Details for: MASP2

Gene ID: 10747

Symbol: MASP2

Ensembl ID: ENSG00000009724

Description: MBL associated serine protease 2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 5.26
    Marker Score: 15,605
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 4
    Marker Score: 11,469
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.25
    Marker Score: 27,454
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.58
    Marker Score: 8,512
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.53
    Marker Score: 6,613
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.53
    Marker Score: 9,806
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.52
    Marker Score: 619
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 871
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.35
    Marker Score: 604
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.19
    Marker Score: 15,773
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.13
    Marker Score: 6,801
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 798
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,050
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.98
    Marker Score: 2,478
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,339
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.82
    Marker Score: 345
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.82
    Marker Score: 2,696
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.78
    Marker Score: 533
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.77
    Marker Score: 1,589
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.68
    Marker Score: 398
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.67
    Marker Score: 211
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.61
    Marker Score: 168
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.6
    Marker Score: 640
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 451
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.52
    Marker Score: 2,186
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.52
    Marker Score: 989
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.52
    Marker Score: 153
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.5
    Marker Score: 251
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.49
    Marker Score: 589
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.46
    Marker Score: 222
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.45
    Marker Score: 7,021
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.41
    Marker Score: 558
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 389
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4
    Marker Score: 996
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.37
    Marker Score: 151
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.37
    Marker Score: 196
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 373
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.37
    Marker Score: 139
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.36
    Marker Score: 238
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.35
    Marker Score: 123
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.34
    Marker Score: 106
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.33
    Marker Score: 1,187
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.33
    Marker Score: 282
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.32
    Marker Score: 519
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.32
    Marker Score: 121
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.32
    Marker Score: 403
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.31
    Marker Score: 638
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.31
    Marker Score: 313
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.31
    Marker Score: 98
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3
    Marker Score: 655
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.29
    Marker Score: 164
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.29
    Marker Score: 92
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.29
    Marker Score: 6,408
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.28
    Marker Score: 674
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.28
    Marker Score: 115
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.27
    Marker Score: 81
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.27
    Marker Score: 155
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.24
    Marker Score: 300
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.23
    Marker Score: 141
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.22
    Marker Score: 147
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.22
    Marker Score: 235
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.21
    Marker Score: 192
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.21
    Marker Score: 125
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.21
    Marker Score: 98
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.2
    Marker Score: 830
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.2
    Marker Score: 81
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.2
    Marker Score: 90
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.2
    Marker Score: 50
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.2
    Marker Score: 187
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.19
    Marker Score: 68
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.18
    Marker Score: 527
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.18
    Marker Score: 91
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.18
    Marker Score: 50
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.18
    Marker Score: 454
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.18
    Marker Score: 1,195
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.18
    Marker Score: 159
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.18
    Marker Score: 202
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.17
    Marker Score: 407
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.17
    Marker Score: 220
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.17
    Marker Score: 69
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.16
    Marker Score: 89
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.16
    Marker Score: 113
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.15
    Marker Score: 67
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.15
    Marker Score: 152
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.15
    Marker Score: 44
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.15
    Marker Score: 71
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.15
    Marker Score: 71
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.15
    Marker Score: 85
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.14
    Marker Score: 63
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.13
    Marker Score: 86

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Serine protease activity**: MASP2 exhibits serine protease activity, which is essential for its function in the complement system. 2. **Lectin pathway activation**: MASP2 is involved in the activation of the lectin pathway of complement, which is triggered by the binding of mannose-binding lectin (MBL) to carbohydrate structures on the surface of pathogens. 3. **Classical pathway activation**: MASP2 also participates in the activation of the classical pathway of complement, which is triggered by the binding of C1q to antibody-coated pathogens. 4. **Complement component C4b binding**: MASP2 binds to complement component C4b, which is a critical step in the activation of the complement cascade. 5. **Proteolysis**: MASP2 exhibits proteolytic activity, which is essential for the cleavage of complement components and the generation of active fragments. **Pathways and Functions:** The complement system is a complex network of proteins that work together to eliminate pathogens from the body. MASP2 plays a crucial role in the activation of the lectin and classical pathways of complement, which are essential for the recognition and elimination of pathogens. The following pathways and functions are associated with MASP2: 1. **Lectin pathway of complement activation**: MASP2 is activated by the binding of MBL to carbohydrate structures on the surface of pathogens, leading to the cleavage of C4 and C2, and the generation of active fragments. 2. **Classical pathway of complement activation**: MASP2 is activated by the binding of C1q to antibody-coated pathogens, leading to the cleavage of C4 and C2, and the generation of active fragments. 3. **Complement cascade**: MASP2 participates in the activation of the complement cascade, which is a series of reactions that lead to the generation of active fragments and the elimination of pathogens. 4. **Opsonization**: MASP2 contributes to the opsonization of pathogens, which is the process by which pathogens are marked for destruction by the immune system. **Clinical Significance:** Dysregulation of the complement system, including the MASP2 gene, has been implicated in various diseases, including: 1. **Infectious diseases**: MASP2 has been implicated in the pathogenesis of various infectious diseases, including sepsis, pneumonia, and urinary tract infections. 2. **Autoimmune disorders**: MASP2 has been implicated in the pathogenesis of autoimmune disorders, including systemic lupus erythematosus and rheumatoid arthritis. 3. **Cancer**: MASP2 has been implicated in the pathogenesis of cancer, including lung cancer and breast cancer. 4. **SARS-CoV-2 infection**: MASP2 has been implicated in the pathogenesis of SARS-CoV-2 infection, including the activation of the complement system and the modulation of innate and adaptive immune responses. In conclusion, MASP2 is a critical component of the complement system, and its dysregulation has significant implications for human health. Further research is needed to understand the mechanisms of MASP2 and its role in disease, as well as the development of therapeutic strategies to modulate its activity.

Genular Protein ID: 1555213647

Symbol: MASP2_HUMAN

Name: Mannan-binding lectin serine protease 2

UniProtKB Accession Codes:

O00187 A8K458 A8MWJ2 O75754 Q5TEQ5 Q5TER0 Q96QG4 Q9BZH0 Q9H498 Q9H499 Q9UBP3 Q9UC48 Q9ULC7 Q9UMV3 Q9Y270

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 4 CPTAC 1 CTD 1 ChEBI 11 ChEMBL 1 ComplexPortal 5 DNASU 1 DisGeNET 1 DrugBank 2 EC 2 EMBL 24 Ensembl 2 EvolutionaryTrace 1 GO 12 Gene3D 4 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 14 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 5 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 7 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 4 RefSeq 2 SABIO-RK 1 SIGNOR 1 SMART 5 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9087411

Title: A second serine protease associated with mannan-binding lectin that activates complement.

PubMed ID: 9087411

DOI: 10.1038/386506a0

PubMed ID: 10330290

Title: A truncated form of mannose-binding lectin-associated serine protease (MASP)-2 expressed by alternative polyadenylation is a component of the lectin complement pathway.

PubMed ID: 10330290

DOI: 10.1093/intimm/11.5.859

PubMed ID: 10092804

Title: Two constituents of the initiation complex of the mannan-binding lectin activation pathway of complement are encoded by a single structural gene.

PubMed ID: 10092804

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 8618346

Title: Towards a comprehensive database of proteins from the urine of patients with bladder cancer.

PubMed ID: 8618346

DOI: 10.1097/00005392-199606000-00099

PubMed ID: 11426320

Title: The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.

PubMed ID: 11426320

DOI: 10.1038/sj.gene.6363745

PubMed ID: 10946292

Title: Proteolytic activities of two types of mannose-binding lectin-associated serine protease.

PubMed ID: 10946292

DOI: 10.4049/jimmunol.165.5.2637

PubMed ID: 15117939

Title: The X-ray structure of human mannan-binding lectin-associated protein 19 (MAp19) and its interaction site with mannan-binding lectin and L-ficolin.

PubMed ID: 15117939

DOI: 10.1074/jbc.m402687200

PubMed ID: 15364579

Title: The structure of MBL-associated serine protease-2 reveals that identical substrate specificities of C1s and MASP-2 are realized through different sets of enzyme-substrate interactions.

PubMed ID: 15364579

DOI: 10.1016/j.jmb.2004.07.014

PubMed ID: 16040602

Title: A true autoactivating enzyme. Structural insight into mannose-binding lectin-associated serine protease-2 activations.

PubMed ID: 16040602

DOI: 10.1074/jbc.m506051200

PubMed ID: 12904520

Title: Inherited deficiency of mannan-binding lectin-associated serine protease 2.

PubMed ID: 12904520

DOI: 10.1056/nejmoa022836

PubMed ID: 16029433

Title: Novel MASP2 variants detected among North African and Sub-Saharan individuals.

PubMed ID: 16029433

DOI: 10.1111/j.1399-0039.2005.00436.x

PubMed ID: 17252003

Title: Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.

PubMed ID: 17252003

DOI: 10.1038/sj.gene.6364373

PubMed ID: 25930971

Title: A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

PubMed ID: 25930971

DOI: 10.1111/cge.12605

Sequence Information:

  • Length: 686
  • Mass: 75702
  • Checksum: ED952085FA115E21
  • Sequence:
    • MRLLTLLGLL CGSVATPLGP KWPEPVFGRL ASPGFPGEYA NDQERRWTLT APPGYRLRLY 
FTHFDLELSH LCEYDFVKLS SGAKVLATLC GQESTDTERA PGKDTFYSLG SSLDITFRSD 
YSNEKPFTGF EAFYAAEDID ECQVAPGEAP TCDHHCHNHL GGFYCSCRAG YVLHRNKRTC 
SALCSGQVFT QRSGELSSPE YPRPYPKLSS CTYSISLEEG FSVILDFVES FDVETHPETL 
CPYDFLKIQT DREEHGPFCG KTLPHRIETK SNTVTITFVT DESGDHTGWK IHYTSTAQPC 
PYPMAPPNGH VSPVQAKYIL KDSFSIFCET GYELLQGHLP LKSFTAVCQK DGSWDRPMPA 
CSIVDCGPPD DLPSGRVEYI TGPGVTTYKA VIQYSCEETF YTMKVNDGKY VCEADGFWTS 
SKGEKSLPVC EPVCGLSART TGGRIYGGQK AKPGDFPWQV LILGGTTAAG ALLYDNWVLT 
AAHAVYEQKH DASALDIRMG TLKRLSPHYT QAWSEAVFIH EGYTHDAGFD NDIALIKLNN 
KVVINSNITP ICLPRKEAES FMRTDDIGTA SGWGLTQRGF LARNLMYVDI PIVDHQKCTA 
AYEKPPYPRG SVTANMLCAG LESGGKDSCR GDSGGALVFL DSETERWFVG GIVSWGSMNC 
GEAGQYGVYT KVINYIPWIE NIISDF

Genular Protein ID: 2518107509

Symbol: A0A8V8TQY3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A8V8TQY3

Database IDs:

ARBA 4 CDD 2 CTD 1 EMBL 2 Ensembl 2 GO 1 Gene3D 2 GeneTree 1 HGNC 1 InterPro 6 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PROSITE 5 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 Proteomes 2 RefSeq 1 SAM 1 SMART 3 SMR 1 SUPFAM 2

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 332
  • Mass: 37136
  • Checksum: 25506C968927C83E
  • Sequence:
    • MRLLTLLGLL CGSVATPLGP KWPEPVFGRL ASPGFPGEYA NDQERRWTLT APPGYRLRLY 
FTHFDLELSH LCEYDFVKLS SGAKVLATLC GQESTDTERA PGKDTFYSLG SSLDITFRSD 
YSNEKPFTGF EAFYAAEDID ECQVAPGEAP TCDHHCHNHL GGFYCSCRAG YVLHRNKRTC 
SALCSGQVFT QRSGELSSPE YPRPYPKLSS CTYSISLEEG FSVILDFVES FDVETHPETL 
CPYDFLKIQT DREEHGPFCG KTLPHRIETK SNTVTITFVT DESGDHTGWK IHYTSTELQM 
ARFSLGCCRP HENQQAWFPL RSAALPLSDG AT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.