MASP2 (MBL associated serine protease 2)

Gene

• Entrez ID: 10747
• Gene name: MBL associated serine protease 2
• Gene symbol: MASP2
• Synonyms (NCBI Gene): MAP-2, MAP19, MASP-2, MASP1P1, sMAP
• Chromosome: 1
• Chromosome location: 1p36.22
• 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 an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72550870	T>C	Benign, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1133017	hsa-miR-1272	CLIP-seq
MIRT2453762	hsa-miR-299-5p	CLIP-seq
MIRT2453763	hsa-miR-3127-3p	CLIP-seq
MIRT2453764	hsa-miR-4506	CLIP-seq
MIRT2453765	hsa-miR-4639-3p	CLIP-seq
MIRT2453766	hsa-miR-4780	CLIP-seq
MIRT2453767	hsa-miR-555	CLIP-seq
MIRT2453768	hsa-miR-627	CLIP-seq
MIRT2453769	hsa-miR-668	CLIP-seq
MIRT2567607	hsa-miR-4511	CLIP-seq
MIRT2567608	hsa-miR-548ac	CLIP-seq
MIRT2567609	hsa-miR-548ae	CLIP-seq
MIRT2567610	hsa-miR-548aj	CLIP-seq
MIRT2567611	hsa-miR-548am	CLIP-seq
MIRT2567612	hsa-miR-548b-3p	CLIP-seq
MIRT2567613	hsa-miR-548d-3p	CLIP-seq
MIRT2567614	hsa-miR-548x	CLIP-seq
MIRT2567615	hsa-miR-548z	CLIP-seq
MIRT2567607	hsa-miR-4511	CLIP-seq
MIRT2567608	hsa-miR-548ac	CLIP-seq
MIRT2567609	hsa-miR-548ae	CLIP-seq
MIRT2567610	hsa-miR-548aj	CLIP-seq
MIRT2567611	hsa-miR-548am	CLIP-seq
MIRT2567612	hsa-miR-548b-3p	CLIP-seq
MIRT2567613	hsa-miR-548d-3p	CLIP-seq
MIRT2567614	hsa-miR-548x	CLIP-seq
MIRT2567615	hsa-miR-548z	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001855	Function	Complement component C4b binding	IDA	22949645
GO:0001867	Process	Complement activation, lectin pathway	IBA
GO:0001867	Process	Complement activation, lectin pathway	IDA	18204047, 22691502
GO:0001867	Process	Complement activation, lectin pathway	IDA	9087411, 11527969, 17182967, 22511776, 22691502, 22949645, 22966085, 23386610
GO:0001867	Process	Complement activation, lectin pathway	IEA
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	9087411, 11527969, 22691502, 22949645, 22966085, 23386610
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10946292, 11290788, 11907111, 15117939, 18177377, 22071314, 22607836, 23785123, 24174618, 25359215, 27104295, 28742139
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0008233	Function	Peptidase activity	IDA	10946292, 12538697
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031638	Process	Zymogen activation	IDA	22691502
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0042802	Function	Identical protein binding	IPI	11290788, 15117939
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	12421953
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047
GO:0051604	Process	Protein maturation	IDA	22691502
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0106139	Component	Symbiont cell surface	IDA	22966085

Other IDs

• MIM: 605102
• HGNC: 6902
• e!Ensembl: ENSG00000009724

Protein

• UniProt ID: O00187
• Protein name: Mannan-binding lectin serine protease 2 (EC 3.4.21.104) (MBL-associated serine protease 2) (Mannose-binding protein-associated serine protease 2) (MASP-2) [Cleaved into: Mannan-binding lectin serine protease 2 A chain; Mannan-binding lectin serine proteas
• Protein function: Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertas
• PDB: 1Q3X, 1SZB, 1ZJK, 3TVJ, 5JPM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00431	CUB	24 → 134	CUB domain	Domain
  PF07645	EGF_CA	138 → 180	Calcium-binding EGF domain	Domain
  PF00431	CUB	184 → 293	CUB domain	Domain
  PF00084	Sushi	300 → 361	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	366 → 430	Sushi repeat (SCR repeat)	Domain
  PF00089	Trypsin	445 → 679	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLY
  FTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSD
  YSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHLGGFYCSCRAGYVLHRNKRTC
  SALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVILDFVESFDVETHPETL
  CPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPC
  PYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPA
  CSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTS
  SKGEKSLPVCEPVCGLSARTTGGRIYGGQKAKPGDFPWQVLILGGTTAAGALLYDNWVLT
  AAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTHDAGFDNDIALIKLNN
  KVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTA
  AYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNC
  GEAGQYGVYTKVINYIPWIENIISDF

• Sequence length: 686

Pathways

KEGG:

Complement and coagulation cascades
Staphylococcus aureus infection
Coronavirus disease - COVID-19

Reactome:

Lectin pathway of complement activation
Initial triggering of complement
Ficolins bind to repetitive carbohydrate structures on the target cell surface

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Immunodeficiency due to MASP-2 deficiency	Likely pathogenic	rs368040764	RCV002266623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2 DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Angioedemas Hereditary	Angioedema	Pubtator	18250972, 18460017	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	16026838		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24632598, 33673283	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31383674, 31828694		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31383674	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	30286468	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36991043	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	33584662	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31822503		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23683669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17131120		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21489885, 24454898		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24454898	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30532757		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30532757		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30532757		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21198752		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18638656		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21198752, 26474385	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	24658431		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	17303612		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15654829		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	17045845		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28318015		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28318015		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28303635		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31338070		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23055202		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	33584662	Associate	★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	CTD_human_DG	12904520		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	31645047		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	19015737	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	17614162		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37065697	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	16982337	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	16982337		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33643280	Associate	★☆☆☆☆ Found in Text Mining only
Immune Complex Diseases	Immune Complex Diseases	CTD_human_DG	12904520		★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to MASP-2 deficiency	Immunodeficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Ischemic Stroke	BEFREE	28720568		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31608060		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	23935922		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	23935922	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	23935922	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18221301		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31828694	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32677764	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32677764	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30294330	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	23055202		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23055202		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28462915		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17131120		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17131120, 28504652		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30532757		★☆☆☆☆ Found in Text Mining only
Mannose-Binding Protein Deficiency	Mannose-Binding Protein Deficiency	BEFREE	21974696		★☆☆☆☆ Found in Text Mining only
MASP2 Deficiency	MASP2 Deficiency	ORPHANET_DG	12904520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2 Deficiency	MASP2 Deficiency	CLINVAR_DG	12904520, 15086395, 17137870, 19234189, 24332888, 24658431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2 Deficiency	MASP2 Deficiency	UNIPROT_DG	12904520, 17252003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2 Deficiency	MASP2 Deficiency	GENOMICS_ENGLAND_DG	24658431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2 Deficiency	MASP2 Deficiency	BEFREE	31828694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP2 Deficiency	MASP2 Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17113160		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21911261	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28504652		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	31694344	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17131120		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25038892	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37644036	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15948998		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	18295674, 25318078		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24632598		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26850322, 29807983		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	19405982		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24632598	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16395704		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29425056		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	35861070	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	12904520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	35861070	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	35861070	Associate	★☆☆☆☆ Found in Text Mining only