Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:MBL
mannose-binding lectin gene |
| gptkbp:associatedWith |
gptkb:systemic_lupus_erythematosus
chronic obstructive pulmonary disease recurrent infections rheumatoid arthritis cystic fibrosis HIV infection progression hepatitis B infection sepsis risk tuberculosis susceptibility |
| gptkbp:biologicalProcess |
activates complement via MASP proteins
binds to carbohydrate patterns on pathogens opsonization of pathogens |
| gptkbp:clinicalTrialPhase |
MBL deficiency test
|
| gptkbp:discoveredBy |
Kawasaki et al.
|
| gptkbp:discoveredIn |
1989
|
| gptkbp:encodes |
mannose-binding lectin 2
|
| gptkbp:Entrez_Gene_ID |
4153
ENSG00000106638 |
| gptkbp:expressedIn |
liver
|
| gptkbp:function |
pattern recognition
innate immune response |
| gptkbp:HGNC_ID |
6920
|
| https://www.w3.org/2000/01/rdf-schema#label |
MBL2 gene
|
| gptkbp:involvedIn |
gptkb:lectin_pathway
complement activation |
| gptkbp:length |
248 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10
10q21.1 |
| gptkbp:mutationAssociatedWith |
autoimmune diseases
immunodeficiency increased susceptibility to infections |
| gptkbp:OMIM |
154545
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
mouse Mbl2
|
| gptkbp:product |
homotrimer
MBL protein oligomeric complex |
| gptkbp:proteinFamily |
carbohydrate recognition domain
collagen-like domain collectin N-terminal cysteine-rich domain |
| gptkbp:regulates |
complement system
|
| gptkbp:UniProtID |
P11226
|
| gptkbp:variant |
rs1800450
rs1800451 rs5030737 |
| gptkbp:bfsParent |
gptkb:Mannose-binding_lectin
|
| gptkbp:bfsLayer |
7
|