MBL2
LOCUS ID4153
GENE_SYMBOLMBL2
GENE NAMEmannose-binding lectin (protein C) 2, soluble
SYNONYMNSMBL, MBP, MBP1, MBPD, MBL2D, MBP-C, COLEC1, HSMBPC
CHROMOSOME10
HOMOLOGENE ID110436
microRNAsNANA
GENE 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 mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. An association between elevated serum MBL and diabetic nephropathy was also observed. 2. Subjects with the GG genotype of rs1800450 and the CC genotype of rs11003125 had much higher serum MBL levels. An association between elevated serum MBL and diabetic nephropathy was also observed.24376633
Cardiovascular1. Low Mannose-Binding Lectin (MBL) genotype is associated with future cardiovascular events in type 2 diabetic South Asians. In type 2 diabetic South Asians, the O/O MBL genotype is associated with cardiovascular events, although single serum MBL levels are not.21729275
Retinopathy1. Diabetic patients with DR and vision-threatening diabetic retinopathy (VTDR) had significantly higher MBL levels on admission (P<0.0001 and P<0.0001).26136138
Neuropathy1. The rs11003125 polymorphism located in the promoter region of MBL2 gene is associated with macrovascular complications of T2DM in northern Chinese Han population.There were additive interactive effects for rs11003125 polymorphism (GC+CC) and hypertension, diabetic nephropathy, diabetic neuropathy and diabetic retinopathy on macrovascular complications.23225056