MASP2 - MBL associated serine protease 2 Gene

Also Known as sMAP; MAP-2; MAP19; MASP-2; MASP1P1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10747

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables calcium-dependent protein binding	IPI IPI: Inferred from physical interaction	12421953	GOA
enables complement component C4b binding	IDA IDA: Inferred from direct assay	22949645	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	11290788	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	10946292	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10946292	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	9087411	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in complement activation, lectin pathway	IDA IDA: Inferred from direct assay	9087411	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MASP2 Protein Structure

CUB

EGF_CA

CUB

Sushi

Trypsin

0
200
400
600
686 a.a.

Protein Preferred Names	Protein Names
mannan-binding lectin serine protease 2	MBL-associated plasma protein of 19 kD

MASP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MASP2	O00187	SERPING1	Homo sapiens	P05155	Protease Assay	25359215
Intra	MASP2	O00187	COLEC11	Homo sapiens	Q9BWP8	SPR	24174618
Intra	MASP2	O00187	MBL2	Homo sapiens	P11226	Solid Phase Assay	27104295

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MASP2 Proteins

Cat. No.	상품명	Accession	Purity
HY-P78005	MASP2 Protein, Human (His)	O00187-1 (G288-F686)	≥ 95%, as determined by Bis-Tris PAGE.

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Inhibitory Antibodies (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-P99376	Narsoplimab	Inhibitor	≥99.0%	Unkown

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	상품명	효과	Purity	Phase
HY-P991312	CM-338	Inhibitor	97.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-P0227	SHU 9119		99.83%	Unkown
HY-P1208	PG-931	Agonist	99.60%	Unkown
HY-172090	MASP-2-IN-1	Inhibitor	/	Unkown
HY-E70390	C1s Enzyme	Antagonist	/	Unkown
HY-RS08160	MASP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17231	Masp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23684	Masp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-P992463	SHR-2010	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	MASP2	NCBI