Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10747
Gene name	MBL associated serine protease 2
Gene symbol	MASP2
Synonyms (NCBI Gene)	MAP-2MAP19MASP-2MASP1P1sMAP
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

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

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miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
605102	6902	ENSG00000009724

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

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19		Lectin pathway of complement activation Initial triggering of complement Ficolins bind to repetitive carbohydrate structures on the target cell surface

101

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency due to MASP-2 deficiency	Likely pathogenic	rs368040764	RCV002266623

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
MASP2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs72550870, rs151221694, rs141145402, rs61735600, rs72550866, rs534547943, rs754681880, rs766503914, rs748118548, rs570098833, rs150524896, rs763183867, rs201175329, rs141174563, rs192007831, rs72550893, rs139962539, rs2273343 View all (3 more)	RCV003974799 RCV004754944 RCV004754377 RCV003977818 RCV003419188 RCV003414538 RCV003931366 RCV003909273 RCV003921639 RCV003934725 RCV003944736 RCV003976827 RCV003968974 RCV004755037 RCV004754600 RCV003930751 RCV003923039 RCV003928696

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32998690
Angioedemas Hereditary	Associate	18250972, 18460017
Arthritis Rheumatoid	Associate	24632598, 33673283
Atrial Fibrillation	Associate	32389013
Autoimmune Diseases	Associate	31383674
Autoimmune Diseases of the Nervous System	Associate	30286468
Bacteremia	Associate	30294330
Bacterial Infections	Associate	31828694
Blood Coagulation Disorders	Associate	36991043
Brain Injuries	Associate	33584662
Carcinoma Renal Cell	Associate	23683669
Cardiomyopathies	Associate	24454898
Colorectal Neoplasms	Associate	21198752, 26474385
COVID 19	Associate	33584662, 37204457
Disseminated Intravascular Coagulation	Associate	33584662
Encephalitis Herpes Simplex	Associate	31828694
Fatigue Syndrome Chronic	Associate	19015737
Glomerulonephritis IGA	Associate	37065697
Graft vs Host Disease	Associate	16982337
Hepatitis B	Associate	33643280
HTLV I Infections	Associate	35924689
Infections	Associate	24632598
Inflammation	Associate	19015737, 24632598
Intra Articular Fractures	Associate	24632598
Invasive Fungal Infections	Associate	16982337
Leprosy	Associate	23935922
Leprosy Lepromatous	Associate	23935922
Lung Diseases	Associate	31828694
Lupus Erythematosus Systemic	Associate	32677764
Lupus Erythematosus Systemic	Stimulate	32677764
Lymphoma	Associate	30294330
Lymphoma Large B Cell Diffuse	Associate	23055202
Lymphoma Non Hodgkin	Associate	23055202
Mannose Binding Protein Deficiency	Associate	16982337, 24632598
Multiple Sclerosis	Associate	21911261
Myasthenia Gravis	Associate	35802752
Myocardial Infarction	Stimulate	32389013
Neoplasms	Associate	17131120, 25038892
Neoplasms	Inhibit	37644036
Nephrolithiasis Calcium Oxalate	Associate	31694344
Ovarian Neoplasms	Associate	25038892
Pneumonia	Associate	21198752
Primary Immunodeficiency Diseases	Associate	31828694
Prostatic Neoplasms	Inhibit	37644036
Rheumatic Diseases	Associate	32677764
Sjogren's Syndrome	Associate	24632598
Thrombosis	Associate	35861070
Thymoma	Associate	35802752, 36991043
Tuberculosis	Associate	31383674
Venous Thromboembolism	Associate	35861070
Venous Thrombosis	Associate	35861070

MASP2 (MBL associated serine protease 2)