MBL2

mannose binding lectin 2, the group of Complement system activation components|Collectins

Basic information

Region (hg38): 10:52765379-52772784

Previous symbols: [ "MBL" ]

Links

ENSG00000165471 ∙ NCBI:4153 ∙ OMIM:154545 ∙ HGNC:6922 ∙ Uniprot:P11226 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Mannose-binding protein deficiency	AD	Pharmacogenomic	Low MBL levels are associated with increased risk of infection in young children, cancer patients undergoing chemotherapy, and organ-transplant patients treated with immunosuppressive regimens, especially liver transplant recipients	Biochemical	21871896

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MBL2 gene.

• Mannose-binding lectin deficiency (88 variants)
• not provided (15 variants)
• Inborn genetic diseases (7 variants)
• not specified (4 variants)
• MBL2-related condition (3 variants)
• Cystic fibrosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBL2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			6	3		9
missense			17	2		19
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	2		3
non coding			51	10		61
Total	0	0	75	15	0

Variants in MBL2

This is a list of pathogenic ClinVar variants found in the MBL2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-52765386-T-G		Mannose-binding lectin deficiency	Uncertain significance (Jan 15, 2018)
10-52765410-C-A		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52765435-C-T		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52765489-G-T		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)
10-52765660-G-A		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52765667-T-G		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52765680-C-G		Mannose-binding lectin deficiency	Uncertain significance (Apr 27, 2017)
10-52765687-T-A		Mannose-binding lectin deficiency	Conflicting classifications of pathogenicity (Feb 01, 2023)
10-52765749-A-C		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)
10-52765918-T-G		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)
10-52765928-A-G		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52765930-C-T		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52766008-A-G		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)
10-52766070-G-A		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52766071-C-A		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)
10-52766089-T-C		Mannose-binding lectin deficiency	Likely benign (Jan 12, 2018)
10-52766097-C-A		Mannose-binding lectin deficiency	Likely benign (Jan 12, 2018)
10-52766104-C-T		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)
10-52766105-G-A		Mannose-binding lectin deficiency	Uncertain significance (Jan 15, 2018)
10-52766141-AG-A		Mannose-binding lectin deficiency	Uncertain significance (Jun 14, 2016)
10-52766224-G-A		Mannose-binding lectin deficiency	Likely benign (Jan 12, 2018)
10-52766258-T-G		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)
10-52766280-T-C		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)
10-52766298-T-C		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)
10-52766318-A-G		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBL2	protein_coding	protein_coding	ENST00000373968	4	6321

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00268	0.580	125738	0	6	125744	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.301	118	128	0.925	0.00000620	1591
Missense in Polyphen		40	42.888	0.93265		553
Synonymous	-0.0147	50	49.9	1.00	0.00000252	507
Loss of Function	0.344	4	4.81	0.831	2.01e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000999	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA. {ECO:0000269|PubMed:14515269}.
• Pathway: Complement and coagulation cascades - Homo sapiens (human);Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Human Complement System;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;lectin induced complement pathway;Innate Immune System;Immune System;Initial triggering of complement;Lectin pathway of complement activation;Creation of C4 and C2 activators;Complement cascade (Consensus)

Recessive Scores

• pRec: 0.455

Intolerance Scores

• loftool: 0.425
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.96

Haploinsufficiency Scores

• pHI: 0.777
• hipred: N
• hipred_score: 0.213
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.908

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mbl2
• Phenotype: homeostasis/metabolism phenotype; renal/urinary system phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: complement activation, lectin pathway;growth plate cartilage chondrocyte morphogenesis;proteolysis;acute-phase response;complement activation;complement activation, classical pathway;response to oxidative stress;opsonization;defense response to bacterium;negative regulation of growth of symbiont in host;innate immune response;negative regulation of viral process;positive regulation of phagocytosis;defense response to Gram-positive bacterium;killing by host of symbiont cells
• Cellular component: extracellular region;collagen trimer;extracellular space;cell surface;extracellular matrix
• Molecular function: serine-type endopeptidase activity;signaling receptor binding;calcium ion binding;protein binding;mannose binding;calcium-dependent protein binding