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

Gene ID: 4153, updated on 19-Nov-2014
Official Symbol
MBL2provided by HGNC
Official Full Name
mannose-binding lectin (protein C) 2, solubleprovided by HGNC
Primary source
HGNC: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]
See MBL2 in Epigenomics, MapViewer
Location:
10q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (52760860..52772818, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (54525140..54532578, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 1468 Neighboring gene small nuclear ribonucleoprotein polypeptide E pseudogene 8 Neighboring gene protocadherin-related 15 Neighboring gene neurofilament, medium polypeptide pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mannose-binding protein deficiency
MedGen: C1835140 OMIM: 614372 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
NHGRI GWA Catalog

Protein interactions

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 Interaction Database

  • 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 biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • 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, which consists of hexameric molecule C1q and a tetramer comprising t...
  • 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) and ficolins (Ficolin-1, Ficolin-2 and Ficolin-3) are Ca-dependent (C-type) lectins, which initiate the complement cascade after binding to specific carbohydrate patterns...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC116832, MGC116833

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
mannose binding IDA
Inferred from Direct Assay
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 
defense response to bacterium TAS
Traceable Author Statement
more info
PubMed 
innate immune response 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 
negative regulation of viral process 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
cell surface TAS
Traceable Author Statement
more info
PubMed 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
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)

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

  1. NG_008196.1 

    Range
    5001..11321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_154

mRNA and Protein(s)

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

    See proteins identical to NP_000233.1

    Status: REVIEWED

    Source sequence(s)
    AL731550
    Consensus CDS
    CCDS7247.1
    UniProtKB/Swiss-Prot
    P11226
    Related
    ENSP00000363079, OTTHUMP00000019622, ENST00000373968, OTTHUMT00000048115
    Conserved Domains (1) summary
    cd03591
    Location:136246
    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 106

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

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    48503748..48510068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    52760860..52772818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717862.1XP_006717925.1  

    Conserved Domains (1) summary
    cd03591
    Location:18125
    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)
  2. XM_005269844.2XP_005269901.2  

    See proteins identical to XP_005269901.2

    Conserved Domains (1) summary
    cd03591
    Location:136243
    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)
  3. XM_006717860.1XP_006717923.1  

    See proteins identical to XP_006717923.1

    Conserved Domains (1) summary
    cd03591
    Location:136243
    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)
  4. XM_006717861.1XP_006717924.1  

    See proteins identical to XP_006717924.1

    UniProtKB/Swiss-Prot
    P11226
    Conserved Domains (1) summary
    cd03591
    Location:136246
    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)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    54806939..54813257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)