MASP2 Gene (Protein Coding)

MBL Associated Serine Protease 2

GC01M011026
GIFtS:
47
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 rol... See more...

Aliases for MASP2 Gene

Aliases for MASP2 Gene

  • MBL Associated Serine Protease 2 2 3
  • Mannan-Binding Lectin Serine Protease 2 2 3 4
  • Mannan-Binding Lectin Serine Peptidase 1 Pseudogene 1 2 3
  • Mannan-Binding Lectin Serine Protease 1 Pseudogene 1 2 3
  • Mannose-Binding Protein-Associated Serine Protease 2 3 4
  • Mannose-Binding Lectin-Associated Serine Protease 2 2 3
  • Mannose-Binding Lectin Associated Protein 19 2 3
  • Mannan Binding Lectin Serine Peptidase 2 3 5
  • MASP-2 3 4
  • MBL-Associated Plasma Protein Of 19 KD 3
  • MBL-Associated Serine Protease 2 4
  • Small MBL-Associated Protein 3
  • EC 3.4.21.104 4
  • EC 3.4.21 50
  • MASP1P1 3
  • MAP19 3
  • MASP2 5
  • MAp19 2
  • SMAP 3

External Ids for MASP2 Gene

Previous HGNC Symbols for MASP2 Gene

  • MASP1P1

Previous GeneCards Identifiers for MASP2 Gene

  • GC01M011047
  • GC01M010930
  • GC01M010695
  • GC01M010796
  • GC01M011020
  • GC01M011009
  • GC01M011086
  • GC01M010238

Summaries for MASP2 Gene

Entrez Gene Summary for MASP2 Gene

  • 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]

GeneCards Summary for MASP2 Gene

MASP2 (MBL Associated Serine Protease 2) is a Protein Coding gene. Diseases associated with MASP2 include Masp2 Deficiency and Sporotrichosis. Among its related pathways are Complement and coagulation cascades and Creation of C4 and C2 activators. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is MASP1.

UniProtKB/Swiss-Prot Summary for MASP2 Gene

  • 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 convertase.

Gene Wiki entry for MASP2 Gene

Additional gene information for MASP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MASP2 Gene

Genomics for MASP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MASP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J011047 Promoter 1 EPDnew 250.7 0.0 -20 0.1 YY1 KMT2B THAP11 KDM6A FOXA2 SMAD4 RXRA ZNF511 SAP130 ZBTB33 MASP2 HSALNG0000841 SRM
GH01J011045 Enhancer 0.9 Ensembl ENCODE 250.7 +1.0 1044 1.5 ATF3 NFIC YY1 KMT2B SP2 RXRA ZNF511 SAP130 RARA DMAP1 MASP2 ANGPTL7 ENSG00000226849 HSALNG0000840 TARDBP
GH01J011011 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10 +34.2 34150 3.4 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 SIX5 JUND ZNF580 ZNF592 TARDBP HSALNG0000833 HSALNG0000834 piR-48221-001 EXOSC10 ENSG00000226849 CLCN6 DFFA MASP2 ANGPTL7
GH01J010968 Promoter/Enhancer 1.1 Ensembl ENCODE 5.9 +78.7 78710 1 ZIC2 BCL11A IRF4 EBF1 CBFB MAX SMARCA5 BHLHE40 BATF SCRT1 MASP2 FJ601684-005 C1orf127 CASZ1
GH01J011280 Enhancer 1 Ensembl ENCODE 4.7 -236.7 -236661 8.6 ZNF654 POLR2A ZNF10 FEZF1 CTCF SIN3A MAFF RAD21 TAL1 ZNF316 MTOR ANGPTL7 MTOR-AS1 EXOSC10 MASP2 UBE2V2P3 lnc-MTOR-5 piR-40706 UBIAD1 DISP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MASP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MASP2

Top Transcription factor binding sites by QIAGEN in the MASP2 gene promoter:
  • c-Myc
  • Max
  • Max1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MASP2 Gene

Latest Assembly
chr1:11,026,523-11,047,239
(GRCh38/hg38)
Size:
20,717 bases
Orientation:
Minus strand

Previous Assembly
chr1:11,086,580-11,107,296
(GRCh37/hg19 by Entrez Gene)
Size:
20,717 bases
Orientation:
Minus strand

chr1:11,086,580-11,107,290
(GRCh37/hg19 by Ensembl)
Size:
20,711 bases
Orientation:
Minus strand

Genomic View for MASP2 Gene

Genes around MASP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MASP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MASP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MASP2 Gene

Proteins for MASP2 Gene

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  • Protein details for MASP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00187-MASP2_HUMAN
    Recommended name:
    Mannan-binding lectin serine protease 2
    Protein Accession:
    O00187
    Secondary Accessions:
    • A8K458
    • A8MWJ2
    • O75754
    • Q5TEQ5
    • Q5TER0
    • Q96QG4
    • Q9BZH0
    • Q9H498
    • Q9H499
    • Q9UBP3
    • Q9UC48
    • Q9ULC7
    • Q9UMV3
    • Q9Y270

    Protein attributes for MASP2 Gene

    Size:
    686 amino acids
    Molecular mass:
    75702 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Binds MBL2. Isoform 2 binds to MASP1. Binds SERPING1. Dimerization and MBL2 binding requires calcium ions.

    Three dimensional structures from OCA and Proteopedia for MASP2 Gene

    Alternative splice isoforms for MASP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MASP2 Gene

Protein Expression for MASP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MASP2 Gene

O00187:
  • GIVSWGS
  • WVLTAAH
  • DIALIKL

Post-translational modifications for MASP2 Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has sufficient activity to effect autocatalytic cleavage.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MASP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MASP2 Gene

Gene Families for MASP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for MASP2 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • CUB domain
  • EGF-like calcium-binding
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for MASP2 Gene

GenScript: Design optimal peptide antigens:
  • Mannose-binding protein-associated serine protease 2 (MASP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00187

UniProtKB/Swiss-Prot:

MASP2_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with MASP2: view

Function for MASP2 Gene

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  6. Cell Lines for research

Molecular function for MASP2 Gene

UniProtKB/Swiss-Prot 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 convertase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage after Arg-223 in complement component C2 (-Ser-Leu-Gly-Arg-|-Lys-Ile-Gln-Ile) and after Arg-76 in complement component C4 (-Gly-Leu-Gln-Arg-|-Ala-Leu-Glu-Ile).; EC=3.4.21.104;.
GENATLAS Biochemistry:
mannan-binding lectin serine protease 2,including an alternatively spliced (truncated) isoform of 19kDa (Map19),also included in the complex formed with MBL2 and MASP1 to form the antibody independent activator of the classical pathway of complement

Enzyme Numbers (IUBMB) for MASP2 Gene

Phenotypes From GWAS Catalog for MASP2 Gene

Gene Ontology (GO) - Molecular Function for MASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001855 complement component C4b binding IDA 22949645
GO:0004252 serine-type endopeptidase activity IBA,IDA 9087411
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10946292
GO:0008233 peptidase activity IEA,IDA 10946292
genes like me logo Genes that share ontologies with MASP2: view
genes like me logo Genes that share phenotypes with MASP2: view

Human Phenotype Ontology for MASP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MASP2 Gene

MGI Knock Outs for MASP2:

Animal Models for research

  • Taconic Biosciences Mouse Models for MASP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MASP2

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for MASP2 Gene

Localization for MASP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MASP2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MASP2 gene
Compartment Confidence
extracellular 5
nucleus 3
golgi apparatus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with MASP2: view

Pathways & Interactions for MASP2 Gene

genes like me logo Genes that share pathways with MASP2: view

Pathways by source for MASP2 Gene

2 BioSystems pathways for MASP2 Gene
1 GeneGo (Thomson Reuters) pathway for MASP2 Gene
  • Immune response Lectin induced complement pathway
2 Qiagen pathways for MASP2 Gene
  • Complement Pathway
  • Lectin Induced Complement Pathway

SIGNOR curated interactions for MASP2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway IEA --
genes like me logo Genes that share ontologies with MASP2: view

Drugs & Compounds for MASP2 Gene

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(5) Drugs for MASP2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
beta-Hydroxyasparagine Experimental Pharma Target 0
Calcium Nutra 6959

(3) Additional Compounds for MASP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MASP2: view

Transcripts for MASP2 Gene

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mRNA/cDNA for MASP2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MASP2

Alternative Splicing Database (ASD) splice patterns (SP) for MASP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for MASP2 Gene

GeneLoc Exon Structure for
MASP2

Expression for MASP2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MASP2 Gene

mRNA expression in normal human tissues for MASP2 Gene
mRNA expression by GTEx for MASP2 GenemRNA expression by BioGPS for MASP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for MASP2 Gene

This gene is overexpressed in Liver (x29.7).

Protein differential expression in normal tissues from HIPED for MASP2 Gene

This gene is overexpressed in Urine (61.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MASP2 Gene



Protein tissue co-expression partners for MASP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MASP2

SOURCE GeneReport for Unigene cluster for MASP2 Gene:

Hs.655645

mRNA Expression by UniProt/SwissProt for MASP2 Gene:

O00187-MASP2_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for MASP2 Gene

  • Liver(4.6)
  • Urine(4.3)
  • Blood(2.3)
  • Heart(2.2)
  • Nervous system(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MASP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • mouth
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with MASP2: view

Orthologs for MASP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MASP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MASP2 29 30
  • 99.27 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MASP2 29 30
  • 85.65 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Masp2 29 16 30
  • 82.96 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Masp2 29
  • 82.59 (n)
Dog
(Canis familiaris)
 Mammalia MASP2 29 30
  • 81.25 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MASP2 30
  • 66 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MASP2 30
  • 64 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MASP2 29 30
  • 63.91 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia masp2 29
  • 57.78 (n)
Zebrafish
(Danio rerio)
 Actinopterygii masp2 29 30
  • 56.89 (n)
 OneToOne
Dr.17391 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 30 (a)
 ManyToMany
-- 30
  • 29 (a)
 ManyToMany
-- 30
  • 29 (a)
 ManyToMany
-- 30
  • 27 (a)
 ManyToMany
CSA.10613 30
  • 23 (a)
 ManyToMany
Species where no ortholog for MASP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MASP2 Gene

ENSEMBL:
Gene Tree for MASP2 (if available)
TreeFam:
Gene Tree for MASP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MASP2: view image
Alliance of Genome Resources:
Additional Orthologs for MASP2

Paralogs for MASP2 Gene

Paralogs for MASP2 Gene

(13) SIMAP similar genes for MASP2 Gene using alignment to 1 proteins:

  • MASP2_HUMAN
genes like me logo Genes that share paralogs with MASP2: view

Variants for MASP2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MASP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1032464 Uncertain Significance: MASP2 deficiency 11,034,837(-) C/T
NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr) 		MISSENSE
1032465 Uncertain Significance: MASP2 deficiency 11,045,449(-) C/T
NM_006610.4(MASP2):c.503G>A (p.Arg168His) 		MISSENSE
1032466 Pathogenic: MASP2 deficiency 11,045,446(-) G/GC
NM_006610.4(MASP2):c.505dup (p.Ala169fs) 		FRAMESHIFT
873851 Uncertain Significance: Amyotrophic lateral sclerosis type 10; MASP2 deficiency 11,024,777(-) T/C
NM_007375.4(TARDBP):c.*2123T>C 		THREE_PRIME_UTR
873902 Uncertain Significance: MASP2 deficiency 11,027,060(-) C/G
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MASP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MASP2 Gene

Variant ID Type Subtype PubMed ID
dgv106n54 CNV loss 21841781
esv25881 CNV gain+loss 19812545
esv2660954 CNV deletion 23128226
esv2743741 CNV deletion 23290073
esv3585212 CNV loss 21293372
nsv1133809 CNV deletion 24896259
nsv545407 CNV gain 21841781
nsv545408 CNV gain 21841781
nsv545411 CNV gain 21841781
nsv832425 CNV loss 17160897
nsv953456 CNV deletion 24416366
nsv956625 CNV deletion 24416366

Variation tolerance for MASP2 Gene

Residual Variation Intolerance Score: 92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.19; 75.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MASP2 Gene

Human Gene Mutation Database (HGMD)
MASP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MASP2
Leiden Open Variation Database (LOVD)
MASP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MASP2 Gene

Disorders for MASP2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for MASP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
masp2 deficiency
  • lectin complement activation pathway, defect in, 2; lcapd2
sporotrichosis
  • rose gardener's disease
rheumatic fever
  • acute rheumatic fever
mannose-binding lectin deficiency
  • mbld
hereditary angioedema
  • hane
- elite association - COSMIC cancer census association via MalaCards
Search MASP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MASP2_HUMAN
  • MASP2 deficiency (MASPD) [MIM:613791]: A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease. {ECO:0000269 PubMed:12904520, ECO:0000269 PubMed:17252003}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MASP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MASP2: view

No data available for Genatlas for MASP2 Gene

Publications for MASP2 Gene

  1. Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. (PMID: 19234189) Thiel S … Jensenius JC (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 22 40 72
  2. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. (PMID: 17252003) Thiel S … Jensenius JC (Genes and immunity 2007) 3 4 22 72
  3. Novel MASP2 variants detected among North African and Sub-Saharan individuals. (PMID: 16029433) Lozano F … Horcajada JP (Tissue antigens 2005) 3 4 22 40
  4. Inherited deficiency of mannan-binding lectin-associated serine protease 2. (PMID: 12904520) Stengaard-Pedersen K … Jensenius JC (The New England journal of medicine 2003) 3 4 22 72
  5. A second serine protease associated with mannan-binding lectin that activates complement. (PMID: 9087411) Thiel S … Jensenius JC (Nature 1997) 2 3 4 22

ExternalLinks

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