• Gene id: 4153

Gene Summary

• Gene Symbol: MBL2   Gene   UCSC   Ensembl
• Aliases: COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD
• Gene name: mannose binding lectin 2
• Alternate names: mannose-binding protein C, collectin-1, mannan-binding lectin, mannose-binding lectin (protein C) 2, soluble (opsonic defect), mannose-binding lectin 2, soluble (opsonic defect),
• Gene location: 10q21.1 (52772783: 52765379)     Exons: 5     NC_000010.11
• Gene summary(Entrez): 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-acetylglucosa
• OMIM: 610432

Protein Summary

• Protein general information: P11226  
  • Name: Mannose binding protein C (MBP C) (Collectin 1) (MBP1) (Mannan binding protein) (Mannose binding lectin)
  • Length: 248  
  • Mass: 26144
  • Tissue specificity: Plasma protein produced mainly in the liver. {ECO
• Sequence:

  MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKGEKGEPGQGLRGLQGPPGK
  LGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEK
  VKALCVKFQASVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLL
  LKNGQWNDVPCSTSHLAVCEFPI

• Structural information:
  • Protein Domains: (42..9-)
    (/note="Collagen-like-)
    (134..24-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040"-)
  • Interpro: IPR001304  IPR016186  IPR018378  IPR008160  IPR033990   IPR016187  IPR037570  
  • Prosite: PS00615 PS50041
  • CDD: cd03591
  • PDB: 1HUP
  • PDBsum: 1HUP
  • DIP: 61381
  • STRING: ENSP00000363079
• Other Databases: GeneCards:  MBL2  Malacards:  MBL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001867	complement activation, lectin pathway	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0005614	interstitial matrix	IBA	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001867	complement activation, lectin pathway	IEA	biological process
GO:0005537	mannose binding	IEA	molecular function
GO:0001867	complement activation, lectin pathway	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0005537	mannose binding	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005581	collagen trimer	IEA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0001867	complement activation, lectin pathway	IDA	biological process
GO:0001867	complement activation, lectin pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051873	killing by host of symbiont cells	IEA	biological process
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001867	complement activation, lectin pathway	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0045087	innate immune response	IDA	biological process
GO:0005537	mannose binding	IDA	molecular function
GO:0048525	negative regulation of viral process	IDA	biological process
GO:0005537	mannose binding	TAS	molecular function
GO:0008228	opsonization	TAS	biological process
GO:0006953	acute-phase response	TAS	biological process
GO:0009986	cell surface	TAS	cellular component
GO:0042742	defense response to bacterium	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006979	response to oxidative stress	NAS	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0001867	complement activation, lectin pathway	IPI	biological process
GO:0005537	mannose binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Mannose-binding lectin pathway component defects	KEGG:H00105
Kartagener syndrome	PMID:24753481
Lupus nephritis	PMID:24850777
Sensorineural hearing loss	PMID:23246423
Legionnaires' disease	PMID:19073229
Alzheimer's disease	PMID:9631454
Alzheimer's disease	PMID:23348713
primary open angle glaucoma	PMID:22335808
Otitis media	PMID:16750996
Adult respiratory distress syndrome	PMID:17133182
common variable immunodeficiency	PMID:10652157
Vitiligo	PMID:17337399
Hemolytic-uremic syndrome	PMID:27378476
newborn respiratory distress syndrome	PMID:25879044
lung cancer	PMID:19959685
Behcet's disease	PMID:15693089
Behcet's disease	PMID:15730518
Temporal arteritis	PMID:12375325
Kawasaki disease	PMID:15144709
Cystic fibrosis	PMID:16879250
Cystic fibrosis	PMID:10449435
Thrombocytopenia	PMID:18361938
Ovarian cancer	PMID:25038892
Ovarian cancer	PMID:25038892
Bronchiolitis obliterans	PMID:19104434
Asthma	PMID:22512728
Chronic obstructive pulmonary disease	PMID:19411612
Chronic obstructive pulmonary disease	PMID:20688922
Atopic dermatitis	PMID:20642202
Bipolar disorder	PMID:24856568
Peripheral vascular disease	PMID:15295097
Pulmonary fibrosis	PMID:18637104
Liver disease	PMID:19467940
Coronary restenosis	PMID:15790942
Aortic valve insufficiency	PMID:18400978
Panic disorder	PMID:24856568
juvenile rheumatoid arthritis	PMID:18334024
hepatocellular carcinoma	PMID:27557564
hepatocellular carcinoma	PMID:21733090
End stage renal failure	PMID:16801331
Polymyalgia rheumatica	PMID:12375325
Crohn's disease	PMID:21702710
Psoriasis	PMID:23113841
Systemic lupus erythematosus	PMID:21510992
Systemic lupus erythematosus	PMID:11561111
Pemphigus	PMID:21327568
Bronchiectasis	PMID:20568383
obesity	PMID:16955210
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881