Aliases for MASP2 Gene
Aliases for MASP2 Gene
- Mannan Binding Lectin Serine Peptidase 2 2 3 5
- Mannan-Binding Lectin Serine Peptidase 1 Pseudogene 1 2 3
- Mannose-Binding Protein-Associated Serine Protease 2 3 4
- Mannan-Binding Lectin Serine Protease 1 Pseudogene 1 2 3
- Mannan-Binding Lectin Serine Protease 2 2 3
- 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
- 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 Mannose-Binding Lectin Deficiency. Among its related pathways are Creation of C4 and C2 activators 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 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
- Monarch Initiative
- Search for MASP2 at DataMed
- Search for MASP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MASP2 Gene
Genomics for MASP2 Gene
GeneHancer (GH) Regulatory Elements for MASP2 Gene
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 | 1.1 | EPDnew | 650.7 | 0.0 | -20 | 0.1 | FOXA2 ARID4B DMAP1 RARA YY1 THAP11 MIXL1 RXRA REST PPARG | MASP2 SRM | |
| GH01J011045 | Enhancer | 0.7 | ENCODE | 650.7 | +1.0 | 1007 | 1.5 | MEIS2 AHR TFAP4 PKNOX1 SAP130 KDM3A THRB RBPJ RARA YY1 | MASP2 ANGPTL7 ENSG00000226849 GC01P011041 | |
| GH01J011011 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 9.9 | +34.2 | 34150 | 3.4 | HDGF CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 | TARDBP ENSG00000277726 ENSG00000226849 EXOSC10 CLCN6 ENSG00000271895 FBXO44 DFFA MASP2 ANGPTL7 | |
| GH01J010968 | Enhancer | 1 | Ensembl ENCODE | 5.9 | +78.7 | 78710 | 1 | PKNOX1 MXI1 EBF1 BATF ZIC2 IRF4 POLR2A NFATC1 EED SCRT2 | MASP2 C1orf127 HSPE1P24 | |
| GH01J011280 | Enhancer | 0.9 | Ensembl ENCODE | 4.6 | -234.5 | -234465 | 3.2 | HDGF FEZF1 FOSL1 POLR2B ZNF316 POLR2A VEZF1 PRDM10 ETV6 MAFK | MTOR-AS1 EXOSC10 MASP2 UBE2V2P3 UBIAD1 PIR33705 GC01M011183 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MASP2 gene promoter:
-
- Max
- c-Myc
- Max1
- NRSF form 2
- NRSF form 1
Regulatory Element Products
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 Entrez Gene
- 1p36.22 by HGNC
- 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
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
- Novus Biologicals Antibodies for MASP2
-
Abcam antibodies for MASP2
- Invitrogen Antibodies for MASP2 (AFLGC-MASP2)
- GeneTex MASP2 Antibody for MASP2
-
Boster Bio Antibodies for 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
- Search GeneTex for Proteins for MASP2
-
Abcam proteins for MASP2
Assay Products
No data available for DME Specific Peptides for MASP2 Gene
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MASP2 Gene
- GenScript: Design optimal peptide antigens:
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:
- 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).
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001855 | complement component C4b binding | IDA | 22949645 |
| GO:0004252 | serine-type endopeptidase activity | IDA,TAS | -- |
| 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:
-
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased cilium length after serum starvation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased caspase activity
- Decreased homologous recombination repair frequency
- Mildly decreased CFP-tsO45G cell surface transport
Animal Models for MASP2 Gene
- MGI Knock Outs for MASP2:
-
- Masp2 Masp2<tm1Wjsc>
Animal Model Products
-
Taconic Biosciences Mouse Models for MASP2
- Cyagen custom Knockout/knockin (KOKI) mouse models for MASP2
-
CRISPR Products
-
OriGene CRISPR knockouts for MASP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MASP2
- genomics-online: gRNA clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- Applied Biological Materials CRISPR for MASP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MASP2
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MASP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MASP2
- Applied Biological Materials Clones for MASP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MASP2
No data available for Phenotypes From GWAS Catalog , 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 |
| golgi apparatus | 3 |
| nucleus | 2 |
| plasma membrane | 1 |
| lysosome | 1 |
- Golgi apparatus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IBA | -- |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
Pathways & Interactions for MASP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Creation of C4 and C2 activators | ||
| 2 | Complement Pathway | ||
| 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
2 Qiagen pathways for MASP2 Gene
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
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (38) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000400897 2439 bps (uc001aru.4)
- ENST00000478645 443 bps (uc057cfa.1)
- ENST00000480221 2190 bps (uc057cfb.1)
- ENST00000400898 726 bps (uc001arv.4)
Unigene Clusters for MASP2 Gene
- Mannan-binding lectin serine peptidase 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MASP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MASP2
- genomics-online: gRNA clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- Applied Biological Materials CRISPR for MASP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MASP2
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MASP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MASP2
- Applied Biological Materials Clones for MASP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||
| SP6: |
Expression for MASP2 Gene
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
NURSA nuclear receptor signaling pathways regulating expression of MASP2 Gene:
MASP2SOURCE 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(4.6)
- Urine(4.2)
- Blood(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
Primer Products
-
OriGene qPCR primer pairs for MASP2
-
OriGene qPCR primer pairs and template standards for MASP2
- genomics-online: primer clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MASP2 Gene
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MASP2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Masp2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Masp2 33 |
|
||
| dog (Canis familiaris) |
Mammalia | MASP2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MASP2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MASP2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MASP2 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | masp2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | masp2 34 33 |
|
OneToOne | |
| Dr.17391 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| CSA.10613 34 |
|
ManyToMany |
- Species where no ortholog for MASP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
(13) SIMAP similar genes for MASP2 Gene using alignment to 1 proteins:
- MASP2_HUMAN
Variants for MASP2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1033638 | benign, Amyotrophic Lateral Sclerosis, Dominant, MASP2 deficiency, Frontotemporal dementia | 11,026,660(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs115750484 | likely-benign, Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant | 11,026,701(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs116311214 | uncertain-significance, MASP2 deficiency | 11,026,696(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs12085877 | likely-benign, MASP2 deficiency | 11,027,630(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs12142107 | benign, MASP2 deficiency | 11,037,810(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_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
(8) MalaCards diseases for MASP2 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| masp2 deficiency |
|
|
| mannose-binding lectin deficiency |
|
|
| rheumatic fever |
|
|
| c1 inhibitor deficiency |
|
|
| rheumatic heart disease |
|
|
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
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 22 44 58
- A second serine protease associated with mannan-binding lectin that activates complement. (PMID: 9087411) Thiel S … Jensenius JC (Nature 1997) 2 3 4 22 58
- 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 22 44 58
- Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection. (PMID: 19405982) Wang Y … Cao C (BMC infectious diseases 2009) 3 22 44 58
- Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children. (PMID: 19775369) Vallès X … Lozano F (Tissue antigens 2009) 3 22 44 58
Products for MASP2 Gene
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for MASP2
- Browse OriGene Inhibitory RNA Products For MASP2
- OriGene qPCR primer pairs for MASP2
- OriGene qPCR primer pairs and template standards for MASP2
- OriGene CRISPR knockouts for MASP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MASP2
- GenScript: Next-day shipping of latest version cDNA ORF clones for MASP2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MASP2
- GenScript Custom Assay Services for MASP2
- GenScript Custom overexpressing Cell Line Services for MASP2
- GenScript: Design CRISPR guide RNA sequences for MASP2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MASP2
- Sino Biological Human cDNA Clone for MASP2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for MASP2
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MASP2
- Novus Biologicals proteins and lysates for MASP2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MASP2
- Abcam proteins for MASP2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for MASP2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MASP2 (AFLGC-MASP2)
- Cyagen custom Knockout/knockin (KOKI) mouse models for MASP2
- antibodies-online: Search results for 60 available MASP2 Antibodies ranked by validation data
- Compare Top MASP2 Antibodies
- antibodies-online: Search results for 16 available MASP2 Elisa Kits ranked by validation data
- Compare Top MASP2 Elisa Kits
- antibodies-online: Search results for 11 available MASP2 Proteins ranked by validation data
- Compare Top MASP2 Proteins
- GeneTex MASP2 Antibody for MASP2
- Search GeneTex for Proteins for MASP2
- Santa Cruz Biotechnology (SCBT) Antibodies for MASP2
- Search Santa Cruz Biotechnology (SCBT) for MASP2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MASP2
- Horizon Cell Lines for MASP2
- genomics-online: cdna clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- orf clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- genomics-online: gRNA clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- genomics-online: primer clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- genomics-online: shRNA clones - Search results for 92 available MASP2 gene related products
- Overview of 92 available MASP2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MASP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MASP2
- GeneCopoeia miRNA 3'UTR Target clone products for MASP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MASP2
- Boster Bio Antibodies for MASP2
- Browse Boster Bio ELISA Kits
Sources for MASP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt