MBL2 mannose binding lectin 2
Gene ID: 4153, updated on 5-Mar-2024Gene type: protein coding
Also known as: MBL; MBP; MBP1; MBPD; MBL2D; MBP-C; COLEC1; HSMBPC
- See all available tests in GTR for this gene
- Go to complete Gene record for MBL2
- Go to Variation Viewer for MBL2 variants
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-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. GeneReviews: Not available | |
| Mannose-binding lectin deficiency | See labs |
Genomic context
- Location:
- 10q21.1
- Sequence:
- Chromosome: 10; NC_000010.11 (52765380..52772784, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MBL2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MBL2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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