• Gene id: 10747

Gene Summary

• Gene Symbol: MASP2   Gene   UCSC   Ensembl
• Aliases: MAP19, MASP-2, MASP1P1, sMAP
• Gene name: mannan binding lectin serine peptidase 2
• Alternate names: mannan-binding lectin serine protease 2, MBL-associated plasma protein of 19 kD, MBL-associated serine protease 2, mannan-binding lectin serine peptidase 1 pseudogene 1, mannan-binding lectin serine protease 1 pseudogene 1, mannose-binding protein-associated s,
• Gene location: 1p36.22 (11047238: 11026522)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 604884

Protein Summary

• Protein general information: O00187  
  • 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
  • Length: 686  
  • Mass: 75702
  • Tissue specificity: Plasma.
• Sequence:

  MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQERRWTLTAPPGYRLRLYFTHFDLELSHLCEYD
  FVKLSSGAKVLATLCGQESTDTERAPGKDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAP
  TCDHHCHNHLGGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLEEGFSVIL
  DFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTITFVTDESGDHTGWKIHYTSTAQPC
  PYPMAPPNGHVSPVQAKYILKDSFSIFCETGYELLQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSG
  RVEYITGPGVTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQK
  AKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPHYTQAWSEAVFIHEGYTH
  DAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDDIGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTA
  AYEKPPYPRGSVTANMLCAGLESGGKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINY
  IPWIENIISDF

• Structural information:
  • Protein Domains: (16..13-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (138..18-)
    (/note="EGF-lik-)
    (-)
    (184..29-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (298..36-)
    (/note="Sushi-1)
    (-)
  • Interpro: IPR000859  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR037571  IPR009003  IPR001314  IPR035914  IPR035976  IPR000436  IPR001254  IPR033116  
  • Prosite: PS00010 PS01180 PS01186 PS01187 PS50923 PS50240 PS00135
  • CDD: cd00033 cd00041 cd00190
  • PDB: 1Q3X 1SZB 1ZJK 3TVJ 4FXG 5JPM
  • PDBsum: 1Q3X 1SZB 1ZJK 3TVJ 4FXG 5JPM
  • STRING: ENSP00000383690
• Other Databases: GeneCards:  MASP2  Malacards:  MASP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001867	complement activation, lectin pathway	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0001867	complement activation, lectin pathway	IDA	biological process
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001867	complement activation, lectin pathway	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0001867	complement activation, lectin pathway	TAS	biological process
GO:0001867	complement activation, lectin pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0001855	complement component C4b binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IDA	molecular function
GO:0001867	complement activation, lectin pathway	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Mannose-binding lectin pathway component defects	KEGG:H00105
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq