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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
- Mannan Binding Lectin Serine Peptidase 2 2 3 5
- 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
- MBL-Associated Serine Protease 2 3 4
- MASP-2 3 4
External Ids for MASP2 Gene
- HGNC: 6902
- Entrez Gene: 10747
- Ensembl: ENSG00000009724
- OMIM: 605102
- UniProtKB: O00187
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
-
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 (Mannan Binding Lectin Serine Peptidase 2) is a Protein Coding gene. Diseases associated with MASP2 include Masp2 Deficiency and Rheumatic Fever. Among its related pathways are Innate Immune System and Complement and coagulation cascades. 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.
Additional gene information for MASP2 Gene
- HGNC(6902)
- Entrez Gene(10747)
- Ensembl(ENSG00000009724)
- OMIM(605102)
- UniProtKB(O00187)
- Open Targets Platform(ENSG00000009724)
- Monarch Initiative
- Search for MASP2 at DataMed
- Search for MASP2 at HumanCyc
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
Promoters and enhancers for MASP2 Gene
- 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
Genomic Locations for MASP2 Gene
- chr1:11,026,523-11,047,239
- (GRCh38/hg38)
- Size:
- 20,717 bases
- Orientation:
- Minus strand
- chr1:11,086,580-11,107,296
- (GRCh37/hg19)
- Size:
- 20,717 bases
- Orientation:
- Minus strand
Genomic View for MASP2 Gene
Genes around MASP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.22 by HGNC
- 1p36.22 by Entrez Gene
- 1p36.22 by Ensembl
MASP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MASP2 Gene
Proteins for MASP2 Gene
-
Protein details for MASP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00187-MASP2_HUMAN
- Recommended name:
- Mannan-binding lectin serine protease 2
- Protein Accession:
- O00187
- 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
Protein Expression for MASP2 Gene
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:
Antibody Products
- G Biosciences Immunotag™ MASP2 Antibody
- Novus Biologicals Antibodies for MASP2
-
Abcam antibodies for MASP2
- Invitrogen Antibodies for MASP2 (AFLGC-MASP2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for MASP2
- Sino Biological Antibodies for MASP2
Protein Products
-
OriGene Purified Proteins for MASP2
- Search Origene for MassSpec and Protein Over-expression Lysates for MASP2
- Origene Custom Protein Services for MASP2
-
Signalway Proteins for MASP2
-
Abcam proteins for MASP2
Assay Products
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
- ProtoNet:
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- Family:
-
- Belongs to the peptidase S1 family.
Function for MASP2 Gene
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
| 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 |
Phenotypes for MASP2 Gene
- MGI mutant phenotypes for MASP2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MASP2:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Decreased homologous recombination repair frequency
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased caspase activity
- Increased cilium length after serum starvation
Animal Models for MASP2 Gene
- MGI Knock Outs for MASP2:
-
- Masp2 Masp2<tm1Wjsc>
Animal Model Products
-
Taconic Biosciences Mouse Models for MASP2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MASP2 - Select products 50% OFF >
- * MASP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MASP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MASP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MASP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MASP2
- Browse OriGene Inhibitory RNA Products For MASP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MASP2
Clone Products
- Applied Biological Materials (abm): Clones for MASP2 - Select products 50% OFF >
- * MASP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210030
- MG224675
- MR210030
- MR210030L3
- MR210030L4
- MR224675
- MR224675L3
- MR224675L4
- RC216665
- RC216665L1
- RC216665L2
- RC216665L3
- RC216665L4
- RC218844
- RC218844L3
- RC218844L4
- RG216665
- RG218844
- RR213700
- RR213700L3
- RR213700L4
- MR210030L3V
- MR210030L4V
- MR224675L3V
- MR224675L4V
- RC216665L1V
- RC216665L2V
- RC216665L3V
- RC216665L4V
- RC218844L3V
- RC218844L4V
- RR213700L3V
- RR213700L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MASP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MASP2
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Golgi apparatus (3)
| 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 |
Pathways & Interactions for MASP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Creation of C4 and C2 activators | ||
| 2 | Complement Pathway |
Complement Pathway
.62
|
Lectin Induced Complement Pathway
.01
|
| 3 | Complement and coagulation cascades | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | Staphylococcus aureus infection | ||
Pathways by source for MASP2 Gene
2 BioSystems pathways for MASP2 Gene
7 Reactome pathways for MASP2 Gene
2 KEGG 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
Interacting Proteins for MASP2 Gene
GPS-Prot Interaction Network for MASP2
| 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 | -- |
No data available for SIGNOR curated interactions for MASP2 Gene
Transcripts for MASP2 Gene
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 :
-
- ENST00000400897 2455 nts (view in UCSC)
- ENST00000400898 726 nts (view in UCSC)
- ENST00000478645 443 nts (view in UCSC)
- ENST00000480221 2190 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MASP2 - Select products 50% OFF >
- * MASP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MASP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MASP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MASP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MASP2
- Browse OriGene Inhibitory RNA Products For MASP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MASP2
Clone Products
- Applied Biological Materials (abm): Clones for MASP2 - Select products 50% OFF >
- * MASP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210030
- MG224675
- MR210030
- MR210030L3
- MR210030L4
- MR224675
- MR224675L3
- MR224675L4
- RC216665
- RC216665L1
- RC216665L2
- RC216665L3
- RC216665L4
- RC218844
- RC218844L3
- RC218844L4
- RG216665
- RG218844
- RR213700
- RR213700L3
- RR213700L4
- MR210030L3V
- MR210030L4V
- MR224675L3V
- MR224675L4V
- RC216665L1V
- RC216665L2V
- RC216665L3V
- RC216665L4V
- RC218844L3V
- RC218844L4V
- RR213700L3V
- RR213700L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MASP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MASP2
| 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
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MASP2
SOURCE GeneReport for Unigene cluster for MASP2 Gene:
Hs.655645mRNA Expression by UniProt/SwissProt for MASP2 Gene:
O00187-MASP2_HUMAN
Tissue specificity:
Plasma.
Evidence on tissue expression from TISSUES for MASP2 Gene
- Liver(4.7)
- Urine(4.3)
- Blood(2.5)
- Nervous system(2.3)
- Heart(2.3)
- Kidney(2.3)
- Muscle(2.1)
- Skin(2)
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
Primer Products
-
OriGene qPCR primer pairs for MASP2
-
OriGene qPCR primer pairs and template standards for MASP2
Gene Expression Assay Products
Orthologs for MASP2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MASP2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MASP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Masp2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Masp2 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | MASP2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MASP2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MASP2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MASP2 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | masp2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | masp2 30 31 |
|
OneToOne | |
| Dr.17391 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| CSA.10613 31 |
|
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
Paralogs for MASP2 Gene
Variants for MASP2 Gene
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 |
|---|---|---|---|---|---|
| 708053 | Benign: not provided | 11,046,598(-) | C/T | MISSENSE_VARIANT | |
| 716795 | Benign: not provided | 11,047,087(-) | G/A | MISSENSE_VARIANT | |
| 729733 | Benign: MASP2 deficiency; not provided | 11,042,883(-) | G/A | MISSENSE_VARIANT | |
| 786449 | Benign: MASP2 deficiency; not provided | 11,047,092(-) | A/G | SYNONYMOUS_VARIANT | |
| 873851 | Uncertain Significance: MASP2 deficiency; Amyotrophic lateral sclerosis type 10 | 11,024,777(-) | T/C | THREE_PRIME_UTR_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MASP2 Gene
Disorders for MASP2 Gene
(15) MalaCards diseases for MASP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| masp2 deficiency |
|
|
| rheumatic fever |
|
|
| mannose-binding lectin deficiency |
|
|
| sporotrichosis |
|
|
| hereditary angioedema |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for MASP2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MASP2 Gene
Publications for MASP2 Gene
- Novel MASP2 variants detected among North African and Sub-Saharan individuals. (PMID: 16029433) Lozano F … Horcajada JP (Tissue antigens 2005) 3 4 23 41
- A second serine protease associated with mannan-binding lectin that activates complement. (PMID: 9087411) Thiel S … Jensenius JC (Nature 1997) 2 3 4 23
- Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome. (PMID: 20042521) Smithson A … Nicolas JM (Clinical and vaccine immunology : CVI 2010) 3 23 41
- 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 23 41
- Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection. (PMID: 19405982) Wang Y … Cao C (BMC infectious diseases 2009) 3 23 41
ExternalLinks
Products for MASP2 Gene
- Custom Antibody ServicesOriGene Antibodies for MASP2
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- antibodies-online: Show 24 available MASP2 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for MASP2
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