Gene Gene information from NCBI Gene database.
Entrez ID 4153
Gene name Mannose binding lectin 2
Gene symbol MBL2
Synonyms (NCBI Gene)
COLEC1HSMBPCMBLMBL2DMBPMBP-CMBP1MBPD
Chromosome 10
Chromosome location 10q21.1
Summary This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1800450 C>T Pathogenic Coding sequence variant, missense variant
rs5030737 G>A Risk-factor, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
145
miRTarBase ID miRNA Experiments Reference
MIRT618888 hsa-miR-619-3p HITS-CLIP 23824327
MIRT618887 hsa-miR-7851-3p HITS-CLIP 23824327
MIRT618886 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT618885 hsa-miR-6893-5p HITS-CLIP 23824327
MIRT618884 hsa-miR-940 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001867 Process Complement activation, lectin pathway IDA 15148336, 18204047, 23386610
GO:0001867 Process Complement activation, lectin pathway IDA 9087411, 22691502, 35102342
GO:0001867 Process Complement activation, lectin pathway IEA
GO:0001867 Process Complement activation, lectin pathway IEA
GO:0001867 Process Complement activation, lectin pathway IPI 11549596
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
154545 6922 ENSG00000165471
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11226
Protein name Mannose-binding protein C (MBP-C) (Collectin-1) (MBP1) (Mannan-binding protein) (Mannose-binding lectin)
Protein function Calcium-dependent lectin involved in innate immune defense (PubMed:35102342). Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apo
PDB 1HUP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 40 104 Collagen triple helix repeat (20 copies) Repeat
PF00059 Lectin_C 144 246 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Plasma protein produced mainly in the liver. {ECO:0000269|PubMed:18006063}.
Sequence
Sequence length 248
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phagosome
Complement and coagulation cascades
Staphylococcus aureus infection
Coronavirus disease - COVID-19
  Lectin pathway of complement activation
Initial triggering of complement
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
97
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cystic fibrosis Conflicting classifications of pathogenicity rs5030737 RCV000991134
Mannose-binding lectin deficiency Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs149216902, rs1800450, rs1800451, rs5030737, rs138449358, rs56325023, rs544901610, rs751460283, rs774307463, rs35768126, rs754268753, rs56009657, rs886047049, rs143562102, rs886047052
View all (73 more)
RCV001332301
RCV000015424
RCV000015425
RCV000015426
RCV000263903
RCV000334131
RCV000408206
RCV000305946
RCV000357130
RCV000312486
RCV000332412
RCV000269194
RCV000405650
RCV000373660
RCV000320152
RCV000294457
RCV000316810
RCV000387675
RCV000290537
RCV000341830
RCV000404555
RCV000367075
RCV000383002
RCV000285475
RCV000281920
RCV000350185
RCV000315219
RCV000322365
RCV000358518
RCV000323543
RCV000274421
RCV000388622
RCV000289598
RCV000340808
RCV000297618
RCV000328982
RCV000284430
RCV000335836
RCV000391264
RCV000369938
RCV000307052
RCV000366361
RCV000271799
RCV000344465
RCV000385044
RCV000261947
RCV000277266
RCV000363718
RCV000320760
RCV000379963
RCV000391262
RCV000268459
RCV000374843
RCV000390620
RCV001104675
RCV005392373
RCV001102750
RCV001102559
RCV001102560
RCV001104480
RCV001104481
RCV001104482
RCV001104483
RCV001107250
RCV001107891
RCV001107892
RCV001102663
RCV001102664
RCV001104577
RCV001104578
RCV001107330
RCV001107331
RCV001107332
RCV001107981
RCV001107982
RCV001107983
RCV001107984
RCV001102748
RCV001102749
RCV001102751
RCV001102752
RCV001104671
RCV001104672
RCV001104674
RCV001105835
RCV001105836
RCV001105837
RCV001104673
MBL2-related disorder Uncertain significance rs201305883, rs146554537, rs747467008, rs143562102, rs760332285, rs371397104 RCV003936687
RCV003410657
RCV003427917
RCV003417972
RCV003950009
RCV003906204
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 17875183
Abnormalities Drug Induced Associate 15086395
Abortion Habitual Associate 36776871
Abortion Spontaneous Associate 11737072, 28898115, 36776871
Abscess Associate 22444663
Acquired Immunodeficiency Syndrome Associate 18498240, 19057812
Acute Kidney Injury Associate 30967869, 36618347
Acute Lung Injury Associate 18950526
Agranulocytosis Associate 18637104
AIDS Associated Nephropathy Associate 18602571