MBL associated serine protease 2

Summary
Gene Symbol
  • MASP2
Aliases
  • MAP-2
  • Map19
  • mannose-binding lectin associated protein 19
  • mannose-binding lectin-associated serine protease 2
  • sMAP
Organism
Homo sapiens (human)
External Links
NCBI Gene
10747
HGNC
6902
KEGG Gene ID
hsa:10747
PubChem
10747
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Autocatalytic cleavage
  • Calcium
  • Complement pathway
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Hydroxylation
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Serine protease
  • Signal
  • Sushi
Proteins
Displaying all 2 entries
UniProt Protein Name
O00187
  • MBL-associated serine protease 2
  • Mannose-binding protein-associated serine protease 2
A0A8V8TQY3
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K03993
Name
mannan-binding lectin serine protease 2 [EC:3.4.21.104]
References
Disease
Disease Ontology
Displaying entries 101 - 109 of 109 in total
DO ID Disease Name Source
DOID:8991 cervix uteri carcinoma in situ
DOID:9074 systemic lupus erythematosus
DOID:9088 parapsoriasis
DOID:9255 frontotemporal dementia
DOID:9256 colorectal cancer
DOID:934 viral infectious disease
DOID:9351 diabetes mellitus
DOID:9352 type 2 diabetes mellitus
DOID:9744 type 1 diabetes mellitus
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0002725 Systemic lupus erythematosus
HP:0004431 Complement deficiency
HP:0004431 Reduced circulating complement concentration
HP:0006532 Recurrent pneumonia
HP:0100279 Ulcerative colitis
Displaying 1 entry
Disease ID Disease Name
OMIM:613791
  • immunodeficiency due to MASP-2 deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024