Mbl2 mannose-binding lectin (protein C) 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mbl2provided by MGI
Official Full Name: mannose-binding lectin (protein C) 2provided by MGI
Primary source: MGI:MGI:96924
See related: Ensembl:ENSMUSG00000024863 AllianceGenome:MGI:96924
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MBL; L-MBP; MBL-C; MBP-C; RARF/P28A
Summary: Predicted to enable several functions, including calcium-dependent protein binding activity; identical protein binding activity; and mannose binding activity. Acts upstream of or within defense response to other organism and positive regulation of phagocytosis. Located in extracellular space. Is expressed in embryo. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); bacterial infectious disease (multiple); fungal infectious disease (multiple); liver disease (multiple); and lung disease (multiple). Orthologous to human MBL2 (mannose binding lectin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 158.5), liver E18 (RPKM 28.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 19 C1; 19 25.14 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (30210306..30217087)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (30232906..30239687)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The bone-liver interaction modulates immune and hematopoietic function through Pinch-Cxcl12-Mbl2 pathway.
Title: The bone-liver interaction modulates immune and hematopoietic function through Pinch-Cxcl12-Mbl2 pathway.
Mannan-Binding Lectin Reduces Epithelial-Mesenchymal Transition in Pulmonary Fibrosis via Inactivating the Store-Operated Calcium Entry Machinery.
Title: Mannan-Binding Lectin Reduces Epithelial-Mesenchymal Transition in Pulmonary Fibrosis via Inactivating the Store-Operated Calcium Entry Machinery.
Specific contribution of mannose-binding lectin murine isoforms to brain ischemia/reperfusion injury.
Title: Specific contribution of mannose-binding lectin murine isoforms to brain ischemia/reperfusion injury.
Mannan-binding lectin promotes keratinocyte to produce CXCL1 and enhances neutrophil infiltration at the early stages of psoriasis.
Title: Mannan-binding lectin promotes keratinocyte to produce CXCL1 and enhances neutrophil infiltration at the early stages of psoriasis.
Wild-type thymocytes naturally acquire the ability to protect themselves from complement targeting by MBL2 with maturation.
Title: Murine T Cell Maturation Entails Protection from MBL2, but Complement Proteins Do Not Drive Clearance of Cells That Fail Maturation in the Absence of NKAP.
MBL may be exploited as a new therapeutic approach in the treatment of chemical-induced sterile liver injury in patients with MBL deficiency.
Title: Mannan-binding lectin deficiency exacerbates sterile liver injury in mice through enhancing hepatic neutrophil recruitment.
this study shows that MBL-C expression is induced in the gut in response to Candida albicans sensing and is required for intestinal homeostasis and host defense against Candida albicans
Title: Role of mannose-binding lectin in intestinal homeostasis and fungal elimination.
Targeted deletion of Mbl1/2 causes differential levels of inflammation-related gene sets at baseline and after exposure to ozone and significantly reduces pulmonary inflammation, thus indicating an important innate immunomodulatory role of the Mbl1/2 genes.
Title: Effects of mannose-binding lectin on pulmonary gene expression and innate immune inflammatory response to ozone.
Human and murine data together indicate that SP-A, SP-D and MBL are synthesized in early gestational tissues, and may contribute to regulation of immune response at the feto-maternal interface during pregnancy.
Title: Expression and localization of collectins in feto-maternal tissues of human first trimester spontaneous abortion and abortion prone mouse model.
These data show that modulation of MBL is involved in the protection against renal I/RI induced by dietary restriction, and suggest that the mechanisms of protection induced by dietary restriction and fasting may be different.
Title: Mannan-Binding Lectin Is Involved in the Protection against Renal Ischemia/Reperfusion Injury by Dietary Restriction.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11440 (e-PCR)
- UniSTS:163611

Mbl2 (e-PCR), detects polymorphism
- UniSTS:532557

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables galactose binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables mannose binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in antiviral innate immune response	ISO Inferred from Sequence Orthology more info
involved_in cell surface pattern recognition receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within 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
acts_upstream_of_or_within complement activation, lectin pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within complement activation, lectin pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within complement activation, lectin pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within defense response to Gram-positive bacterium	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within defense response to Gram-positive bacterium	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within killing by host of symbiont cells	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of viral process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of complement activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of opsonization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of phagocytosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein processing	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in surfactant homeostasis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of serine-type endopeptidase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mannose-binding protein C

Names: RA-reactive factor P28A subunit; mannan-binding protein; mannose binding lectin, liver (C)

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.

mRNA and Protein(s)

NM_001365058.1 → NP_001351987.1 mannose-binding protein C precursor

Status: VALIDATED

Source sequence(s)

AC157986

Consensus CDS

CCDS29742.1

UniProtKB/Swiss-Prot

P41317

UniProtKB/TrEMBL

Q3UEK1

Conserved Domains (2) summary

pfam01391
Location:36 → 93

Collagen; Collagen triple helix repeat (20 copies)

cl02432
Location:132 → 242

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
NM_010776.2 → NP_034906.1 mannose-binding protein C precursor

See identical proteins and their annotated locations for NP_034906.1

Status: VALIDATED

Source sequence(s)

AK149484, DV653788

Consensus CDS

CCDS29742.1

UniProtKB/Swiss-Prot

P41317

UniProtKB/TrEMBL

Q3UEK1

Related

ENSMUSP00000025797.6, ENSMUST00000025797.7

Conserved Domains (2) summary

pfam01391
Location:36 → 93

Collagen; Collagen triple helix repeat (20 copies)

cl02432
Location:132 → 242

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

30210306..30217087

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526730.1 → XP_006526793.1 mannose-binding protein C isoform X1

See identical proteins and their annotated locations for XP_006526793.1

UniProtKB/Swiss-Prot

P41317

UniProtKB/TrEMBL

Q3UEK1

Conserved Domains (2) summary

pfam01391
Location:36 → 93

Collagen; Collagen triple helix repeat (20 copies)

cl02432
Location:132 → 242

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain