Basic Information

MBL2

Full name: mannose binding lectin 2

Gene type: protein coding

HGNC ID: HGNC:6922

Gene location: 10q21.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/4153

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:6922

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001378373.1

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P11226

AlphaFold: https://alphafold.ebi.ac.uk/entry/P11226

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/154545

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=4153

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04145+4153

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
MBL2	AMD	Missense Variant	rs1800451	C>T	chr10:52771466 (GRCh38.p13)
MBL2			rs1800450
MBL2		Missense Variant	rs5030737	G>A / G>T	chr10:52771482 (GRCh38.p13)
MBL2		Intron Variant	rs7096206	G>A / G>C / G>T	chr10:52771925 (GRCh38.p13)