MBL2 mannose-binding lectin (protein C) 2, soluble [Homo sapiens (human)] - Gene

Summary

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Official Symbol: MBL2provided by HGNC
Official Full Name: mannose-binding lectin (protein C) 2, solubleprovided by HGNC
Primary source: HGNC:6922
Locus tag: RP11-94H3.1
See related: Ensembl:ENSG00000165471; HPRD:01107; MIM:154545; Vega:OTTHUMG00000150270
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MBL; MBP; MBP1; MBPD; MBL2D; MBP-C; COLEC1; HSMBPC
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]

Genomic context

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Location :: 10q11.2

Sequence :: Chromosome: 10; NC_000010.10 (54525140..54531460, complement)

See MBL2 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

In this paper, possible cancer associations of one of the factors activating complement via the lectin pathway, mannan-binding lectin (MBL), are discussed.
Title: Mannan-binding lectin in malignancy.
MBL2 -550 genetic variant(s) associated with low serum concentration of MBL protein can increase the risk of prosthetic joint infection after total joint arthroplasty.
Title: MBL2 gene variation affecting serum MBL is associated with prosthetic joint infection in Czech patients after total joint arthroplasty.
Genetic polymorphisms attributable to mutations in the promoter and exon 1 of the MBL2 gene appear to be relatively common in pediatric patients with infectious diseases.
Title: Genetic polymorphisms and serum levels of mannose-binding lectin in Chinese pediatric patients with common infectious diseases.
The rs11003125 polymorphism located in the promoter region of MBL2 gene is associated with macrovascular complications of type 2 diabetes mellitus in thenorthern Chinese Han population.
Title: [Association between mannose-binding lectin 2 gene and protein kinase C-beta 1 gene polymorphisms and type 2 diabetic macrovascular complications in northern Chinese Han population].
MBL2 and fever during neutropenia in children with acute lymphoblastic leukaemia.
Title: MBL2 and fever during neutropenia in children with acute lymphoblastic leukaemia.
MBL-2 polymorphisms and gender are involved in the development of acute cellular rejection (ACR) after liver transplantation.
Title: Role of mannose-binding lectin-2 polymorphism in the development of acute cellular rejection after transplantation for hepatitis C virus-induced liver disease.
The variant non-A/A MBL genotype is associated with asthma after bronchiolitis in infancy, but not earlier than at 5-7 years of age.
Title: Association of MBL2 polymorphism with asthma after bronchiolitis in infancy.
MBL deficiency was associated with a reduced radiocontrast-induced renal dysfunction as reflected by the course of cystatin C.
Title: Impact of mannose-binding lectin deficiency on radiocontrast-induced renal dysfunction: a post-hoc analysis of a multicenter randomized controlled trial.
MBL deficiency influences susceptibility to febrile neutropenia in children with malignancy.
Title: Mannose-binding lectin genotype influences frequency and duration of infectious complications in children with malignancy.
Complement deficiency and polymorphism in the MBL2 gene are possible explanations for the development of meningococcal disease in some patients.
Title: Complement and mannose-binding lectin 2 polymorphism in meningococcal disease.

Submit: New GeneRIF Correction See all (346)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Mannose-binding protein deficiency

MIM: 614372

Genetic Testing Registry

NHGRI GWAS Catalog

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL	PubMed
	env	Treatment of HIV-1 gp120 with endoglycosidase H (eH) or endoglycosidase F1 (eF1) abrogates binding of MBL	PubMed
	env	DC-SIGN and MBL bind primarily to glycans on HIV-1 gp120/gp41; preincubation of CXCR4-, CCR5- or dual-tropic HIV-1 strains with MBL prevents DC-SIGN-mediated trans infection of T cells	PubMed
	env	Activation of the classical complement pathway by HIV-1 gp120 is initiated by the binding of MBP to carbohydrate side chains of gp120	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P11226	P30988	CALCR	HPRD	PubMed
P11226	P27797	CALR	HPRD	PubMed
P11226	Q9NPY3	CD93	HPRD	PubMed
P11226	P04264	KRT1	HPRD	PubMed
P11226	Q13257	MAD2L1	HPRD	PubMed
P11226	P48740	MASP1	HPRD	PubMed
P11226	O00187	MASP2	HPRD	PubMed
P11226	P11226	MBL2	HPRD	PubMed
P11226	P08575	PTPRC	HPRD	PubMed
BioGRID:110323	BioGRID:107262	CALR	BioGRID	PubMed	Reconstituted Complex
BioGRID:110323	BioGRID:110046	KRT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110323	BioGRID:111629	MASP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110323	BioGRID:115970	MASP2	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Complement and coagulation cascades, organism-specific biosystem (from KEGG)
Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
Complement and coagulation cascades, conserved biosystem (from KEGG)
Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
Complement cascade, organism-specific biosystem (from REACTOME)
Complement cascade, organism-specific biosystemThe complement system is a biochemical cascade, so named because it 'complements' the ability of antibodies to clear pathogens. It is part of the innate immune system. Complement system proteins circ...
Creation of C4 and C2 activators, organism-specific biosystem (from REACTOME)
Creation of C4 and C2 activators, organism-specific biosystemTwo pathways lead to a complex capable of activating C4 and C2. The classical pathway is triggered by activation of the C1-complex (C1q, 2X C1r and 2X C1s, thus forming C1qr2s2). This occurs when C...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Initial triggering of complement, organism-specific biosystem (from REACTOME)
Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Lectin pathway of complement activation, organism-specific biosystem (from REACTOME)
Lectin pathway of complement activation, organism-specific biosystemMannose-binding lectin (MBL), a Ca-dependent (C-type) lectin, initiates the complement cascade after binding to specific carbohydrate patterns on pathogenic cell surfaces. The MBL polypeptide chain c...
Phagosome, organism-specific biosystem (from KEGG)
Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
Phagosome, conserved biosystem (from KEGG)
Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
Staphylococcus aureus infection, conserved biosystem (from KEGG)
Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...

General gene information

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Markers

G10512 (e-PCR)
- UniSTS:60435

MBL2 (e-PCR)
- UniSTS:480046

STS-X15422 (e-PCR)
- UniSTS:53055

D10S2146 (e-PCR)
- UniSTS:65363

GDB:193870 (e-PCR)
- UniSTS:155778

STS-X15955 (e-PCR)
- UniSTS:65205

RH119687 (e-PCR)
- UniSTS:133056

NoName (e-PCR)
- UniSTS:483789

D10S1570 (e-PCR)
- UniSTS:5086

NoName (e-PCR)
- UniSTS:481250

MBL2_461 (e-PCR)
- UniSTS:277479

Genotypes

See MBL2 SNP Geneview Report
See MBL2 SNP Genotype Report
See MBL2 SNP Variation Viewer Report

Homology

Homologs of the MBL2 gene: The MBL2 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
bacterial cell surface binding	TAS Traceable Author Statement more info	PubMed
calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
eukaryotic cell surface binding	TAS Traceable Author Statement more info	PubMed
mannose binding	NAS Non-traceable Author Statement more info	PubMed
mannose binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acute-phase response	TAS Traceable Author Statement more info	PubMed
complement activation	TAS Traceable Author Statement more info
complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
complement activation, lectin pathway	IPI Inferred from Physical Interaction more info	PubMed
complement activation, lectin pathway	TAS Traceable Author Statement more info
defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
innate immune response	TAS Traceable Author Statement more info
killing by host of symbiont cells	IEA Inferred from Electronic Annotation more info
negative regulation of growth of symbiont in host	IDA Inferred from Direct Assay more info	PubMed
opsonization	TAS Traceable Author Statement more info	PubMed
positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
response to oxidative stress	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
collagen	IEA Inferred from Electronic Annotation more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mannose-binding protein C

Names: mannose-binding protein C; collectin-1; mannan-binding lectin; mannose-binding lectin 2, soluble (opsonic defect); mannose-binding lectin (protein C) 2, soluble (opsonic defect)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008196.1 RefSeqGene

Range

5001..11321

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_154

mRNA and Protein(s)

NM_000242.2 → NP_000233.1 mannose-binding protein C precursor

Status: REVIEWED

Source sequence(s)

AL731550

Consensus CDS

CCDS7247.1

UniProtKB/Swiss-Prot

P11226

UniProtKB/TrEMBL

Q5SQS3

Related

ENSP00000363079, OTTHUMP00000019622, ENST00000373968, OTTHUMT00000048115

Conserved Domains (1) summary

cd03591
Location:136 – 246
Blast Score: 466

CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

54525140..54531460, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

48503748..48510068, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

54909804..54916122, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB025350.1	BAB17020.1
genomic	ABBA01052515.1 (45892..52212)	None
genomic	AF080508.1	AAC31937.1
genomic	AF080510.1	AAC31937.1
genomic	AF482699.1	AAN39274.1
genomic	AF482700.1	AAN39275.1
genomic	AL583855.10	None
genomic	AL731550.11 (95562..101883)	None
genomic	AMYH01002744.1 (162547..168865)	None
genomic	CH471083.1	EAW54148.1
		EAW54149.1
genomic	CS251180.1	CAJ58412.1
genomic	DQ217939.1	ABB01009.1
genomic	EU596574.1	ACC62880.1
genomic	JA630840.1	CCE53522.1
genomic	JA638704.1	CCE67084.1
genomic	JA638769.1	CCE67089.1
genomic	JA638834.1	CCE67094.1
genomic	JA672739.1	CCF12075.1
genomic	JA878796.1	CCQ77659.1
genomic	JA883833.1	CCQ77665.1
genomic	JA883898.1	CCQ77670.1
genomic	X15954.1	CAA34079.1
genomic	Y16576.1	CAB56044.1
genomic	Y16577.1	CAB56120.1
genomic	Y16578.1	CAB56045.1
genomic	Y16579.1	CAB56121.1
genomic	Y16580.1	CAB56122.1
genomic	Y16581.1	CAB56123.1
genomic	Y16582.1	CAB56124.1
mRNA	AF360991.1	AAK52907.1
mRNA	AY826184.1	AAV80468.1
mRNA	BC069338.1	AAH69338.1
mRNA	BC096179.3	AAH96179.1
mRNA	BC096180.3	AAH96180.3
mRNA	BC096181.3	AAH96181.3
mRNA	BC096182.3	AAH96182.3
mRNA	X15422.1	CAA33462.1