MBL2 (mannose binding lectin 2)

2007-02-01  

Identity

HGNC
LOCATION
10q21.1
LOCUSID
ALIAS
COLEC1,HSMBPC,MBL,MBL2D,MBP,MBP-C,MBP1,MBPD

Other Information

Locus ID:

NCBI: 4153
MIM: 154545
HGNC: 6922
Ensembl: ENSG00000165471

Variants:

dbSNP: 4153
ClinVar: 4153
TCGA: ENSG00000165471
COSMIC: MBL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165471ENST00000373968P11226

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Creation of C4 and C2 activatorsREACTOMER-HSA-166786
Lectin pathway of complement activationREACTOMER-HSA-166662

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
112553862001Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood.97
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
120479672002MBL genotype and risk of invasive pneumococcal disease: a case-control study.81
158387972005Mannose-binding lectin in severe acute respiratory syndrome coronavirus infection.80
158387972005Mannose-binding lectin in severe acute respiratory syndrome coronavirus infection.80
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
201402432010Genetically-defined deficiency of mannose-binding lectin is associated with protection after experimental stroke in mice and outcome in human stroke.59
186111552008Low serum mannose-binding lectin level increases the risk of death due to pneumococcal infection.56
186111552008Low serum mannose-binding lectin level increases the risk of death due to pneumococcal infection.56

Citation

Dessen P

MBL2 (mannose binding lectin 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45890/mbl2