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
Description: Enables several functions, including calcium-dependent protein binding activity; identical protein binding activity; and mannose binding activity. Involved in innate immune response and negative regulation of viral process. Acts upstream of or within complement activation, lectin pathway and defense response to Gram-positive bacterium. Located in extracellular space. 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
Also 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 Genes
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
GRCh38.p13 Ensembl1052,765,380 - 52,772,784 (-)EnsemblGRCh38hg38GRCh38
GRCh381052,765,380 - 52,772,784 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371054,525,140 - 54,532,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361054,195,146 - 54,201,466 (-)NCBINCBI36hg18NCBI36
Build 341054,195,146 - 54,201,466NCBI
Celera1047,788,072 - 47,794,392 (-)NCBI
Cytogenetic Map10q21.1NCBI
HuRef1048,503,748 - 48,510,068 (-)NCBIHuRef
CHM1_11054,806,939 - 54,813,257 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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  (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)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-amphetamine  (ISO)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (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)
carbon nanotube  (ISO)
cerium trichloride  (EXP)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
endosulfan  (EXP)
flutamide  (ISO)
furan  (ISO)
glafenine  (ISO)
Lasiocarpine  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
metam  (ISO)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (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  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
troglitazone  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
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Additional References at PubMed
PMID:1303250   PMID:1304173   PMID:1458688   PMID:1672848   PMID:1675710   PMID:2450948   PMID:2477486   PMID:2477488   PMID:2590164   PMID:7634089   PMID:7707811   PMID:7982896  
PMID:8062452   PMID:8206524   PMID:8267903   PMID:8666845   PMID:9087411   PMID:9476117   PMID:9570553   PMID:9743385   PMID:9799711   PMID:10368295   PMID:10447262   PMID:10578050  
PMID:10639434   PMID:10725420   PMID:10878362   PMID:10888598   PMID:10925294   PMID:11023480   PMID:11145046   PMID:11196679   PMID:11196698   PMID:11255386   PMID:11274270   PMID:11290788  
PMID:11295122   PMID:11302870   PMID:11361219   PMID:11393663   PMID:11402450   PMID:11485744   PMID:11487077   PMID:11532276   PMID:11549596   PMID:11560994   PMID:11564800   PMID:11712863  
PMID:11737072   PMID:11781711   PMID:11804586   PMID:11891230   PMID:11906616   PMID:11940329   PMID:11986203   PMID:12175909   PMID:12370377   PMID:12393699   PMID:12421953   PMID:12439623  
PMID:12472676   PMID:12477932   PMID:12487819   PMID:12492252   PMID:12517417   PMID:12560567   PMID:12595908   PMID:12640191   PMID:12641410   PMID:12648279   PMID:12651071   PMID:12672193  
PMID:12699957   PMID:12715245   PMID:12761563   PMID:12770793   PMID:12847552   PMID:12918709   PMID:12921293   PMID:12934195   PMID:12941144   PMID:12957407   PMID:14564351   PMID:14582818  
PMID:14669753   PMID:14739370   PMID:14764589   PMID:14994386   PMID:15061663   PMID:15101708   PMID:15117456   PMID:15117939   PMID:15127191   PMID:15148336   PMID:15148337   PMID:15161763  
PMID:15254284   PMID:15292002   PMID:15306844   PMID:15381182   PMID:15381817   PMID:15467537   PMID:15472209   PMID:15480986   PMID:15488604   PMID:15489334   PMID:15516675   PMID:15535834  
PMID:15572157   PMID:15592292   PMID:15627619   PMID:15645196   PMID:15647440   PMID:15653690   PMID:15674393   PMID:15697204   PMID:15728497   PMID:15742161   PMID:15753758   PMID:15829288  
PMID:15829302   PMID:15853952   PMID:15855341   PMID:15857180   PMID:15888042   PMID:15989776   PMID:15994813   PMID:16006058   PMID:16029433   PMID:16034120   PMID:16046196   PMID:16083697  
PMID:16094691   PMID:16099048   PMID:16099912   PMID:16102832   PMID:16105157   PMID:16110781   PMID:16112196   PMID:16115848   PMID:16152689   PMID:16170752   PMID:16178865   PMID:16185324  
PMID:16200716   PMID:16208516   PMID:16214215   PMID:16216673   PMID:16220211   PMID:16256117   PMID:16320344   PMID:16369192   PMID:16385451   PMID:16429424   PMID:16439442   PMID:16476012  
PMID:16500704   PMID:16517152   PMID:16522396   PMID:16553818   PMID:16677572   PMID:16681863   PMID:16721783   PMID:16729310   PMID:16738667   PMID:16751976   PMID:16792667   PMID:16827883  
PMID:16856624   PMID:16911830   PMID:16912583   PMID:16916656   PMID:16951387   PMID:16960176   PMID:17014624   PMID:17044201   PMID:17045187   PMID:17071626   PMID:17072973   PMID:17083310  
PMID:17083312   PMID:17092257   PMID:17096357   PMID:17157384   PMID:17174748   PMID:17178888   PMID:17195187   PMID:17222001   PMID:17259116   PMID:17266113   PMID:17275645   PMID:17289451  
PMID:17303612   PMID:17314117   PMID:17380431   PMID:17415991   PMID:17419286   PMID:17439930   PMID:17442667   PMID:17442954   PMID:17478467   PMID:17480019   PMID:17482281   PMID:17484222  
PMID:17496053   PMID:17513174   PMID:17552055   PMID:17554527   PMID:17559949   PMID:17565323   PMID:17567900   PMID:17610319   PMID:17610322   PMID:17626901   PMID:17634432   PMID:17651383  
PMID:17652092   PMID:17653692   PMID:17659761   PMID:17665457   PMID:17678865   PMID:17703412   PMID:17763324   PMID:17845414   PMID:17846289   PMID:17848669   PMID:17855170   PMID:17869647  
PMID:17872904   PMID:17875183   PMID:17896801   PMID:17898783   PMID:17921115   PMID:17922403   PMID:17942155   PMID:17942372   PMID:17990579   PMID:18029348   PMID:18031556   PMID:18052966  
PMID:18082567   PMID:18091754   PMID:18166320   PMID:18174230   PMID:18177377   PMID:18192915   PMID:18194386   PMID:18209939   PMID:18211540   PMID:18214570   PMID:18231631   PMID:18288881  
PMID:18292811   PMID:18317236   PMID:18322223   PMID:18347304   PMID:18348874   PMID:18368489   PMID:18374983   PMID:18415846   PMID:18452612   PMID:18455525   PMID:18478332   PMID:18486762  
PMID:18494378   PMID:18495592   PMID:18496832   PMID:18498240   PMID:18543229   PMID:18552214   PMID:18562462   PMID:18596036   PMID:18602571   PMID:18602696   PMID:18611155   PMID:18612667  
PMID:18633131   PMID:18637753   PMID:18676680   PMID:18700861   PMID:18715406   PMID:18727690   PMID:18729778   PMID:18754287   PMID:18782274   PMID:18818748   PMID:18823346   PMID:18847375  
PMID:18936436   PMID:18950864   PMID:18952132   PMID:18957309   PMID:18988385   PMID:19019335   PMID:19021583   PMID:19035512   PMID:19050632   PMID:19056797   PMID:19057812   PMID:19064572  
PMID:19086549   PMID:19094203   PMID:19139195   PMID:19143554   PMID:19161617   PMID:19170196   PMID:19185543   PMID:19238444   PMID:19252378   PMID:19258923   PMID:19273450   PMID:19275921  
PMID:19276308   PMID:19286845   PMID:19307021   PMID:19328949   PMID:19336370   PMID:19344414   PMID:19352197   PMID:19366862   PMID:19371855   PMID:19380618   PMID:19408100   PMID:19423540  
PMID:19425063   PMID:19430499   PMID:19432958   PMID:19465640   PMID:19466271   PMID:19468207   PMID:19481774   PMID:19501100   PMID:19517215   PMID:19527514   PMID:19540295   PMID:19557622  
PMID:19580835   PMID:19590686   PMID:19606686   PMID:19625176   PMID:19657091   PMID:19692168   PMID:19709662   PMID:19711212   PMID:19716183   PMID:19729601   PMID:19738092   PMID:19775369  
PMID:19789190   PMID:19790141   PMID:19796526   PMID:19817957   PMID:19833760   PMID:19840833   PMID:19853314   PMID:19854517   PMID:19879913   PMID:19891773   PMID:19896716   PMID:19913121  
PMID:19917506   PMID:19939454   PMID:19969625   PMID:20022898   PMID:20038440   PMID:20042521   PMID:20056178   PMID:20065005   PMID:20078874   PMID:20079790   PMID:20087947   PMID:20110521  
PMID:20127985   PMID:20132924   PMID:20140243   PMID:20150204   PMID:20182871   PMID:20193030   PMID:20196868   PMID:20207250   PMID:20237496   PMID:20298391   PMID:20331378   PMID:20331735  
PMID:20334849   PMID:20351616   PMID:20356797   PMID:20374367   PMID:20406964   PMID:20408832   PMID:20438785   PMID:20442634   PMID:20443743   PMID:20452482   PMID:20453525   PMID:20463618  
PMID:20498720   PMID:20499118   PMID:20503287   PMID:20504205   PMID:20522590   PMID:20573835   PMID:20592033   PMID:20593422   PMID:20595266   PMID:20598754   PMID:20605050   PMID:20610664  
PMID:20618520   PMID:20628086   PMID:20636396   PMID:20673868   PMID:20682603   PMID:20693349   PMID:20712490   PMID:20732365   PMID:20799037   PMID:20833838   PMID:20848568   PMID:20881011  
PMID:20887383   PMID:21045008   PMID:21054788   PMID:21088049   PMID:21091907   PMID:21106539   PMID:21142772   PMID:21171930   PMID:21182784   PMID:21192229   PMID:21194488   PMID:21203938  
PMID:21211797   PMID:21268013   PMID:21281477   PMID:21334396   PMID:21383675   PMID:21394075   PMID:21488869   PMID:21496252   PMID:21536088   PMID:21544638   PMID:21554230   PMID:21557458  
PMID:21640628   PMID:21655939   PMID:21681178   PMID:21695215   PMID:21707593   PMID:21722964   PMID:21729275   PMID:21873635   PMID:21893516   PMID:21895981   PMID:21911261   PMID:21920399  
PMID:21974696   PMID:22002015   PMID:22019001   PMID:22022564   PMID:22050689   PMID:22050925   PMID:22082351   PMID:22131319   PMID:22134613   PMID:22172537   PMID:22173059   PMID:22183303  
PMID:22206649   PMID:22215653   PMID:22221294   PMID:22225939   PMID:22247351   PMID:22258234   PMID:22282660   PMID:22296677   PMID:22301353   PMID:22302853   PMID:22331020   PMID:22363494  
PMID:22377282   PMID:22380611   PMID:22441636   PMID:22504420   PMID:22523362   PMID:22578937   PMID:22607836   PMID:22633170   PMID:22650645   PMID:22673492   PMID:22762710   PMID:22774989  
PMID:22811680   PMID:22813781   PMID:22820623   PMID:22848725   PMID:22938690   PMID:22974720   PMID:22994203   PMID:23000376   PMID:23000377   PMID:23062612   PMID:23065234   PMID:23073041  
PMID:23094532   PMID:23172101   PMID:23225056   PMID:23289185   PMID:23326517   PMID:23417614   PMID:23423485   PMID:23439277   PMID:23448728   PMID:23524205   PMID:23544079   PMID:23563916  
PMID:23592124   PMID:23602874   PMID:23637788   PMID:23662819   PMID:23711995   PMID:23741476   PMID:23750697   PMID:23806468   PMID:23861212   PMID:23865867   PMID:23911397   PMID:24035792  
PMID:24045948   PMID:24047736   PMID:24086711   PMID:24103065   PMID:24116040   PMID:24118442   PMID:24126531   PMID:24134411   PMID:24182802   PMID:24227370   PMID:24255984   PMID:24264011  
PMID:24321303   PMID:24321858   PMID:24338257   PMID:24339961   PMID:24376633   PMID:24391218   PMID:24391778   PMID:24399838   PMID:24429128   PMID:24430505   PMID:24472859   PMID:24486561  
PMID:24579967   PMID:24593307   PMID:24595015   PMID:24601758   PMID:24602163   PMID:24691546   PMID:24751721   PMID:24771334   PMID:24798938   PMID:24810526   PMID:24825317   PMID:24861434  
PMID:24877121   PMID:24901869   PMID:24910008   PMID:24952212   PMID:24972325   PMID:24977653   PMID:25019352   PMID:25024112   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:26924055   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:30290772   PMID:30378749   PMID:30482213   PMID:30482481   PMID:30526728   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:32119194   PMID:32269261   PMID:32279906   PMID:32296183  
PMID:32349793   PMID:32616614   PMID:32635881   PMID:32721184   PMID:32894840   PMID:32913345   PMID:33013845   PMID:33180387   PMID:33262767   PMID:33270011   PMID:33362211   PMID:33515713  
PMID:33679736  


Genomics

Comparative Map Data
MBL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1052,765,380 - 52,772,784 (-)EnsemblGRCh38hg38GRCh38
GRCh381052,765,380 - 52,772,784 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371054,525,140 - 54,532,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361054,195,146 - 54,201,466 (-)NCBINCBI36hg18NCBI36
Build 341054,195,146 - 54,201,466NCBI
Celera1047,788,072 - 47,794,392 (-)NCBI
Cytogenetic Map10q21.1NCBI
HuRef1048,503,748 - 48,510,068 (-)NCBIHuRef
CHM1_11054,806,939 - 54,813,257 (-)NCBICHM1_1
Mbl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391930,210,306 - 30,217,087 (+)NCBIGRCm39mm39
GRCm39 Ensembl1930,210,342 - 30,217,087 (+)Ensembl
GRCm381930,232,906 - 30,239,687 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1930,232,942 - 30,239,687 (+)EnsemblGRCm38mm10GRCm38
MGSCv371930,307,447 - 30,314,172 (+)NCBIGRCm37mm9NCBIm37
MGSCv361930,298,954 - 30,305,679 (+)NCBImm8
Celera1931,010,980 - 31,017,684 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1925.14NCBI
Mbl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21228,016,439 - 228,024,736 (+)NCBI
Rnor_6.0 Ensembl1248,723,397 - 248,729,962 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01248,435,069 - 248,442,669 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01255,681,084 - 255,688,683 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,978,931 - 233,983,824 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11234,140,682 - 234,147,846 (+)NCBI
Celera1225,160,772 - 225,165,665 (+)NCBICelera
Cytogenetic Map1q52NCBI
Mbl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554257,702,137 - 7,709,006 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554257,704,371 - 7,708,951 (-)NCBIChiLan1.0ChiLan1.0
MBL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11051,537,129 - 51,543,041 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1051,527,758 - 51,543,432 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01049,401,364 - 49,409,328 (-)NCBIMhudiblu_PPA_v0panPan3
LOC479260
(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 (-)NCBI
ROS_Cfam_1.0429,721,980 - 29,726,589 (-)NCBI
UMICH_Zoey_3.1429,591,559 - 29,596,084 (-)NCBI
UNSW_CanFamBas_1.0429,794,211 - 29,798,774 (-)NCBI
UU_Cfam_GSD_1.0430,148,194 - 30,152,765 (-)NCBI
MBL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1497,102,894 - 97,108,936 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (+)NCBI
ChlSab1.1 Ensembl978,389,947 - 78,396,079 (+)Ensembl
Vero_WHO_p1.0NW_02366604839,340,958 - 39,345,030 (+)NCBI
Mbl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479110,881,319 - 10,886,294 (+)NCBI

Position Markers
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

miRNA Target Status

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 402 402 1 402
Low 6 8 29 27 6 27 46 4 21 7 9 5 4 20
Below cutoff 681 581 329 54 366 18 1002 441 913 47 544 255 37 169 794

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
  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
  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

Reference Sequences
RefSeq Acc Id: ENST00000373968   ⟹   ENSP00000363079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1052,765,380 - 52,771,700 (-)Ensembl
RefSeq Acc Id: ENST00000674931   ⟹   ENSP00000502789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1052,765,380 - 52,772,784 (-)Ensembl
RefSeq Acc Id: ENST00000675947   ⟹   ENSP00000502615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
RefSeq Acc Id: NM_001378374   ⟹   NP_001365303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,765,380 - 52,772,784 (-)NCBI
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  
  P11226 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000233   ⟸   NM_000242
- Peptide Label: precursor
- UniProtKB: P11226 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365302   ⟸   NM_001378373
- Peptide Label: precursor
RefSeq Acc Id: NP_001365303   ⟸   NM_001378374
- Peptide Label: precursor
RefSeq Acc Id: ENSP00000363079   ⟸   ENST00000373968
RefSeq Acc Id: ENSP00000502789   ⟸   ENST00000674931
RefSeq Acc Id: ENSP00000502615   ⟸   ENST00000675947
Protein Domains
C-type lectin   Collagen-like

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) single nucleotide variant Mannose-binding protein deficiency [RCV000015424] Chr10:52771475 [GRCh38]
Chr10:54531235 [GRCh37]
Chr10:10q21.1
pathogenic
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) single nucleotide variant Mannose-binding protein deficiency [RCV000015425]|not specified [RCV000455297] Chr10:52771466 [GRCh38]
Chr10:54531226 [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 protein deficiency [RCV000015426] Chr10:52771482 [GRCh38]
Chr10:54531242 [GRCh37]
Chr10:10q21.1
pathogenic|risk factor
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 protein deficiency [RCV001332301] 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_000242.2(MBL2):c.*1275T>C single nucleotide variant Mannose-binding protein deficiency [RCV000320760] Chr10:52766862 [GRCh38]
Chr10:54526622 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*2067C>T single nucleotide variant Mannose-binding protein deficiency [RCV000344465] Chr10:52766070 [GRCh38]
Chr10:54525830 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.483T>C (p.Ser161=) single nucleotide variant Mannose-binding protein deficiency [RCV000268459] Chr10:52768401 [GRCh38]
Chr10:54528161 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1287C>T single nucleotide variant Mannose-binding protein deficiency [RCV000284430] Chr10:52766850 [GRCh38]
Chr10:54526610 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*675C>T single nucleotide variant Mannose-binding protein deficiency [RCV000369938] Chr10:52767462 [GRCh38]
Chr10:54527222 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1498C>T single nucleotide variant Mannose-binding protein deficiency [RCV000269194] Chr10:52766639 [GRCh38]
Chr10:54526399 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1136A>G single nucleotide variant Mannose-binding protein 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 protein deficiency [RCV000323543]|not specified [RCV000454838] Chr10:52768506 [GRCh38]
Chr10:54528266 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_000242.2(MBL2):c.302C>T (p.Pro101Leu) single nucleotide variant Mannose-binding protein deficiency [RCV000373660] Chr10:52770672 [GRCh38]
Chr10:54530432 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1995del deletion Mannose-binding protein deficiency [RCV000305946] Chr10:52766142 [GRCh38]
Chr10:54525902 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2219A>C single nucleotide variant Mannose-binding protein deficiency [RCV000289598] Chr10:52765918 [GRCh38]
Chr10:54525678 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*447G>C single nucleotide variant Mannose-binding protein deficiency [RCV000307052] Chr10:52767690 [GRCh38]
Chr10:54527450 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2048A>G single nucleotide variant Mannose-binding protein deficiency [RCV000290537] Chr10:52766089 [GRCh38]
Chr10:54525849 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*1452A>T single nucleotide variant Mannose-binding protein deficiency [RCV000328982] Chr10:52766685 [GRCh38]
Chr10:54526445 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1569A>G single nucleotide variant Mannose-binding protein deficiency [RCV000332412] Chr10:52766568 [GRCh38]
Chr10:54526328 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1879A>C single nucleotide variant Mannose-binding protein deficiency [RCV000404555] Chr10:52766258 [GRCh38]
Chr10:54526018 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*1691G>A single nucleotide variant Mannose-binding protein deficiency [RCV000277266] Chr10:52766446 [GRCh38]
Chr10:54526206 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*1695G>T single nucleotide variant Mannose-binding protein deficiency [RCV000312486] Chr10:52766442 [GRCh38]
Chr10:54526202 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2450A>T single nucleotide variant Mannose-binding protein deficiency [RCV000334131] Chr10:52765687 [GRCh38]
Chr10:54525447 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1819T>C single nucleotide variant Mannose-binding protein deficiency [RCV000357130] Chr10:52766318 [GRCh38]
Chr10:54526078 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*99T>G single nucleotide variant Mannose-binding protein deficiency [RCV000358518] Chr10:52768038 [GRCh38]
Chr10:54527798 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1429A>C single nucleotide variant Mannose-binding protein deficiency [RCV000383002] Chr10:52766708 [GRCh38]
Chr10:54526468 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1711T>G single nucleotide variant Mannose-binding protein deficiency [RCV000261947] Chr10:52766426 [GRCh38]
Chr10:54526186 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.-14C>G single nucleotide variant Mannose-binding protein deficiency [RCV000294457] Chr10:52771649 [GRCh38]
Chr10:54531409 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1135A>G single nucleotide variant Mannose-binding protein deficiency [RCV000335836] Chr10:52767002 [GRCh38]
Chr10:54526762 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2033G>A single nucleotide variant Mannose-binding protein deficiency [RCV000408206] Chr10:52766104 [GRCh38]
Chr10:54525864 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2727G>T single nucleotide variant Mannose-binding protein deficiency [RCV000263903] Chr10:52765410 [GRCh38]
Chr10:54525170 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*865A>C single nucleotide variant Mannose-binding protein deficiency [RCV000315219] Chr10:52767272 [GRCh38]
Chr10:54527032 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2477C>T single nucleotide variant Mannose-binding protein deficiency [RCV000387675] Chr10:52765660 [GRCh38]
Chr10:54525420 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2388T>G single nucleotide variant Mannose-binding protein deficiency [RCV000388622] Chr10:52765749 [GRCh38]
Chr10:54525509 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*1857A>G single nucleotide variant Mannose-binding protein deficiency [RCV000297618] Chr10:52766280 [GRCh38]
Chr10:54526040 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*2702G>A single nucleotide variant Mannose-binding protein deficiency [RCV000316810] Chr10:52765435 [GRCh38]
Chr10:54525195 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1088C>T single nucleotide variant Mannose-binding protein deficiency [RCV000281920] Chr10:52767049 [GRCh38]
Chr10:54526809 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2040G>T single nucleotide variant Mannose-binding protein deficiency [RCV000340808] Chr10:52766097 [GRCh38]
Chr10:54525857 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*1913C>T single nucleotide variant Mannose-binding protein deficiency [RCV000341830] Chr10:52766224 [GRCh38]
Chr10:54525984 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.*1134C>T single nucleotide variant Mannose-binding protein deficiency [RCV000391262] Chr10:52767003 [GRCh38]
Chr10:54526763 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*324C>T single nucleotide variant Mannose-binding protein deficiency [RCV000366361] Chr10:52767813 [GRCh38]
Chr10:54527573 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1694G>T single nucleotide variant Mannose-binding protein deficiency [RCV000367075] Chr10:52766443 [GRCh38]
Chr10:54526203 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*289C>T single nucleotide variant Mannose-binding protein deficiency [RCV000271799] Chr10:52767848 [GRCh38]
Chr10:54527608 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2470A>C single nucleotide variant Mannose-binding protein deficiency [RCV000274421] Chr10:52765667 [GRCh38]
Chr10:54525427 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1144A>G single nucleotide variant Mannose-binding protein deficiency [RCV000379963] Chr10:52766993 [GRCh38]
Chr10:54526753 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*1568C>T single nucleotide variant Mannose-binding protein deficiency [RCV000363718] Chr10:52766569 [GRCh38]
Chr10:54526329 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*2066G>T single nucleotide variant Mannose-binding protein deficiency [RCV000385044] Chr10:52766071 [GRCh38]
Chr10:54525831 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*953T>C single nucleotide variant Mannose-binding protein deficiency [RCV000350185] Chr10:52767184 [GRCh38]
Chr10:54526944 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*674A>G single nucleotide variant Mannose-binding protein deficiency [RCV000405650] Chr10:52767463 [GRCh38]
Chr10:54527223 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.166A>G (p.Lys56Glu) single nucleotide variant Mannose-binding protein deficiency [RCV000320152] Chr10:52771470 [GRCh38]
Chr10:54531230 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*282A>G single nucleotide variant Mannose-binding protein deficiency [RCV000322365] Chr10:52767855 [GRCh38]
Chr10:54527615 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.*937A>G single nucleotide variant Mannose-binding protein deficiency [RCV000391264] Chr10:52767200 [GRCh38]
Chr10:54526960 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.-66C>T single nucleotide variant Mannose-binding protein deficiency [RCV000390620] Chr10:52771701 [GRCh38]
Chr10:54531461 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.163A>G (p.Thr55Ala) single nucleotide variant Mannose-binding protein deficiency [RCV000374843] Chr10:52771473 [GRCh38]
Chr10:54531233 [GRCh37]
Chr10:10q21.1
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 protein 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_000242.2(MBL2):c.628G>T (p.Glu210Ter) single nucleotide variant Mannose-binding protein deficiency [RCV000778285]|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 protein 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 protein 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 protein 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 protein deficiency [RCV001102752] 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 protein 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 protein 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 protein deficiency [RCV001105837] Chr10:52771610 [GRCh38]
Chr10:54531370 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.187+5G>A single nucleotide variant not provided [RCV000860532] Chr10:52771444 [GRCh38]
Chr10:54531204 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(MBL2):c.226T>C (p.Leu76=) single nucleotide variant not provided [RCV000929779] Chr10:52770748 [GRCh38]
Chr10:54530508 [GRCh37]
Chr10:10q21.1
likely benign
NM_000242.2(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 protein deficiency [RCV001104481] Chr10:52765928 [GRCh38]
Chr10:54525688 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_000242.2(MBL2):c.527A>G (p.Asn176Ser) single nucleotide variant Mannose-binding protein 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 protein 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 protein 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 protein 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 protein 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 protein deficiency [RCV001107892] Chr10:52766394 [GRCh38]
Chr10:54526154 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001378373.1(MBL2):c.*3G>T single nucleotide variant Mannose-binding protein deficiency [RCV001107982] Chr10:52768134 [GRCh38]
Chr10:54527894 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001378373.1(MBL2):c.249G>T (p.Gly83=) single nucleotide variant Mannose-binding protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein 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 protein deficiency [RCV001107983] 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 protein deficiency [RCV001107984] 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 protein 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 protein 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 protein 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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6922 AgrOrtholog
COSMIC MBL2 COSMIC
Ensembl Genes ENSG00000165471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000363079 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502615 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502789 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373968 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674931 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675947 ENTREZGENE, 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
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collectin_CTLD UniProtKB/Swiss-Prot
  CTDL_fold UniProtKB/Swiss-Prot
  Mannose-binding_protein_C UniProtKB/Swiss-Prot
KEGG Report hsa:4153 UniProtKB/Swiss-Prot
NCBI Gene 4153 ENTREZGENE
OMIM 154545 OMIM
  614372 OMIM
PANTHER PTHR24024:SF34 UniProtKB/Swiss-Prot
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
UniProt B1PN75_HUMAN UniProtKB/TrEMBL
  MBL2_HUMAN UniProtKB/Swiss-Prot, 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    mannose-binding lectin (protein C) 2, soluble  Symbol and/or name change 5135510 APPROVED
2011-08-16 MBL2  mannose-binding lectin (protein C) 2, soluble  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