MBL2 (mannose binding lectin 2) - Rat Genome Database

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Gene: MBL2 (mannose binding lectin 2) Homo sapiens
Analyze
Symbol: MBL2
Name: mannose binding lectin 2
RGD ID: 735547
HGNC Page HGNC:6922
Description: Enables several functions, including D-mannose binding activity; calcium-dependent protein binding activity; and identical protein binding activity. Involved in several processes, including antiviral innate immune response; cell surface pattern recognition receptor signaling pathway; and positive regulation of opsonization. Acts upstream of or within complement activation, lectin pathway and defense response to Gram-positive bacterium. Located in extracellular space. Part of serine-type endopeptidase complex. Implicated in several diseases, including autoimmune disease (multiple); bacterial infectious disease (multiple); fungal infectious disease (multiple); liver disease (multiple); and lung disease (multiple). Biomarker of several diseases, including Legionnaires' disease; autoimmune disease (multiple); coccidioidomycosis; liver disease (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COLEC1; collectin-1; HSMBPC; mannan-binding lectin; mannose-binding lectin (protein C) 2, soluble (opsonic defect); mannose-binding lectin 2, soluble (opsonic defect); mannose-binding protein C; mannose-binding protein c (liver); MBL; MBL2D; MBP; MBP-C; MBP1; MBPD; MGC116832; MGC116833
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI 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.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381052,765,380 - 52,772,784 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1052,765,380 - 52,772,784 (-)Ensemblhg38GRCh38
GRCh371054,525,140 - 54,532,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361054,195,146 - 54,201,466 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341054,195,146 - 54,201,466NCBI
Celera1047,788,072 - 47,794,392 (-)NCBICelera
Cytogenetic Map10q21.1NCBI
HuRef1048,503,748 - 48,510,068 (-)NCBIHuRef
CHM1_11054,806,939 - 54,813,257 (-)NCBICHM1_1
T2T-CHM13v2.01053,612,365 - 53,619,761 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
adult respiratory distress syndrome  (IAGP)
allergic bronchopulmonary aspergillosis  (IAGP)
Alzheimer's disease  (IAGP,IEP)
Aneurysm  (IAGP)
aortic valve insufficiency  (IAGP)
Arterial Thrombosis  (IMP)
aspergillosis  (ISO)
asthma  (IAGP)
atopic dermatitis  (IAGP)
autoimmune thyroiditis  (IAGP)
Bacteremia  (IAGP)
bacterial infectious disease  (IAGP)
bacterial pneumonia  (IAGP)
bacterial vaginosis  (IAGP)
Behcet's disease  (IAGP,IEP)
bipolar disorder  (IAGP)
Birth Weight  (EXP)
Brain Injuries  (ISO)
bronchiectasis  (IEP)
bronchiolitis obliterans  (IAGP)
bronchopneumonia  (IEP)
bronchopulmonary dysplasia  (IAGP)
Chagas Cardiomyopathy  (IAGP)
Chemotherapy-Induced Febrile Neutropenia  (IAGP)
chorioamnionitis  (IAGP)
Chronic Hepatitis B  (IAGP)
Chronic Hepatitis C  (IAGP)
chronic obstructive pulmonary disease  (IAGP,IEP)
Chronic Rhinosinusitis  (IEP)
coccidioidomycosis  (IEP)
common variable immunodeficiency  (IAGP)
coronary restenosis  (IAGP)
Coronavirus infectious disease  (IAGP)
Crohn's disease  (IAGP)
cryptococcal meningitis  (IAGP)
cryptosporidiosis  (IAGP)
cystic fibrosis  (IAGP,IEP)
Cytomegalovirus Infections  (IAGP)
dermatomyositis  (IAGP)
Diabetic Foot  (IEP)
Diffuse Panbronchiolitis  (IAGP)
disease by infectious agent  (EXP,IAGP)
end stage renal disease  (IAGP)
Familial Thoracic Aortic Aneurysm 8  (IAGP)
fungal infectious disease  (IAGP)
gestational diabetes  (EXP)
Hashimoto Disease  (IAGP)
hemolytic-uremic syndrome  (IMP)
hepatitis B  (IAGP)
hepatitis C  (IAGP)
hepatocellular carcinoma  (IAGP,IEP)
herpes simplex  (IAGP,IDA,IEP)
human immunodeficiency virus infectious disease  (EXP,IAGP)
Intestinal Reperfusion Injury  (IAGP)
invasive aspergillosis  (IAGP)
Invasive Pulmonary Aspergillosis  (IDA)
juvenile rheumatoid arthritis  (IEP)
Kartagener syndrome  (IAGP)
Kawasaki disease  (IAGP,ISO)
Legionnaires' disease  (IEP)
lepromatous leprosy  (IAGP)
leptospirosis  (IEP)
liver cirrhosis  (IAGP)
liver disease  (IAGP)
lung cancer  (IAGP)
lupus nephritis  (IAGP)
Mannose-Binding Protein Deficiency  (EXP,IAGP)
Myocardial Reperfusion Injury  (IMP)
Nasal Polyps  (IEP)
newborn respiratory distress syndrome  (IEP)
obesity  (IAGP)
otitis media  (IAGP)
ovarian cancer  (IAGP,IEP)
panic disorder  (IAGP)
pemphigus  (IEP)
peripheral nervous system disease  (EXP)
peripheral vascular disease  (IAGP)
Plasmodium falciparum malaria  (IAGP)
Pneumococcal Pneumonia  (IAGP)
pneumonia  (IEP)
polymyalgia rheumatica  (IAGP)
Premature Birth  (EXP)
primary open angle glaucoma  (IEP)
Pseudomonas Infections  (IEP)
psoriasis  (IAGP)
pulmonary fibrosis  (IAGP)
pulmonary tuberculosis  (IAGP)
Reperfusion Injury  (IDA,ISO)
respiratory allergy  (IAGP)
respiratory failure  (IAGP)
Respiratory Tract Infections  (IAGP,IEP)
rhinitis  (IAGP)
sensorineural hearing loss  (IAGP)
Sepsis  (IAGP)
Smoke Inhalation Injury  (IDA)
Spontaneous Abortions  (IAGP)
systemic lupus erythematosus  (IAGP)
temporal arteritis  (IAGP)
thrombocytopenia  (IAGP)
toxic shock syndrome  (IAGP)
type 1 diabetes mellitus  (IAGP)
Varicose Ulcer  (IEP)
Vaso-occlusive Crisis  (IAGP)
visceral leishmaniasis  (IAGP,IEP)
vitiligo  (IAGP)
vulvovaginal candidiasis  (IAGP)
Yin Deficiency  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-amphetamine  (ISO)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP)
all-trans-retinol  (EXP)
ammonium chloride  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
beta-carotene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
buspirone  (ISO)
buta-1,3-diene  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
cerium trichloride  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
dioxygen  (EXP)
endosulfan  (EXP)
flutamide  (ISO)
furan  (ISO)
glafenine  (ISO)
hexadecanoic acid  (EXP)
lanthanum trichloride  (EXP)
Lasiocarpine  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
metam  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (ISO)
parathion  (ISO)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorohexanoic acid  (EXP)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
senecionine  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. MBL2 gene polymorphisms protect against development of thrombocytopenia associated with severe dengue phenotype. Acioli-Santos B, etal., Hum Immunol. 2008 Feb;69(2):122-8. doi: 10.1016/j.humimm.2008.01.005. Epub 2008 Feb 12.
2. Relation among mannose-binding lectin 2 genotype, beta-cell autoantibodies, and risk for type 1 diabetes in Finnish children. Aittoniemi J, etal., Hum Immunol. 2008 Feb;69(2):108-11. doi: 10.1016/j.humimm.2008.01.007. Epub 2008 Feb 20.
3. Genotypes of the mannan-binding lectin gene and susceptibility to visceral leishmaniasis and clinical complications. Alonso DP, etal., J Infect Dis. 2007 Apr 15;195(8):1212-7. Epub 2007 Mar 5.
4. Mannan-binding lectin MBL2 gene polymorphism in chronic hepatitis C: association with the severity of liver fibrosis and response to interferon therapy. Alves Pedroso ML, etal., Clin Exp Immunol. 2008 May;152(2):258-64. doi: 10.1111/j.1365-2249.2008.03614.x. Epub 2008 Mar 10.
5. Mannose-binding lectin serum levels are low in persons with clinically active coccidioidomycosis. Ampel NM, etal., Mycopathologia. 2009 Apr;167(4):173-80. Epub 2008 Dec 14.
6. Polymorphisms in immunoregulatory genes and the risk of histologic chorioamnionitis in Caucasoid women: a case control study. Annells MF, etal., BMC Pregnancy Childbirth. 2005 Feb 21;5(1):4.
7. Mannan-binding lectin deficiency in pediatric patients with inflammatory bowel disease. Bak-Romaniszyn L, etal., Scand J Gastroenterol. 2011 Oct;46(10):1275-8. doi: 10.3109/00365521.2011.594087. Epub 2011 Jun 27.
8. The polymorphisms of the MBL2 and MIF genes associated with Pediatric Cochlear Implant Patients. Baysal E, etal., Int J Pediatr Otorhinolaryngol. 2013 Mar;77(3):338-40. doi: 10.1016/j.ijporl.2012.11.020. Epub 2012 Dec 14.
9. Polymorphisms in the mannose-binding lectin gene as determinants of age-defined risk of coronary artery lesions in Kawasaki disease. Biezeveld MH, etal., Arthritis Rheum. 2006 Jan;54(1):369-76.
10. Association of the wild-type A/A genotype of MBL2 codon 54 with asthma in a North Indian population. Birbian N, etal., Dis Markers. 2012;32(5):301-8. doi: 10.3233/DMA-2012-0892.
11. Epidemiology of chronic wound patients and relation to serum levels of mannan-binding lectin. Bitsch M, etal., Acta Derm Venereol. 2009 Nov;89(6):607-11. doi: 10.2340/00015555-0730.
12. Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms. Cakmak BC, etal., Pediatr Int. 2012 Dec;54(6):863-8. doi: 10.1111/j.1442-200X.2012.03714.x. Epub 2012 Nov 21.
13. Role played by human mannose-binding lectin polymorphisms in pulmonary tuberculosis. Capparelli R, etal., J Infect Dis. 2009 Mar 1;199(5):666-72.
14. Prevalence of atopic symptoms among blood donor carriers of mannose-binding lectin variant alleles. Cardinale F, etal., Int J Immunopathol Pharmacol. 2008 Jul-Sep;21(3):735-8.
15. Deficient serum mannose-binding lectin levels and MBL2 polymorphisms increase the risk of single and recurrent Cryptosporidium infections in young children. Carmolli M, etal., J Infect Dis. 2009 Nov 15;200(10):1540-7. doi: 10.1086/606013.
16. High polymorphism of the MBL2 gene in patients with atopic dermatitis. Carrera MC, etal., Ann Allergy Asthma Immunol. 2010 Jul;105(1):39-42. doi: 10.1016/j.anai.2010.03.017.
17. L-ficolin (ficolin-2) insufficiency is associated with combined allergic and infectious respiratory disease in children. Cedzynski M, etal., Mol Immunol. 2009 Dec;47(2-3):415-9. Epub 2009 Sep 19.
18. Influence of mannose-binding lectin gene polymorphisms on the invasiveness of cytomegalovirus disease after solid organ transplantation. Cervera C, etal., Transplant Proc. 2009 Jul-Aug;41(6):2259-61.
19. Mannose-binding lectin polymorphisms and recurrent respiratory tract infection in Chinese children. Chen J, etal., Eur J Pediatr. 2009 Nov;168(11):1305-13. Epub 2009 Jan 24.
20. Modulating effects of mannose binding lectin genotype on arterial stiffness in children after Kawasaki disease. Cheung YF, etal., Pediatr Res. 2004 Oct;56(4):591-6. Epub 2004 Aug 4.
21. Mannose-binding lectin in chronic hepatitis B virus infection. Chong WP, etal., Hepatology. 2005 Nov;42(5):1037-45. doi: 10.1002/hep.20891.
22. Mannose-binding lectin-2 genotypes and recurrent late pregnancy losses. Christiansen OB, etal., Hum Reprod. 2009 Feb;24(2):291-9. doi: 10.1093/humrep/den377. Epub 2008 Oct 16.
23. Resistance of MBL gene-knockout mice to experimental systemic aspergillosis. Clemons KV, etal., Immunol Lett. 2010 Feb 16;128(2):105-7. doi: 10.1016/j.imlet.2009.12.021. Epub 2010 Jan 12.
24. Mannose-binding lectin gene polymorphisms as a susceptibility factor for chronic necrotizing pulmonary aspergillosis. Crosdale DJ, etal., J Infect Dis. 2001 Sep 1;184(5):653-6. Epub 2001 Jul 24.
25. Increased serum complement component 3 and mannose-binding lectin levels in adult Chinese patients with chronic rhinosinusitis. Cui YH, etal., Rhinology. 2009 Jun;47(2):187-91.
26. Mannan-binding lectin and ficolin deposition in skin lesions of pemphigus. de Messias-Reason IJ, etal., Arch Dermatol Res. 2011 Sep;303(7):521-5. doi: 10.1007/s00403-011-1132-1. Epub 2011 Feb 16.
27. The mannose-binding lectin-pathway is involved in complement activation in the course of renal ischemia-reperfusion injury. de Vries B, etal., Am J Pathol. 2004 Nov;165(5):1677-88.
28. Mannose-binding lectin deficiency is associated with early onset of polyarticular juvenile rheumatoid arthritis: a cohort study. Dolman KM, etal., Arthritis Res Ther. 2008;10(2):R32. doi: 10.1186/ar2386. Epub 2008 Mar 11.
29. Serum levels and H/L gene polymorphism of mannose-binding lectin in primary open angle glaucoma. Dursun O, etal., Curr Eye Res. 2012 Mar;37(3):212-7. doi: 10.3109/02713683.2011.639124.
30. Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. Dwivedi M, etal., Br J Dermatol. 2009 Jul;161(1):63-9. doi: 10.1111/j.1365-2133.2009.09140.x. Epub 2009 Apr 16.
31. Mannose-binding lectin in chronic hepatitis C in children. Dzwonek AB, etal., Scand J Gastroenterol. 2015;50(10):1276-84. doi: 10.3109/00365521.2015.1006673. Epub 2015 May 8.
32. Mannose-binding lectin genotypes in susceptibility to community-acquired pneumonia. Endeman H, etal., Chest. 2008 Dec;134(6):1135-40. Epub 2008 Jul 18.
33. Association of mannose-binding lectin-2 gene polymorphism with the development of hepatitis C-induced hepatocellular carcinoma. Eurich D, etal., Liver Int. 2011 Aug;31(7):1006-12. doi: 10.1111/j.1478-3231.2011.02522.x. Epub 2011 Apr 15.
34. Protection from inflammatory disease in insulin resistance: the role of mannan-binding lectin. Fernandez-Real JM, etal., Diabetologia. 2006 Oct;49(10):2402-11. Epub 2006 Aug 29.
35. Mannose-binding lectin is present in the infected airway: a possible pulmonary defence mechanism. Fidler KJ, etal., Thorax. 2009 Feb;64(2):150-5. Epub 2008 Nov 6.
36. Association of MBL2 gene exon 1 variants with autoimmune thyroid disease in Brazilian patients. Filho CB, etal., Int J Immunogenet. 2012 Aug;39(4):357-61. doi: 10.1111/j.1744-313X.2012.01102.x. Epub 2012 Feb 23.
37. Bipolar and panic disorders may be associated with hereditary defects in the innate immune system. Foldager L, etal., J Affect Disord. 2014 Aug;164:148-54. doi: 10.1016/j.jad.2014.04.017. Epub 2014 Apr 19.
38. Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus. Font J, etal., Rheumatology (Oxford). 2007 Jan;46(1):76-80. Epub 2006 Jun 26.
39. Mannan-binding lectin modulates the response to HSV-2 infection. Gadjeva M, etal., Clin Exp Immunol. 2004 Nov;138(2):304-11.
40. Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults. Garcia-Laorden MI, etal., J Allergy Clin Immunol. 2008 Aug;122(2):368-74, 374.e1-2. Epub 2008 Jun 25.
41. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. Garred P, etal., J Clin Invest. 1999 Aug;104(4):431-7.
42. Complement defects in patients with chronic rhinosinusitis. Gaunsbaek MQ, etal., PLoS One. 2012;7(11):e47383. doi: 10.1371/journal.pone.0047383. Epub 2012 Nov 7.
43. Mannose-binding lectin gene polymorphism, vulvovaginal candidiasis, and bacterial vaginosis. Giraldo PC, etal., Obstet Gynecol. 2007 May;109(5):1123-8.
44. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
45. Mannose-binding lectin gene polymorphism is a modulating factor in repeated respiratory infections. Gomi K, etal., Chest. 2004 Jul;126(1):95-9.
46. Polymorphisms in the mannose binding lectin-2 gene and acute respiratory distress syndrome. Gong MN, etal., Crit Care Med. 2007 Jan;35(1):48-56.
47. Development of pulmonary abnormalities in patients with common variable immunodeficiency: associations with clinical and immunologic factors. Gregersen S, etal., Ann Allergy Asthma Immunol. 2010 Jun;104(6):503-10.
48. Genetic variants of mannose-binding lectin 2 gene influence progression and prognosis of patients with hepatitis B virus infection in China. Gu X, etal., Clin Res Hepatol Gastroenterol. 2016 Nov;40(5):614-621. doi: 10.1016/j.clinre.2015.12.015. Epub 2016 Feb 5.
49. Association of hepatitis C virus infection and liver fibrosis severity with the variants alleles of MBL2 gene in a Brazilian population. Halla MC, etal., Hum Immunol. 2010 Sep;71(9):883-7. doi: 10.1016/j.humimm.2010.05.021. Epub 2010 Jun 1.
50. A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco. Hamdi S, etal., Infect Genet Evol. 2013 Jan;13:162-7. doi: 10.1016/j.meegid.2012.09.002. Epub 2012 Sep 18.
51. Deficient mannose-binding lectin-mediated complement activation despite mannose-binding lectin-sufficient genotypes in an outbreak of Legionella pneumophila pneumonia. Herpers BL, etal., Hum Immunol. 2009 Feb;70(2):125-9. doi: 10.1016/j.humimm.2008.11.002. Epub 2008 Dec 13.
52. Therapeutic role for mannose-binding lectin in cigarette smoke-induced lung inflammation? Evidence from a murine model. Hodge S, etal., Am J Respir Cell Mol Biol. 2010 Feb;42(2):235-42. Epub 2009 May 1.
53. Mannose-binding lectin variant associated with severe malaria in young African children. Holmberg V, etal., Microbes Infect. 2008 Apr;10(4):342-8. doi: 10.1016/j.micinf.2007.12.008. Epub 2007 Dec 28.
54. Association between mannose-binding lectin gene polymorphism and pediatric cytomegalovirus infection. Hu Y, etal., Viral Immunol. 2010 Aug;23(4):443-7.
55. Serum mannose-binding lectin levels are decreased in behcet's disease and associated with disease severity. Inanc N, etal., J Rheumatol. 2005 Feb;32(2):287-91.
56. Mannose-binding lectin in severe acute respiratory syndrome coronavirus infection. Ip WK, etal., J Infect Dis. 2005 May 15;191(10):1697-704. Epub 2005 Apr 11.
57. Mannose-binding lectin variant alleles and HLA-DR4 alleles are associated with giant cell arteritis. Jacobsen S, etal., J Rheumatol. 2002 Oct;29(10):2148-53.
58. Elevated levels of mannan-binding lectin (MBL) and eosinophilia in patients of bronchial asthma with allergic rhinitis and allergic bronchopulmonary aspergillosis associate with a novel intronic polymorphism in MBL. Kaur S, etal., Clin Exp Immunol. 2006 Mar;143(3):414-9.
59. Protective role of mannan-binding lectin in a murine model of invasive pulmonary aspergillosis. Kaur S, etal., Clin Exp Immunol. 2007 May;148(2):382-9. Epub 2007 Mar 5.
60. Association of MBL2 polymorphism with asthma after bronchiolitis in infancy. Koponen P, etal., Pediatr Int. 2012 Oct;54(5):619-22. doi: 10.1111/j.1442-200X.2012.03651.x. Epub 2012 Jul 19.
61. Mannose-binding lectin MBL2 gene polymorphisms and outcome of hepatitis C virus-infected patients. Koutsounaki E, etal., J Clin Immunol. 2008 Sep;28(5):495-500. doi: 10.1007/s10875-008-9201-8. Epub 2008 Jul 1.
62. Mannan-binding lectin in human serum, cerebrospinal fluid and brain tissue and its role in Alzheimer's disease. Lanzrein AS, etal., Neuroreport. 1998 May 11;9(7):1491-5.
63. Infections during induction therapy of childhood acute lymphoblastic leukemia--no association to mannose-binding lectin deficiency. Lausen B, etal., Eur J Haematol. 2006 Jun;76(6):481-7. Epub 2006 Feb 23.
64. Mannose-Binding Lectin Gene Polymorphism Contributes to Recurrence of Infective Exacerbation in COPD Patients. Lin CL, etal., Chest. 2010 Aug 5.
65. Impact of mannose-binding lectin 2 polymorphism on the risk of hepatocellular carcinoma: a case-control study in Chinese Han population. Lin Y, etal., J Epidemiol. 2015;25(5):387-91. doi: 10.2188/jea.JE20140194. Epub 2015 Mar 14.
66. Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. Litzman J, etal., Clin Exp Immunol. 2008 Sep;153(3):324-30. Epub 2008 Jul 11.
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PMID:25060516   PMID:25083730   PMID:25105751   PMID:25119337   PMID:25143944   PMID:25148801   PMID:25167768   PMID:25170052   PMID:25178872   PMID:25281004   PMID:25312983   PMID:25313559  
PMID:25323207   PMID:25326706   PMID:25341475   PMID:25350077   PMID:25579818   PMID:25599785   PMID:25627044   PMID:25693844   PMID:25725598   PMID:25764115   PMID:25803807   PMID:25818534  
PMID:25830474   PMID:25843194   PMID:25857450   PMID:25887173   PMID:25900955   PMID:25969530   PMID:26136138   PMID:26153116   PMID:26207622   PMID:26212019   PMID:26377840   PMID:26382056  
PMID:26429318   PMID:26433879   PMID:26506729   PMID:26603976   PMID:26608926   PMID:26613217   PMID:26684757   PMID:26740328   PMID:26795763   PMID:26810288   PMID:26823854   PMID:26841934  
PMID:26924055   PMID:27104295   PMID:27124763   PMID:27136459   PMID:27141819   PMID:27180198   PMID:27183610   PMID:27223255   PMID:27351742   PMID:27404661   PMID:27424141   PMID:27495980  
PMID:27590640   PMID:27619685   PMID:27624657   PMID:27755461   PMID:27798151   PMID:27812036   PMID:27820718   PMID:27856789   PMID:27876780   PMID:27894112   PMID:27911110   PMID:27940354  
PMID:27982280   PMID:28032346   PMID:28056798   PMID:28189510   PMID:28403045   PMID:28405017   PMID:28408790   PMID:28558032   PMID:28558668   PMID:28576308   PMID:28649744   PMID:28706259  
PMID:28784323   PMID:28898115   PMID:29053425   PMID:29120581   PMID:29298876   PMID:29314753   PMID:29439276   PMID:29563915   PMID:29627640   PMID:29653582   PMID:29703608   PMID:29775825  
PMID:29807983   PMID:29850562   PMID:29886784   PMID:29902796   PMID:30015228   PMID:30021884   PMID:30111885   PMID:30290772   PMID:30378749   PMID:30482213   PMID:30482481   PMID:30526728  
PMID:30552328   PMID:30710628   PMID:30907154   PMID:30967869   PMID:30999018   PMID:31001794   PMID:31012247   PMID:31139182   PMID:31332999   PMID:31411530   PMID:31446139   PMID:31549610  
PMID:31578522   PMID:31703823   PMID:31706269   PMID:31941497   PMID:32041782   PMID:32119194   PMID:32269261   PMID:32279906   PMID:32296183   PMID:32349793   PMID:32616614   PMID:32635881  
PMID:32721184   PMID:32759297   PMID:32811420   PMID:32894076   PMID:32894840   PMID:32913345   PMID:33013845   PMID:33146461   PMID:33180387   PMID:33262767   PMID:33270011   PMID:33362211  
PMID:33515713   PMID:33627253   PMID:33679736   PMID:33724604   PMID:33961781   PMID:34391418   PMID:34480982   PMID:34570692   PMID:34628288   PMID:34747274   PMID:34907799   PMID:35102342  
PMID:35115241   PMID:35150914   PMID:35195918   PMID:35196173   PMID:35291755   PMID:35301180   PMID:35331599   PMID:35388043   PMID:35449337   PMID:35598129   PMID:35672941   PMID:35796020  
PMID:35818159   PMID:35949104   PMID:36012556   PMID:36032172   PMID:36100602   PMID:36257838   PMID:36318338   PMID:36371667   PMID:36688959   PMID:36994777   PMID:37051252   PMID:37121343  
PMID:37138871   PMID:37204457   PMID:37231213   PMID:37558798   PMID:37852260   PMID:38167099  


Genomics

Comparative Map Data
MBL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381052,765,380 - 52,772,784 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1052,765,380 - 52,772,784 (-)Ensemblhg38GRCh38
GRCh371054,525,140 - 54,532,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361054,195,146 - 54,201,466 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341054,195,146 - 54,201,466NCBI
Celera1047,788,072 - 47,794,392 (-)NCBICelera
Cytogenetic Map10q21.1NCBI
HuRef1048,503,748 - 48,510,068 (-)NCBIHuRef
CHM1_11054,806,939 - 54,813,257 (-)NCBICHM1_1
T2T-CHM13v2.01053,612,365 - 53,619,761 (-)NCBIT2T-CHM13v2.0
Mbl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391930,210,306 - 30,217,087 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1930,210,342 - 30,217,087 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381930,232,906 - 30,239,687 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1930,232,942 - 30,239,687 (+)Ensemblmm10GRCm38
MGSCv371930,307,447 - 30,314,172 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361930,298,954 - 30,305,679 (+)NCBIMGSCv36mm8
Celera1931,010,980 - 31,017,684 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1925.14NCBI
Mbl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81237,429,873 - 237,465,567 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1237,429,973 - 237,437,546 (+)EnsemblGRCr8
mRatBN7.21228,016,439 - 228,024,736 (+)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx1236,419,619 - 236,424,489 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01243,349,309 - 243,354,179 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01236,171,876 - 236,176,773 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01248,435,069 - 248,442,669 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1248,723,397 - 248,729,962 (+)Ensemblrn6Rnor6.0
Rnor_5.01255,681,084 - 255,688,683 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41233,978,931 - 233,983,824 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1225,160,772 - 225,165,665 (+)NCBICelera
RGSC_v3.11234,140,682 - 234,147,846 (+)NCBI
Cytogenetic Map1q52NCBI
Mbl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554257,702,137 - 7,709,006 (-)Ensembl
ChiLan1.0NW_0049554257,704,371 - 7,708,951 (-)NCBIChiLan1.0ChiLan1.0
MBL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2865,063,616 - 65,068,335 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11065,070,156 - 65,073,657 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01049,401,364 - 49,409,328 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11051,537,129 - 51,543,041 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1051,527,758 - 51,543,432 (-)EnsemblpanPan2panpan1.1
MBL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1429,419,886 - 29,424,377 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha429,544,300 - 29,548,802 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0429,721,980 - 29,726,589 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl429,721,981 - 29,726,540 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1429,591,559 - 29,596,084 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0429,794,211 - 29,798,774 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0430,148,194 - 30,152,765 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
MBL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1497,102,823 - 97,108,083 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11497,103,926 - 97,107,635 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214105,632,322 - 105,636,031 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MBL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1978,389,534 - 78,394,753 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl978,389,947 - 78,396,079 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604839,340,958 - 39,345,030 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mbl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479110,881,268 - 10,886,297 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462479110,881,319 - 10,886,294 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in MBL2
112 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) single nucleotide variant Mannose-binding lectin deficiency [RCV000015424]|not provided [RCV002274880]|not specified [RCV001777138] Chr10:52771475 [GRCh38]
Chr10:52771475..52771476 [GRCh38]
Chr10:54531235 [GRCh37]
Chr10:54531235..54531236 [GRCh37]
Chr10:10q21.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) single nucleotide variant Mannose-binding lectin deficiency [RCV000015425]|not provided [RCV001642227]|not specified [RCV000455297] Chr10:52771466 [GRCh38]
Chr10:52771466..52771467 [GRCh38]
Chr10:54531226 [GRCh37]
Chr10:54531226..54531227 [GRCh37]
Chr10:10q21.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) single nucleotide variant Cystic fibrosis [RCV000991134]|Mannose-binding lectin deficiency [RCV000015426]|not provided [RCV002274881] Chr10:52771482 [GRCh38]
Chr10:52771482..52771483 [GRCh38]
Chr10:54531242 [GRCh37]
Chr10:54531242..54531243 [GRCh37]
Chr10:10q21.1		 pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
GRCh38/hg38 10q21.1(chr10:51986860-52975790)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053520]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053520]|See cases [RCV000053520] Chr10:51986860..52975790 [GRCh38]
Chr10:53746620..54735550 [GRCh37]
Chr10:53416626..54405556 [NCBI36]
Chr10:10q21.1		 benign
NM_000242.2(MBL2):c.529C>T (p.Leu177Phe) single nucleotide variant Malignant melanoma [RCV000068975] Chr10:52768355 [GRCh38]
Chr10:54528115 [GRCh37]
Chr10:54198121 [NCBI36]
Chr10:10q21.1		 not provided
NM_000242.2(MBL2):c.417C>T (p.Phe139=) single nucleotide variant Malignant melanoma [RCV000068976] Chr10:52768467 [GRCh38]
Chr10:54528227 [GRCh37]
Chr10:54198233 [NCBI36]
Chr10:10q21.1		 not provided
NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr) single nucleotide variant Mannose-binding lectin deficiency [RCV001332301]|not provided [RCV004692556] Chr10:52768435 [GRCh38]
Chr10:54528195 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1 copy number loss See cases [RCV000137735] Chr10:50967523..53709183 [GRCh38]
Chr10:52727283..55468943 [GRCh37]
Chr10:52397289..55138949 [NCBI36]
Chr10:10q11.23-21.1		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
NM_001378373.1(MBL2):c.*1275T>C single nucleotide variant Mannose-binding lectin deficiency [RCV000320760]|not provided [RCV002510841] Chr10:52766862 [GRCh38]
Chr10:54526622 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*2067C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000344465] Chr10:52766070 [GRCh38]
Chr10:54525830 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.483T>C (p.Ser161=) single nucleotide variant MBL2-related disorder [RCV003950009]|Mannose-binding lectin deficiency [RCV000268459] Chr10:52768401 [GRCh38]
Chr10:54528161 [GRCh37]
Chr10:10q21.1		 likely benign|uncertain significance
NM_001378373.1(MBL2):c.*1287C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000284430] Chr10:52766850 [GRCh38]
Chr10:54526610 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*675C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000369938] Chr10:52767462 [GRCh38]
Chr10:54527222 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1498C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000269194] Chr10:52766639 [GRCh38]
Chr10:54526399 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1136A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000285475] Chr10:52767001 [GRCh38]
Chr10:54526761 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.378C>G (p.Leu126=) single nucleotide variant Mannose-binding lectin deficiency [RCV000323543]|not provided [RCV004705170]|not specified [RCV000454838] Chr10:52768506 [GRCh38]
Chr10:54528266 [GRCh37]
Chr10:10q21.1		 benign|likely benign
NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu) single nucleotide variant MBL2-related disorder [RCV003417972]|Mannose-binding lectin deficiency [RCV000373660]|not specified [RCV004935131] Chr10:52770672 [GRCh38]
Chr10:54530432 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1995del deletion Mannose-binding lectin deficiency [RCV000305946] Chr10:52766142 [GRCh38]
Chr10:54525902 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2219A>C single nucleotide variant Mannose-binding lectin deficiency [RCV000289598]|not provided [RCV004705164] Chr10:52765918 [GRCh38]
Chr10:54525678 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*447G>C single nucleotide variant Mannose-binding lectin deficiency [RCV000307052] Chr10:52767690 [GRCh38]
Chr10:54527450 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2048A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000290537]|not provided [RCV004706763] Chr10:52766089 [GRCh38]
Chr10:54525849 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*1452A>T single nucleotide variant Mannose-binding lectin deficiency [RCV000328982] Chr10:52766685 [GRCh38]
Chr10:54526445 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1569A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000332412] Chr10:52766568 [GRCh38]
Chr10:54526328 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1879A>C single nucleotide variant Mannose-binding lectin deficiency [RCV000404555]|not provided [RCV004705167] Chr10:52766258 [GRCh38]
Chr10:54526018 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*1691G>A single nucleotide variant Mannose-binding lectin deficiency [RCV000277266]|not provided [RCV004705169] Chr10:52766446 [GRCh38]
Chr10:54526206 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*1695G>T single nucleotide variant Mannose-binding lectin deficiency [RCV000312486]|not provided [RCV003417970] Chr10:52766442 [GRCh38]
Chr10:54526202 [GRCh37]
Chr10:10q21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378373.1(MBL2):c.*2450A>T single nucleotide variant Mannose-binding lectin deficiency [RCV000334131]|not provided [RCV003417969] Chr10:52765687 [GRCh38]
Chr10:54525447 [GRCh37]
Chr10:10q21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378373.1(MBL2):c.*1819T>C single nucleotide variant Mannose-binding lectin deficiency [RCV000357130] Chr10:52766318 [GRCh38]
Chr10:54526078 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*99T>G single nucleotide variant Mannose-binding lectin deficiency [RCV000358518] Chr10:52768038 [GRCh38]
Chr10:54527798 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1429A>C single nucleotide variant Mannose-binding lectin deficiency [RCV000383002] Chr10:52766708 [GRCh38]
Chr10:54526468 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1711T>G single nucleotide variant Mannose-binding lectin deficiency [RCV000261947]|not provided [RCV004692907] Chr10:52766426 [GRCh38]
Chr10:54526186 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.-9-5C>G single nucleotide variant Mannose-binding lectin deficiency [RCV000294457]|not provided [RCV004692910] Chr10:52771649 [GRCh38]
Chr10:54531409 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1135A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000335836]|not provided [RCV004692908] Chr10:52767002 [GRCh38]
Chr10:54526762 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2033G>A single nucleotide variant Mannose-binding lectin deficiency [RCV000408206] Chr10:52766104 [GRCh38]
Chr10:54525864 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2727G>T single nucleotide variant Mannose-binding lectin deficiency [RCV000263903] Chr10:52765410 [GRCh38]
Chr10:54525170 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*865A>C single nucleotide variant Mannose-binding lectin deficiency [RCV000315219]|not provided [RCV004692909] Chr10:52767272 [GRCh38]
Chr10:52767272..52767273 [GRCh38]
Chr10:54527032 [GRCh37]
Chr10:54527032..54527033 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2477C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000387675] Chr10:52765660 [GRCh38]
Chr10:54525420 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2388T>G single nucleotide variant Mannose-binding lectin deficiency [RCV000388622]|not provided [RCV004706762] Chr10:52765749 [GRCh38]
Chr10:52765749..52765750 [GRCh38]
Chr10:54525509 [GRCh37]
Chr10:54525509..54525510 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*1857A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000297618]|not provided [RCV004705168] Chr10:52766280 [GRCh38]
Chr10:54526040 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*2702G>A single nucleotide variant Mannose-binding lectin deficiency [RCV000316810] Chr10:52765435 [GRCh38]
Chr10:54525195 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1088C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000281920] Chr10:52767049 [GRCh38]
Chr10:54526809 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2040G>T single nucleotide variant Mannose-binding lectin deficiency [RCV000340808]|not provided [RCV004705165] Chr10:52766097 [GRCh38]
Chr10:54525857 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*1913C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000341830]|not provided [RCV004705166] Chr10:52766224 [GRCh38]
Chr10:54525984 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*1134C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000391262] Chr10:52767003 [GRCh38]
Chr10:54526763 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*324C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000366361] Chr10:52767813 [GRCh38]
Chr10:54527573 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1694G>T single nucleotide variant Mannose-binding lectin deficiency [RCV000367075]|not provided [RCV003417971] Chr10:52766443 [GRCh38]
Chr10:54526203 [GRCh37]
Chr10:10q21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378373.1(MBL2):c.*289C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000271799] Chr10:52767848 [GRCh38]
Chr10:54527608 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2470A>C single nucleotide variant Mannose-binding lectin deficiency [RCV000274421] Chr10:52765667 [GRCh38]
Chr10:54525427 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1144A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000379963] Chr10:52766993 [GRCh38]
Chr10:54526753 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1568C>T single nucleotide variant Mannose-binding lectin deficiency [RCV000363718] Chr10:52766569 [GRCh38]
Chr10:54526329 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2066G>T single nucleotide variant Mannose-binding lectin deficiency [RCV000385044] Chr10:52766071 [GRCh38]
Chr10:54525831 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*953T>C single nucleotide variant Mannose-binding lectin deficiency [RCV000350185] Chr10:52767184 [GRCh38]
Chr10:54526944 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*674A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000405650] Chr10:52767463 [GRCh38]
Chr10:54527223 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu) single nucleotide variant Mannose-binding lectin deficiency [RCV000320152] Chr10:52771470 [GRCh38]
Chr10:54531230 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*282A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000322365] Chr10:52767855 [GRCh38]
Chr10:54527615 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*937A>G single nucleotide variant Mannose-binding lectin deficiency [RCV000391264] Chr10:52767200 [GRCh38]
Chr10:54526960 [GRCh37]
Chr10:10q21.1		 uncertain significance
NC_000010.11:g.52771701G>A single nucleotide variant Mannose-binding lectin deficiency [RCV000390620]|not provided [RCV004705498] Chr10:52771701 [GRCh38]
Chr10:54531461 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala) single nucleotide variant Mannose-binding lectin deficiency [RCV000374843]|not specified [RCV004021476] Chr10:52771473 [GRCh38]
Chr10:54531233 [GRCh37]
Chr10:10q21.1		 likely benign|uncertain significance
GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199)x3 copy number gain See cases [RCV000449275] Chr10:52752503..57406199 [GRCh37]
Chr10:10q11.23-21.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001378373.1(MBL2):c.132C>T (p.Asn44=) single nucleotide variant Mannose-binding lectin deficiency [RCV001104675]|not provided [RCV000872157]|not specified [RCV000456080] Chr10:52771504 [GRCh38]
Chr10:54531264 [GRCh37]
Chr10:10q21.1		 benign|likely benign|uncertain significance
GRCh37/hg19 10q21.1(chr10:54107521-54790035)x3 copy number gain See cases [RCV000511532] Chr10:54107521..54790035 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter) single nucleotide variant Mannose-binding lectin deficiency [RCV005392373]|not provided [RCV000883897] Chr10:52768256 [GRCh38]
Chr10:54528016 [GRCh37]
Chr10:10q21.1		 likely benign|uncertain significance
GRCh37/hg19 10q21.1(chr10:54112284-54785799)x3 copy number gain not provided [RCV000749611] Chr10:54112284..54785799 [GRCh37]
Chr10:10q21.1		 benign
GRCh37/hg19 10q21.1(chr10:54524658-54531685)x1 copy number loss not provided [RCV000749613] Chr10:54524658..54531685 [GRCh37]
Chr10:10q21.1		 benign
GRCh37/hg19 10q21.1(chr10:54526622-54529130)x1 copy number loss not provided [RCV000749614] Chr10:54526622..54529130 [GRCh37]
Chr10:10q21.1		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1		 likely pathogenic
GRCh37/hg19 10q21.1(chr10:54276542-58024820)x1 copy number loss not provided [RCV000848495] Chr10:54276542..58024820 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10q21.1(chr10:53802602-55217542)x3 copy number gain not provided [RCV001006323] Chr10:53802602..55217542 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.303G>A (p.Pro101=) single nucleotide variant Mannose-binding lectin deficiency [RCV001104671] Chr10:52770671 [GRCh38]
Chr10:54530431 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.187+9T>C single nucleotide variant Mannose-binding lectin deficiency [RCV001104673] Chr10:52771440 [GRCh38]
Chr10:54531200 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2751A>C single nucleotide variant Mannose-binding lectin deficiency [RCV001102559] Chr10:52765386 [GRCh38]
Chr10:54525146 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.408C>T (p.Asn136=) single nucleotide variant Mannose-binding lectin deficiency [RCV001102752]|not provided [RCV004693597] Chr10:52768476 [GRCh38]
Chr10:54528236 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser) single nucleotide variant Mannose-binding lectin deficiency [RCV001105835] Chr10:52771527 [GRCh38]
Chr10:54531287 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.99T>G (p.Pro33=) single nucleotide variant Mannose-binding lectin deficiency [RCV001105836] Chr10:52771537 [GRCh38]
Chr10:54531297 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro) single nucleotide variant Mannose-binding lectin deficiency [RCV001105837] Chr10:52771610 [GRCh38]
Chr10:54531370 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.187+5G>A single nucleotide variant not provided [RCV000860532] Chr10:52771444 [GRCh38]
Chr10:54531204 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.226T>C (p.Leu76=) single nucleotide variant not provided [RCV000929779] Chr10:52770748 [GRCh38]
Chr10:54530508 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.187+8T>C single nucleotide variant not provided [RCV000875451] Chr10:52771441 [GRCh38]
Chr10:54531201 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.*2209T>C single nucleotide variant Mannose-binding lectin deficiency [RCV001104481] Chr10:52765928 [GRCh38]
Chr10:54525688 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser) single nucleotide variant Mannose-binding lectin deficiency [RCV001102750]|not provided [RCV000912398] Chr10:52768357 [GRCh38]
Chr10:54528117 [GRCh37]
Chr10:10q21.1		 benign|uncertain significance
NM_001378373.1(MBL2):c.*1252A>C single nucleotide variant Mannose-binding lectin deficiency [RCV001102664] Chr10:52766885 [GRCh38]
Chr10:54526645 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3		 pathogenic
NM_001378373.1(MBL2):c.*2129T>C single nucleotide variant Mannose-binding lectin deficiency [RCV001104483] Chr10:52766008 [GRCh38]
Chr10:54525768 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*966A>G single nucleotide variant Mannose-binding lectin deficiency [RCV001104578] Chr10:52767171 [GRCh38]
Chr10:54526931 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1839A>G single nucleotide variant Mannose-binding lectin deficiency [RCV001107891] Chr10:52766298 [GRCh38]
Chr10:54526058 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1743T>C single nucleotide variant Mannose-binding lectin deficiency [RCV001107892] Chr10:52766394 [GRCh38]
Chr10:54526154 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*3G>T single nucleotide variant MBL2-related disorder [RCV003906204]|Mannose-binding lectin deficiency [RCV001107982] Chr10:52768134 [GRCh38]
Chr10:54527894 [GRCh37]
Chr10:10q21.1		 likely benign|uncertain significance
NM_001378373.1(MBL2):c.249G>T (p.Gly83=) single nucleotide variant Mannose-binding lectin deficiency [RCV001104672] Chr10:52770725 [GRCh38]
Chr10:54530485 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2457G>C single nucleotide variant Mannose-binding lectin deficiency [RCV001104480] Chr10:52765680 [GRCh38]
Chr10:54525440 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser) single nucleotide variant Mannose-binding lectin deficiency [RCV001104674] Chr10:52771503 [GRCh38]
Chr10:54531263 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1448C>T single nucleotide variant Mannose-binding lectin deficiency [RCV001102663] Chr10:52766689 [GRCh38]
Chr10:54526449 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2648C>A single nucleotide variant Mannose-binding lectin deficiency [RCV001102560] Chr10:52765489 [GRCh38]
Chr10:54525249 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.549C>T (p.Phe183=) single nucleotide variant Mannose-binding lectin deficiency [RCV001102749] Chr10:52768335 [GRCh38]
Chr10:54528095 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2032C>T single nucleotide variant Mannose-binding lectin deficiency [RCV001107250] Chr10:52766105 [GRCh38]
Chr10:54525865 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*708G>A single nucleotide variant Mannose-binding lectin deficiency [RCV001107331] Chr10:52767429 [GRCh38]
Chr10:54527189 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro) single nucleotide variant Mannose-binding lectin deficiency [RCV001102751] Chr10:52768394 [GRCh38]
Chr10:54528154 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*783C>T single nucleotide variant Mannose-binding lectin deficiency [RCV001107330] Chr10:52767354 [GRCh38]
Chr10:54527114 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*366G>A single nucleotide variant Mannose-binding lectin deficiency [RCV001107332] Chr10:52767771 [GRCh38]
Chr10:54527531 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*7A>G single nucleotide variant Mannose-binding lectin deficiency [RCV001107981] Chr10:52768130 [GRCh38]
Chr10:54527890 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys) single nucleotide variant Mannose-binding lectin deficiency [RCV001107983]|not provided [RCV003992446] Chr10:52768151 [GRCh38]
Chr10:54527911 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.656A>T (p.Asp219Val) single nucleotide variant Mannose-binding lectin deficiency [RCV001107984]|not specified [RCV004032130] Chr10:52768228 [GRCh38]
Chr10:54527988 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys) single nucleotide variant Mannose-binding lectin deficiency [RCV001102748] Chr10:52768304 [GRCh38]
Chr10:54528064 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*2207G>A single nucleotide variant Mannose-binding lectin deficiency [RCV001104482] Chr10:52765930 [GRCh38]
Chr10:54525690 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.*1213C>T single nucleotide variant Mannose-binding lectin deficiency [RCV001104577] Chr10:52766924 [GRCh38]
Chr10:54526684 [GRCh37]
Chr10:10q21.1		 uncertain significance
NC_000010.10:g.(?_54011320)_(54530789_?)dup duplication Aortic aneurysm, familial thoracic 8 [RCV001323422] Chr10:54011320..54530789 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.101C>A (p.Ala34Glu) single nucleotide variant not specified [RCV004328869] Chr10:52771535 [GRCh38]
Chr10:54531295 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199) copy number gain not specified [RCV002052870] Chr10:52752503..57406199 [GRCh37]
Chr10:10q11.23-21.1		 uncertain significance
NM_001378373.1(MBL2):c.556A>C (p.Ile186Leu) single nucleotide variant not specified [RCV004147422] Chr10:52768328 [GRCh38]
Chr10:54528088 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.194G>C (p.Gly65Ala) single nucleotide variant MBL2-related disorder [RCV003936687]|not specified [RCV004225640] Chr10:52770780 [GRCh38]
Chr10:54530540 [GRCh37]
Chr10:10q21.1		 likely benign|uncertain significance
NM_001378373.1(MBL2):c.727G>A (p.Val243Ile) single nucleotide variant not specified [RCV004228064] Chr10:52768157 [GRCh38]
Chr10:54527917 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.518C>A (p.Ala173Asp) single nucleotide variant not specified [RCV004081157] Chr10:52768366 [GRCh38]
Chr10:54528126 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.212G>C (p.Gly71Ala) single nucleotide variant not specified [RCV004260910] Chr10:52770762 [GRCh38]
Chr10:54530522 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_001378373.1(MBL2):c.218dup (p.Gly74fs) duplication MBL2-related disorder [RCV003427917] Chr10:52770755..52770756 [GRCh38]
Chr10:54530515..54530516 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.450A>G (p.Lys150=) single nucleotide variant MBL2-related disorder [RCV003410657] Chr10:52768434 [GRCh38]
Chr10:54528194 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.726C>A (p.Ala242=) single nucleotide variant not provided [RCV003417393] Chr10:52768158 [GRCh38]
Chr10:54527918 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.118T>G (p.Ser40Ala) single nucleotide variant not provided [RCV003417394] Chr10:52771518 [GRCh38]
Chr10:54531278 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.703C>A (p.Pro235Thr) single nucleotide variant not specified [RCV004418948] Chr10:52768181 [GRCh38]
Chr10:54527941 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.544G>C (p.Ala182Pro) single nucleotide variant not specified [RCV004418947] Chr10:52768340 [GRCh38]
Chr10:54528100 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10q21.1(chr10:54459920-56080457)x1 copy number loss not specified [RCV003986854] Chr10:54459920..56080457 [GRCh37]
Chr10:10q21.1		 pathogenic
NM_001378373.1(MBL2):c.700G>A (p.Val234Ile) single nucleotide variant not specified [RCV004637752] Chr10:52768184 [GRCh38]
Chr10:54527944 [GRCh37]
Chr10:10q21.1		 likely benign
NM_001378373.1(MBL2):c.30_32del (p.Leu12del) deletion MBL2-related disorder [RCV004756851] Chr10:52771604..52771606 [GRCh38]
Chr10:54531364..54531366 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.34C>G (p.Leu12Val) single nucleotide variant not specified [RCV004942577] Chr10:52771602 [GRCh38]
Chr10:54531362 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.35T>G (p.Leu12Arg) single nucleotide variant not specified [RCV004942578] Chr10:52771601 [GRCh38]
Chr10:54531361 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.107T>C (p.Ile36Thr) single nucleotide variant not specified [RCV004942580] Chr10:52771529 [GRCh38]
Chr10:54531289 [GRCh37]
Chr10:10q21.1		 uncertain significance
GRCh37/hg19 10q11.23-21.2(chr10:51642201-62725062)x1 copy number loss not provided [RCV004819829] Chr10:51642201..62725062 [GRCh37]
Chr10:10q11.23-21.2		 uncertain significance
NM_001378373.1(MBL2):c.254C>G (p.Ser85Cys) single nucleotide variant Mannose-binding lectin deficiency [RCV005398357] Chr10:52770720 [GRCh38]
Chr10:54530480 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.108T>G (p.Ile36Met) single nucleotide variant not specified [RCV005371694] Chr10:52771528 [GRCh38]
Chr10:54531288 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.406A>T (p.Asn136Tyr) single nucleotide variant not specified [RCV005377775] Chr10:52768478 [GRCh38]
Chr10:54528238 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.265G>A (p.Gly89Arg) single nucleotide variant Mannose-binding lectin deficiency [RCV005398358] Chr10:52770709 [GRCh38]
Chr10:54530469 [GRCh37]
Chr10:10q21.1		 uncertain significance
NM_001378373.1(MBL2):c.605G>C (p.Arg202Thr) single nucleotide variant not specified [RCV005371692] Chr10:52768279 [GRCh38]
Chr10:54528039 [GRCh37]
Chr10:10q21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:919
Count of miRNA genes:609
Interacting mature miRNAs:679
Transcripts:ENST00000373968
Prediction methods:Miranda
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597183340GWAS1279414_Hmannose-binding protein C measurement QTL GWAS1279414 (human)1e-110mannose-binding protein C measurement105277146652771467Human
597183341GWAS1279415_Hmannose-binding protein C measurement QTL GWAS1279415 (human)5e-18mannose-binding protein C measurement105276949952769500Human
597297836GWAS1393910_Hmannose-binding protein C measurement QTL GWAS1393910 (human)2e-51mannose-binding protein C measurement105277146652771467Human
597183342GWAS1279416_Hmannose-binding protein C measurement QTL GWAS1279416 (human)6e-46mannose-binding protein C measurement105277148252771483Human
597274734GWAS1370808_Hmannose-binding protein C measurement QTL GWAS1370808 (human)3e-22mannose-binding protein C measurement105277146652771467Human
597304493GWAS1400567_Hmannose-binding protein C measurement QTL GWAS1400567 (human)1e-69mannose-binding protein C measurement105277146652771467Human
597177840GWAS1273914_Hprotein measurement QTL GWAS1273914 (human)9e-21protein amount (VT:0010120)105277147552771476Human
597271218GWAS1367292_Hmannose-binding protein C measurement QTL GWAS1367292 (human)8e-14mannose-binding protein C measurement105276727252767273Human
597271220GWAS1367294_Hmannose-binding protein C measurement QTL GWAS1367294 (human)8e-16mannose-binding protein C measurement105276949952769500Human
597292087GWAS1388161_Hmannose-binding protein C measurement QTL GWAS1388161 (human)6e-16mannose-binding protein C measurement105276574952765750Human
597304341GWAS1400415_Hlevel of calcipressin-3 in blood serum QTL GWAS1400415 (human)8e-20level of calcipressin-3 in blood serum105277146652771467Human

Markers in Region
D10S1570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,525,429 - 54,525,548UniSTSGRCh37
Build 361054,195,435 - 54,195,554RGDNCBI36
Celera1047,788,361 - 47,788,480RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,504,037 - 48,504,156UniSTS
GeneMap99-GB4 RH Map10325.96UniSTS
Whitehead-RH Map10398.3UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH119687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,531,530 - 54,531,810UniSTSGRCh37
Build 361054,201,536 - 54,201,816RGDNCBI36
Celera1047,794,462 - 47,794,742RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,510,138 - 48,510,418UniSTS
TNG Radiation Hybrid Map1024167.0UniSTS
GDB:193870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,525,230 - 54,525,379UniSTSGRCh37
Build 361054,195,236 - 54,195,385RGDNCBI36
Celera1047,788,162 - 47,788,311RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,503,838 - 48,503,987UniSTS
MBL2_461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,525,106 - 54,525,932UniSTSGRCh37
Build 361054,195,112 - 54,195,938RGDNCBI36
Celera1047,788,038 - 47,788,864RGD
HuRef1048,503,714 - 48,504,540UniSTS
MBL2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,527,826 - 54,527,885UniSTSGRCh37
Build 361054,197,832 - 54,197,891RGDNCBI36
Celera1047,790,758 - 47,790,817RGD
HuRef1048,506,434 - 48,506,493UniSTS
STS-X15422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,525,246 - 54,525,463UniSTSGRCh37
Build 361054,195,252 - 54,195,469RGDNCBI36
Celera1047,788,178 - 47,788,395RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,503,854 - 48,504,071UniSTS
GeneMap99-GB4 RH Map10321.58UniSTS
NCBI RH Map10642.8UniSTS
G10512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,527,550 - 54,527,760UniSTSGRCh37
Build 361054,197,556 - 54,197,766RGDNCBI36
Celera1047,790,482 - 47,790,692RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,506,158 - 48,506,368UniSTS
STS-X15955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,530,496 - 54,530,658UniSTSGRCh37
Build 361054,200,502 - 54,200,664RGDNCBI36
Celera1047,793,428 - 47,793,590RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,509,104 - 48,509,266UniSTS
GeneMap99-GB4 RH Map10323.18UniSTS
NCBI RH Map10644.9UniSTS
D10S2146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,527,771 - 54,527,892UniSTSGRCh37
Build 361054,197,777 - 54,197,898RGDNCBI36
Celera1047,790,703 - 47,790,824RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,506,379 - 48,506,500UniSTS
GeneMap99-G3 RH Map102474.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
173 687 814 447 770 760 752 483 373 447 332 1796 1297 12 934 136 610 262 37

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB025350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF360991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF482699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF482700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY826184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS251180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ217939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU481972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU596574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU726526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA630840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA638704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA638769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA638834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA672739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA878796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA883833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA883898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB259210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC599127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC815753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC815754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC815755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373968   ⟹   ENSP00000363079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1052,765,380 - 52,771,700 (-)Ensembl
Ensembl Acc Id: ENST00000674931   ⟹   ENSP00000502789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1052,765,380 - 52,772,784 (-)Ensembl
Ensembl Acc Id: ENST00000675947   ⟹   ENSP00000502615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1052,765,380 - 52,772,784 (-)Ensembl
RefSeq Acc Id: NM_000242   ⟹   NP_000233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,765,380 - 52,771,652 (-)NCBI
GRCh371054,525,140 - 54,532,578 (-)NCBI
Build 361054,195,146 - 54,201,466 (-)NCBI Archive
HuRef1048,503,748 - 48,510,068 (-)ENTREZGENE
CHM1_11054,806,939 - 54,813,257 (-)NCBI
T2T-CHM13v2.01053,612,365 - 53,618,635 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378373   ⟹   NP_001365302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,765,380 - 52,772,784 (-)NCBI
T2T-CHM13v2.01053,612,365 - 53,619,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378374   ⟹   NP_001365303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,765,380 - 52,772,784 (-)NCBI
T2T-CHM13v2.01053,612,365 - 53,619,761 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000233 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365303 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC31937 (Get FASTA)   NCBI Sequence Viewer  
  AAH69338 (Get FASTA)   NCBI Sequence Viewer  
  AAH96179 (Get FASTA)   NCBI Sequence Viewer  
  AAH96180 (Get FASTA)   NCBI Sequence Viewer  
  AAH96181 (Get FASTA)   NCBI Sequence Viewer  
  AAH96182 (Get FASTA)   NCBI Sequence Viewer  
  AAK52907 (Get FASTA)   NCBI Sequence Viewer  
  AAN39274 (Get FASTA)   NCBI Sequence Viewer  
  AAN39275 (Get FASTA)   NCBI Sequence Viewer  
  AAV80468 (Get FASTA)   NCBI Sequence Viewer  
  ABB01009 (Get FASTA)   NCBI Sequence Viewer  
  ACA48258 (Get FASTA)   NCBI Sequence Viewer  
  ACC62880 (Get FASTA)   NCBI Sequence Viewer  
  ACE06983 (Get FASTA)   NCBI Sequence Viewer  
  BAB17020 (Get FASTA)   NCBI Sequence Viewer  
  CAA33462 (Get FASTA)   NCBI Sequence Viewer  
  CAA34079 (Get FASTA)   NCBI Sequence Viewer  
  CAB56044 (Get FASTA)   NCBI Sequence Viewer  
  CAB56045 (Get FASTA)   NCBI Sequence Viewer  
  CAB56120 (Get FASTA)   NCBI Sequence Viewer  
  CAB56121 (Get FASTA)   NCBI Sequence Viewer  
  CAB56122 (Get FASTA)   NCBI Sequence Viewer  
  CAB56123 (Get FASTA)   NCBI Sequence Viewer  
  CAB56124 (Get FASTA)   NCBI Sequence Viewer  
  CAJ58412 (Get FASTA)   NCBI Sequence Viewer  
  CCE53522 (Get FASTA)   NCBI Sequence Viewer  
  CCE67084 (Get FASTA)   NCBI Sequence Viewer  
  CCE67089 (Get FASTA)   NCBI Sequence Viewer  
  CCE67094 (Get FASTA)   NCBI Sequence Viewer  
  CCF12075 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77659 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77665 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77670 (Get FASTA)   NCBI Sequence Viewer  
  CDH61700 (Get FASTA)   NCBI Sequence Viewer  
  CEF39413 (Get FASTA)   NCBI Sequence Viewer  
  EAW54148 (Get FASTA)   NCBI Sequence Viewer  
  EAW54149 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000363079
  ENSP00000363079.3
  ENSP00000502615
  ENSP00000502615.1
  ENSP00000502789
  ENSP00000502789.1
GenBank Protein P11226 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000233   ⟸   NM_000242
- Peptide Label: precursor
- UniProtKB: Q96TF8 (UniProtKB/Swiss-Prot),   Q96TF7 (UniProtKB/Swiss-Prot),   Q96KE4 (UniProtKB/Swiss-Prot),   Q86SI4 (UniProtKB/Swiss-Prot),   Q5SQS3 (UniProtKB/Swiss-Prot),   Q4VB14 (UniProtKB/Swiss-Prot),   Q4VB13 (UniProtKB/Swiss-Prot),   Q4VB12 (UniProtKB/Swiss-Prot),   Q96TF9 (UniProtKB/Swiss-Prot),   P11226 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365302   ⟸   NM_001378373
- Peptide Label: precursor
- UniProtKB: Q96TF8 (UniProtKB/Swiss-Prot),   Q96TF7 (UniProtKB/Swiss-Prot),   Q96KE4 (UniProtKB/Swiss-Prot),   Q86SI4 (UniProtKB/Swiss-Prot),   Q5SQS3 (UniProtKB/Swiss-Prot),   Q4VB14 (UniProtKB/Swiss-Prot),   Q4VB13 (UniProtKB/Swiss-Prot),   Q4VB12 (UniProtKB/Swiss-Prot),   P11226 (UniProtKB/Swiss-Prot),   Q96TF9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001365303   ⟸   NM_001378374
- Peptide Label: precursor
- UniProtKB: Q96TF8 (UniProtKB/Swiss-Prot),   Q96TF7 (UniProtKB/Swiss-Prot),   Q96KE4 (UniProtKB/Swiss-Prot),   Q86SI4 (UniProtKB/Swiss-Prot),   Q5SQS3 (UniProtKB/Swiss-Prot),   Q4VB14 (UniProtKB/Swiss-Prot),   Q4VB13 (UniProtKB/Swiss-Prot),   Q4VB12 (UniProtKB/Swiss-Prot),   P11226 (UniProtKB/Swiss-Prot),   Q96TF9 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000363079   ⟸   ENST00000373968
Ensembl Acc Id: ENSP00000502789   ⟸   ENST00000674931
Ensembl Acc Id: ENSP00000502615   ⟸   ENST00000675947
Protein Domains
C-type lectin   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11226-F1-model_v2 AlphaFold P11226 1-248 view protein structure

Promoters
RGD ID:7217567
Promoter ID:EPDNEW_H14529
Type:initiation region
Name:MBL2_1
Description:mannose binding lectin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14530  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,771,618 - 52,771,678EPDNEW
RGD ID:7217569
Promoter ID:EPDNEW_H14530
Type:initiation region
Name:MBL2_2
Description:mannose binding lectin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14529  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,772,784 - 52,772,844EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6922 AgrOrtholog
COSMIC MBL2 COSMIC
Ensembl Genes ENSG00000165471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373968 ENTREZGENE
  ENST00000373968.3 UniProtKB/Swiss-Prot
  ENST00000674931 ENTREZGENE
  ENST00000674931.1 UniProtKB/Swiss-Prot
  ENST00000675947 ENTREZGENE
  ENST00000675947.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000165471 GTEx
HGNC ID HGNC:6922 ENTREZGENE
Human Proteome Map MBL2 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot
  C-type_lectin_CS UniProtKB/Swiss-Prot
  Ca-dependent_lectin UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot
  Collectin_CTLD UniProtKB/Swiss-Prot
  CTDL_fold UniProtKB/Swiss-Prot
KEGG Report hsa:4153 UniProtKB/Swiss-Prot
NCBI Gene 4153 ENTREZGENE
OMIM 154545 OMIM
PANTHER PTHR24024:SF34 UniProtKB/Swiss-Prot
  PULMONARY SURFACTANT-ASSOCIATED PROTEIN A UniProtKB/Swiss-Prot
Pfam Collagen UniProtKB/Swiss-Prot
  Lectin_C UniProtKB/Swiss-Prot
PharmGKB PA30665 PharmGKB
PROSITE C_TYPE_LECTIN_1 UniProtKB/Swiss-Prot
  C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot
SMART CLECT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot
  Triple coiled coil domain of C-type lectins UniProtKB/Swiss-Prot
UniProt B1PN75_HUMAN UniProtKB/TrEMBL
  MBL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4VB12 ENTREZGENE
  Q4VB13 ENTREZGENE
  Q4VB14 ENTREZGENE
  Q5SQS3 ENTREZGENE
  Q86SI4 ENTREZGENE
  Q96KE4 ENTREZGENE
  Q96TF7 ENTREZGENE
  Q96TF8 ENTREZGENE
  Q96TF9 ENTREZGENE
UniProt Secondary Q4VB12 UniProtKB/Swiss-Prot
  Q4VB13 UniProtKB/Swiss-Prot
  Q4VB14 UniProtKB/Swiss-Prot
  Q5SQS3 UniProtKB/Swiss-Prot
  Q86SI4 UniProtKB/Swiss-Prot
  Q96KE4 UniProtKB/Swiss-Prot
  Q96TF7 UniProtKB/Swiss-Prot
  Q96TF8 UniProtKB/Swiss-Prot
  Q96TF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 MBL2  mannose binding lectin 2  MBL2  mannose-binding lectin (protein C) 2, soluble  Symbol and/or name change 5135510 APPROVED
2011-07-27 MBL2  mannose-binding lectin (protein C) 2, soluble  MBL2  mannose-binding lectin (protein C) 2, soluble (opsonic defect)  Symbol and/or name change 5135510 APPROVED