MBL2 (mannose binding lectin 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4153
Gene name Gene Name - the full gene name approved by the HGNC.
Mannose binding lectin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MBL2
Synonyms (NCBI Gene) Gene synonyms aliases
COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
154545 6922 ENSG00000165471
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Phagosome
Complement and coagulation cascades
Staphylococcus aureus infection
Coronavirus disease - COVID-19 		  Lectin pathway of complement activation
Initial triggering of complement
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cystic Fibrosis cystic fibrosis N/A N/A ClinVar
Show/Hide Text Mining Associations (239)
Associations from Text Mining Disease 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