MASP2 (MBL associated serine protease 2)

2007-02-01 Affiliation

Identity

HGNC

MASP2

LOCATION

1p36.22

LOCUSID

10747

ALIAS

MAP-2,MAP19,MASP-2,MASP1P1,sMAP

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10747
MIM: 605102
HGNC: 6902
Ensembl: ENSG00000009724

Variants:

dbSNP: 10747
ClinVar: 10747
TCGA: ENSG00000009724
COSMIC: MASP2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000009724	ENST00000400897	O00187
ENSG00000009724	ENST00000400898	O00187

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Complement and coagulation cascades	KEGG	ko04610
Complement and coagulation cascades	KEGG	hsa04610
Staphylococcus aureus infection	KEGG	ko05150
Staphylococcus aureus infection	KEGG	hsa05150
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Complement cascade	REACTOME	R-HSA-166658
Initial triggering of complement	REACTOME	R-HSA-166663
Creation of C4 and C2 activators	REACTOME	R-HSA-166786
Lectin pathway of complement activation	REACTOME	R-HSA-166662
Ficolins bind to repetitive carbohydrate structures on the target cell surface	REACTOME	R-HSA-2855086

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18842294	2008	Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.	65
22691502	2012	Revised mechanism of complement lectin-pathway activation revealing the role of serine protease MASP-1 as the exclusive activator of MASP-2.	54
22966085	2012	Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function.	49
18582923	2008	Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults.	40
18582923	2008	Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults.	40
20002787	2010	Activation of mannan-binding lectin-associated serine proteases leads to generation of a fibrin clot.	37
23220946	2013	Collectin-11/MASP complex formation triggers activation of the lectin complement pathway--the fifth lectin pathway initiation complex.	36
23911397	2013	Toward a structure-based comprehension of the lectin pathway of complement.	34
19050632	2009	Polymorphisms in innate immunity genes predispose to bacteremia and death in the medical intensive care unit.	33

Citation

Dessen P

MASP2 (MBL associated serine protease 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46101/masp2