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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
55
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE INSUFFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIAL OCCLUSIVE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 17875183
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 10652157, 19408100, 19851769
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19711212
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24819208
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12393405
★☆☆☆☆
Found in Text Mining only
Acute otitis media Otitis media BEFREE 28403045
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 18288881
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12393405
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 12485445, 24103065
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 17266113, 26207622, 27605007
★☆☆☆☆
Found in Text Mining only