease, Obstructive, Chronic, Susceptibility To

Chronic Obstructive Pulmonary Disease Of Horses

Common Cold

Upper Respiratory Infections

Copd - [Chronic Obstructive Pulmonary Disease]

Coad - [Chronic Obstructive Airways Disease]

Cold - [Chronic Obstructive Lung Disease]

Chronic Airway Disease Nos

Chronic Airways Limitation, Unspecified

Chronic Obstructed Airway, Unspecified

Chronic Obstructive Airway Disease, Unspecified

Chronic Obstructive Airway, Unspecified

Obstructive Lung Disease Nos

Chronic Obstructive Lung Disease Nos

Chronic Obstructive Lung Nos

Obstructive Pulmonary Disease Nos

Exacerbation Copd Nos

Acute Exacerbation Copd

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Congenital Anomaly Of Heart

Heart Defect

Heart Malformation

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Aortic Aneurysm

Aortic Rupture

Thoracoabdominal Aortic Aneurysm, Ruptured

Ruptured Aortic Aneurysm

Aortic Aneurysms

Aortic Aneurysm Without Mention Of Rupture Nos

Ruptured Abdominal Aortic Aneurysm

Aortic Aneurysm, Ruptured

Ruptured Thoracic Aortic Aneurysm

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

Aat Deficiency

Aatd

A1ATD

Emphysema Due To Aat Deficiency

A1at Deficiency

Hemorrhagic Diathesis Due To Antithrombin Pittsburgh

Emphysema-Cirrhosis, Due To Aat Deficiency

Alpha-1 Antiprotease Deficiency

Alpha 1 Antitrypsin Deficiency

Aat

Alpha-1 Protease Inhibitor Deficiency

Alpha-1 Related Emphysema

Genetic Emphysema

Hereditary Pulmonary Emphysema

Inherited Emphysema

Alpha-1-Proteinase Inhibitor Deficiency

Alpha1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency, Autosomal Recessive

Emphysema, Hereditary Pulmonary

Aatd - [Alpha-1-Antitrypsin] Deficiency

Pneumonia

Acute Pneumonia

Pneumonias

Infectious Pneumonia

Pn - [Pneumonia]

Lobar Pneumonia Nos

Multifocal Pneumonia

Orthostatic Pneumonia

Pneumonia Nos

Chronic Pneumonia Nos

Atypical Pneumonia

Passive Pneumonia

Purulent Pneumonia

Interstitial Lobar Pneumonia

Pneumonia, Unspecified

Pneumonia Due To Chlamydia

Pneumonia Due To Chlamydia Pneumoniae

Pneumonia Due To E. Coli

Escherichia Coli Lobar Pneumonia

Pneumonia Due To H. Influenzae

Pneumonia Due To Hemophilus Influenzae

Bronchopneumonia Due To H. Influenzae

Haemophilus Influenzae Lobar Pneumonia

Bronchopneumonia Due To Hemophilus Influenzae

Pseudomonal Pneumonia

Pseudomonas Pneumonia

Pseudomonas Lobar Pneumonia

Staphylococcal Pneumonia

Staphylococcus Pneumonia

Acute Staphylococcal Pneumonia

Staphylococcal Double Pneumonia

Staphylococcal Lobar Pneumonia

Staphylococcal Purulent Pneumonia

Staphylococcal Bronchopneumonia

Pneumococcal Pneumonia

Pneumococcus Pneumonia

Bronchopneumonia Due To S. Pneumoniae

Pneumococcal Lobar Pneumonia

Streptococcal Pneumoniae Pneumonia

Streptococcus Pneumoniae Lobar Pneumonia

Pyemic Pneumococcal Embolism With Pneumonia

Bronchopneumonia Due To Streptococcus Pneumoniae

Pneumonia Due To Streptococcus, Group B

Group B Streptococcal Pneumonia

Adenovirus Pneumonia

Adenoviral Pneumonia

Adenovirus Viral Pneumonia

Pneumonia Respiratory Syncytial Viral

Parainfluenza Viral Pneumonia

Parainfluenzal Pneumonia

Parainfluenza Virus Pneumonia

Human Metapneumovirus Pneumonia

Human Metapneumovirus Infection Resulting In Pneumonia

Pneumocystis Pneumonia

Plasma Cells Pneumonia

Dermatitis Herpetiformis

Duhring'S Disease

Duhring-Brocq Disease

Dermatosis Herpetiformis

Brocq-Duhring Disease

Dh

Duhring Brocq Disease

Dh - [Dermatitis Herpetiformis]

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Anaplastic Astrocytoma

Grade Iii Astrocytoma

Grade Iii Astrocytic Tumor

Astrocytoma, Anaplastic

Bronchitis

Chronic Bronchitis

Acute Bronchitis

Bronchitis, Chronic

Acute Bronchitis And Bronchiolitis

Chest Cold

Chest Infection

Ci - Chest Infection

Recurrent Wheezy Bronchitis

Bronchitis Chronic

Lower Respiratory Tract Infection

Acute Lower Respiratory Tract Infection

Chronic Bronchitis Nos

Senile Bronchitis

Bronchitis Nos In Those Under L5 Years Of Age

Bronchitis Nos

Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

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
Canis familiaris MMP12 VGNC VGNC:43275
Rattus norvegicus MMP12 RGD RGD:620195
Felis catus MMP12 VGNC VGNC:68280
Mus musculus MMP12 MGD MGI:97005
Bos taurus MMP12 VGNC VGNC:106824
Macaca mulatta MMP12 VGNC VGNC:74890
Others MMP12 NCBI