1. Gene
  2. MASP2 - MBL associated serine protease 2 Gene

MASP2 - MBL associated serine protease 2 Gene

中文名称:MBL 相关丝氨酸蛋白酶 2

种属: Homo sapiens

同用名: sMAP; MAP-2; MAP19; MASP-2; MASP1P1

基因 ID: 10747 | 基因类型: protein coding

关于 MASP2

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,026,523-11,047,239 (from NCBI)

This gene has 17 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 26.8), bone marrow (RPKM 2.7) and 7 other tissues.

功能概要

该基因编码丝氨酸蛋白酶肽酶 S1 家族的成员。编码的前原蛋白经过蛋白水解处理,生成 A 链和 B 链,这些链异二聚化形成成熟蛋白酶。该蛋白酶切割补体成分 C2 和 C4,以便在补体系统的凝集素途径中产生 C3 转化酶。编码的蛋白酶还通过裂解凝血酶原形成凝血酶,在凝血级联反应中发挥作用。心肌梗塞和急性中风患者表现出编码蛋白的血清浓度降低。可变剪接导致多个转录本变体,其中至少一个编码一种经过蛋白水解处理的亚型。[RefSeq 提供,2016 年 2 月]

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature Protease. This Protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the Complement System. The encoded Protease also plays a role in the coagulation cascade through cleavage of prothrombin to form Thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

MASP2 基因产物(4)

mRNA Protein Name
NM_006610.4 NP_006601.2 mannan-binding lectin serine protease 2 isoform 1 preproprotein
NM_139208.3 NP_631947.1 mannan-binding lectin serine protease 2 isoform 2 precursor
NM_006610.4 NP_006601.2 mannan-binding lectin serine protease 2 isoform 1 preproprotein
NM_139208.3 NP_631947.1 mannan-binding lectin serine protease 2 isoform 2 precursor
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
12421953 GOA
enables complement component C4b binding IDA
IDA: 通过直接分析推断
22949645 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
11290788 GOA
enables peptidase activity IDA
IDA: 通过直接分析推断
10946292 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10946292 GOA
enables serine-type endopeptidase activity IDA
IDA: 通过直接分析推断
9087411 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in complement activation, lectin pathway IDA
IDA: 通过直接分析推断
9087411 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

MASP2 蛋白结构

CUB

CUB: CUB domain (28 - 132)

EGF_CA

EGF_CA: Calcium-binding EGF domain (138 - 180)

CUB

CUB: CUB domain (184 - 293)

Sushi

Sushi: Sushi repeat (SCR repeat) (300 - 361)

Sushi

Sushi: Sushi repeat (SCR repeat) (366 - 422)

Trypsin

Trypsin: Trypsin (445 - 679)

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

mannan-binding lectin serine protease 2

MBL-associated plasma protein of 19 kD

重组 MASP2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78005 MASP2 Protein, Human (His) O00187-1 (G288-F686) ≥95%

关联疾病

疾病名称 别名
Masp2 Deficiency

Immunodeficiency Due To Masp-2 Deficiency

Lcapd2

Lectin Complement Activation Pathway, Defect In, 2

MASPD

Defect In Lectin Complement Activation Pathway, 2

Sporotrichosis

Rose Gardener'S Disease

Rheumatic Fever

Acute Rheumatic Fever

Rhf - Rheumatic Fever

Inflammatory Rheumatism

Active Rheumatic Fever Nos

Acute Active Rheumatic Fever

Subacute Active Rheumatic Fever

Subacute Rheumatic Fever

Active Rheumatic Fever With Unspecified Type Of Heart Involvement

Acute Rheumatic Heart Disease

Active Rheumatic Heart Disease

Acute Organic Rhd - [Rheumatic Heart Disease]

Acute Rhd - [Rheumatic Heart Disease]

Hereditary Angioedema

Hereditary Angioneurotic Edema

Hereditary Angioedema Type 1

Hane

Angioedema, Hereditary

Hae

Angioedemas, Hereditary

Deficiency Of C1 Esterase Inhibitor

C1 Esterase Inhibitor Deficiency

C1 Inhibitor Deficiency

Familial Angioneurotic Edema

Hereditary Bradykinine-Induced Angioedema

Hereditary Non Histamine-Induced Angioedema

Hae 1

Hae-I

Hereditary Angioneurotic Edema Type 1

Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

Hereditary Angioedema Types I And Ii

Hereditary Angioneurotic Oedema

Familial Angioedema

Hae - [Hereditary Angioneurotic Oedema]

Bannister Disease, Hereditary

Quincke Disease Or Oedema

Hereditary Quincke Oedema

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

Angioedema

Angioneurotic Oedema

Quincke'S Edema

Angioneurotic Edema

Giant Urticaria

Rheumatic Heart Disease

Rheumatic Carditis

Rheumatic Congestive Heart Failure

Congestive Rheumatic Heart Failure

Rheumatic Heart Failure

RHD

Rheumatic Fever Inactive Or Quiescent With Heart Disease

Rheumatic Fever Inactive Or Quiescent With Carditis

Organ Rheumatic Heart Disease

Organic Rheumatic Heart Disease

Inactive Rheumatic Heart Disease

Rheumatic Heart

Rheumatic Fever Inactive Or Quiescent With Pancarditis

Rhd - [Rheumatic Heart Disease]

Rheumatic Cardiac Hypertrophy

Rheumatic Fever

Inactive Or Quiescent With Cardiac Hypertrophy

Rheumatic Pancarditis

Inactive Rhd - [Rheumatic Heart Disease]

Rheumatic Nonischaemic Cardiopathy

Chagas Disease

American Trypanosomiasis

Chagas' Disease

Chagas' Disease With Digestive System Involvement

Chagas' Disease With Nervous System Involvement

Chagas' Disease With Other Organ Involvement

Infection Due To Trypanosoma Cruzi

South American Trypanosomiasis

Chronic Chagas Disease With Digestive System Involvement

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

Immunodeficiency 31b

IMD31B

Immunodeficiency 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Autosomal Recessive Stat1 Deficiency

Predisposition To Severe Viral Infection Due To Stat1 Deficiency

Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency

Stat1 Deficiency, Autosomal Recessive

Autosomal Recessive Immunodeficiency 31b, Mycobacterial And Viral Infections

Stat1 Deficiency

Autosomal Recessive Susceptibility To Mycobacterial And Viral Infections

Mycobacterial And Viral Infections Due To Complete Stat1 Deficiency

Immunodeficiency, Type 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Complement Component 3 Deficiency

C3 Deficiency

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l

CMD1L

Cardiomyopathy, Dilated 1l

Cardiomyopathy, Dilated, Type 1l

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

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 MASP2 VGNC VGNC:43031
Bos taurus MASP2 VGNC VGNC:31256
Felis catus MASP2 VGNC VGNC:68191
Macaca mulatta MASP2 VGNC VGNC:82181
Rattus norvegicus MASP2 RGD RGD:620214
Mus musculus MASP2 MGD MGI:1330832
Macaca fascicularis MASP2 NCBI NCBI:102131322
Others MASP2 NCBI