MBL2 mannose binding lectin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBL2provided by HGNC
Official Full Name: mannose binding lectin 2provided by HGNC
Primary source: HGNC:HGNC:6922
See related: Ensembl:ENSG00000165471 MIM:154545; AllianceGenome:HGNC:6922
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 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]
Annotation information: Note: MBP (Gene ID: 4155) and MBL2 (Gene ID: 4153) share the MBP symbol/alias in common. MBP is a widely used alternative name for mannose binding lectin 2 (MBL2), which can be confused with the official symbol for MBP (myelin basic protein, GeneID 4155). [01 Jun 2018]; Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Restricted expression toward liver (RPKM 76.6) See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (52765380..52772784, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (53612365..53619761, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (54525140..54532544, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population.
Title: Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population.
Association of mannose binding lectin with chronic obstructive pulmonary disease susceptibility and its clinical outcomes.
Title: Association of mannose binding lectin with chronic obstructive pulmonary disease susceptibility and its clinical outcomes.
Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).
Title: Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).
Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children.
Title: Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children.
MBL2 gene variants and susceptibility to meningitis in Egyptian patients.
Title: MBL2 gene variants and susceptibility to meningitis in Egyptian patients.
Polymorphisms in the MBL2 gene are associated with the plasma levels of MBL and the cytokines IL-6 and TNF-alpha in severe COVID-19.
Title: Polymorphisms in the MBL2 gene are associated with the plasma levels of MBL and the cytokines IL-6 and TNF-α in severe COVID-19.
Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups.
Title: Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups.
Role of Mannose-binding Lectin and Association with Microbial Sensitization in a Cohort of Patients with Atopic Dermatitis.
Title: Role of Mannose-binding Lectin and Association with Microbial Sensitization in a Cohort of Patients with Atopic Dermatitis.
MBL2 gene polymorphisms related to HIV-1 infection susceptibility and treatment response.
Title: MBL2 gene polymorphisms related to HIV-1 infection susceptibility and treatment response.
Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study.
Title: Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study.

Submit: New GeneRIF Correction See all GeneRIFs (604)

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

Associated conditions

Description	Tests
Mannose-binding lectin deficiency MedGen: C3280586 OMIM: 614372 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120/MBL complex co-localizes with MAP2 and is transported along the microtubules in human primary neurons	PubMed
	env	HIV-1 gp120/MBL complex co-localizes with intracellular COPII vesicle markers Sec31A and Sec13 in neuronal cells	PubMed
	env	HIV-1 gp120/MBL complex co-localizes with the ER marker Erp57 and the Golgi marker p230 at subcellular perinuclear compartments in neuronal cells	PubMed
	env	MBL interacts directly with HIV-1 gp120 at perinuclear vesicles in neuronal cells, in which the functional carbonhydrate recognition domain of MBL is required	PubMed
	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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IDA Inferred from Direct Assay more info	PubMed
enables D-mannose binding	NAS Non-traceable Author Statement more info	PubMed
enables D-mannose binding	TAS Traceable Author Statement more info	PubMed
enables calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acute-phase response	TAS Traceable Author Statement more info	PubMed
involved_in antiviral innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, lectin pathway	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in killing by host of symbiont cells	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of viral process	IDA Inferred from Direct Assay more info	PubMed
involved_in opsonization	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of opsonization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	NAS Non-traceable Author Statement more info	PubMed
involved_in surfactant homeostasis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell surface	TAS Traceable Author Statement more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info
part_of serine-type endopeptidase complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: mannose-binding protein C

Names: collectin-1; mannan-binding lectin; mannose-binding lectin (protein C) 2, soluble (opsonic defect); mannose-binding lectin 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_000242.3 → NP_000233.1 mannose-binding protein C precursor

See identical proteins and their annotated locations for NP_000233.1

Status: REVIEWED

Description

Transcript Variant: Variants 1, 2 and 3 all encode the same protein.

Source sequence(s)

AL731550

Consensus CDS

CCDS7247.1

UniProtKB/Swiss-Prot

P11226, Q4VB12, Q4VB13, Q4VB14, Q5SQS3, Q86SI4, Q96KE4, Q96TF7, Q96TF8, Q96TF9

Related

ENSP00000363079.3, ENST00000373968.3

Conserved Domains (1) summary

cd03591
Location:136 → 246

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)
NM_001378373.1 → NP_001365302.1 mannose-binding protein C precursor

Status: REVIEWED

Description

Transcript Variant: Variants 1, 2 and 3 all encode the same protein.

Source sequence(s)

AL583855, AL731550

Consensus CDS

CCDS7247.1

UniProtKB/Swiss-Prot

P11226, Q4VB12, Q4VB13, Q4VB14, Q5SQS3, Q86SI4, Q96KE4, Q96TF7, Q96TF8, Q96TF9

Related

ENSP00000502789.1, ENST00000674931.1

Conserved Domains (1) summary

cd03591
Location:136 → 246

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)
NM_001378374.1 → NP_001365303.1 mannose-binding protein C precursor

Status: REVIEWED

Description

Transcript Variant: Variants 1, 2 and 3 all encode the same protein.

Source sequence(s)

AL583855, AL731550

Consensus CDS

CCDS7247.1

UniProtKB/Swiss-Prot

P11226, Q4VB12, Q4VB13, Q4VB14, Q5SQS3, Q86SI4, Q96KE4, Q96TF7, Q96TF8, Q96TF9

Related

ENSP00000502615.1, ENST00000675947.1

Conserved Domains (1) summary

cd03591
Location:136 → 246

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)