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MBL2 (mannose binding lectin 2)

Identity

Alias (NCBI)COLEC1
HSMBPC
MBL
MBL2D
MBP
MBP-C
MBP1
MBPD
HGNC (Hugo) MBL2
HGNC Alias symbCOLEC1
HGNC Previous nameMBL
HGNC Previous namemannose-binding lectin (protein C) 2, soluble (opsonic defect)
 mannose-binding lectin (protein C) 2, soluble
LocusID (NCBI) 4153
Atlas_Id 45890
Location 10q21.1  [Link to chromosome band 10q21]
Location_base_pair Starts at 52765380 and ends at 52771700 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

Nomenclature
HGNC (Hugo)MBL2   6922
LRG (Locus Reference Genomic)LRG_154
Cards
Entrez_Gene (NCBI)MBL2    mannose binding lectin 2
AliasesCOLEC1; HSMBPC; MBL; MBL2D; 
MBP; MBP-C; MBP1; MBPD
GeneCards (Weizmann)MBL2
Ensembl hg19 (Hinxton)ENSG00000165471 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165471 [Gene_View]  ENSG00000165471 [Sequence]  chr10:52765380-52771700 [Contig_View]  MBL2 [Vega]
ICGC DataPortalENSG00000165471
TCGA cBioPortalMBL2
AceView (NCBI)MBL2
Genatlas (Paris)MBL2
SOURCE (Princeton)MBL2
Genetics Home Reference (NIH)MBL2
Genomic and cartography
GoldenPath hg38 (UCSC)MBL2  -     chr10:52765380-52771700 -  10q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBL2  -     10q21.1   [Description]    (hg19-Feb_2009)
GoldenPathMBL2 - 10q21.1 [CytoView hg19]  MBL2 - 10q21.1 [CytoView hg38]
ImmunoBaseENSG00000165471
genome Data Viewer NCBIMBL2 [Mapview hg19]  
OMIM154545   614372   
Gene and transcription
Genbank (Entrez)AF360991 AY826184 BC069338 BC096179 BC096180
RefSeq transcript (Entrez)NM_000242 NM_001378373 NM_001378374
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBL2
Alternative Splicing GalleryENSG00000165471
Gene ExpressionMBL2 [ NCBI-GEO ]   MBL2 [ EBI - ARRAY_EXPRESS ]   MBL2 [ SEEK ]   MBL2 [ MEM ]
Gene Expression Viewer (FireBrowse)MBL2 [ Firebrowse - Broad ]
GenevisibleExpression of MBL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4153
GTEX Portal (Tissue expression)MBL2
Human Protein AtlasENSG00000165471-MBL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11226   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11226  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11226
Splice isoforms : SwissVarP11226
PhosPhoSitePlusP11226
Domaine pattern : Prosite (Expaxy)C_TYPE_LECTIN_1 (PS00615)    C_TYPE_LECTIN_2 (PS50041)   
Domains : Interpro (EBI)C-type_lectin-like    C-type_lectin-like/link_sf    C-type_lectin_CS    Collagen    Collectin_CTLD    CTDL_fold    Mannose-binding_protein_C   
Domain families : Pfam (Sanger)Collagen (PF01391)    Lectin_C (PF00059)   
Domain families : Pfam (NCBI)pfam01391    pfam00059   
Domain families : Smart (EMBL)CLECT (SM00034)  
Conserved Domain (NCBI)MBL2
Blocks (Seattle)MBL2
PDB (RSDB)1HUP   
PDB Europe1HUP   
PDB (PDBSum)1HUP   
PDB (IMB)1HUP   
Structural Biology KnowledgeBase1HUP   
SCOP (Structural Classification of Proteins)1HUP   
CATH (Classification of proteins structures)1HUP   
SuperfamilyP11226
Human Protein Atlas [tissue]ENSG00000165471-MBL2 [tissue]
Peptide AtlasP11226
HPRD01107
IPIIPI00004373   
Protein Interaction databases
DIP (DOE-UCLA)P11226
IntAct (EBI)P11226
BioGRIDMBL2
STRING (EMBL)MBL2
ZODIACMBL2
Ontologies - Pathways
QuickGOP11226
Ontology : AmiGOcomplement activation, lectin pathway  complement activation, lectin pathway  complement activation, lectin pathway  signaling receptor binding  protein binding  mannose binding  mannose binding  mannose binding  extracellular region  collagen trimer  extracellular space  extracellular space  acute-phase response  complement activation  complement activation, classical pathway  response to oxidative stress  opsonization  cell surface  defense response to bacterium  innate immune response  calcium-dependent protein binding  negative regulation of viral process  positive regulation of phagocytosis  defense response to Gram-positive bacterium  killing by host of symbiont cells  collagen-containing extracellular matrix  
Ontology : EGO-EBIcomplement activation, lectin pathway  complement activation, lectin pathway  complement activation, lectin pathway  signaling receptor binding  protein binding  mannose binding  mannose binding  mannose binding  extracellular region  collagen trimer  extracellular space  extracellular space  acute-phase response  complement activation  complement activation, classical pathway  response to oxidative stress  opsonization  cell surface  defense response to bacterium  innate immune response  calcium-dependent protein binding  negative regulation of viral process  positive regulation of phagocytosis  defense response to Gram-positive bacterium  killing by host of symbiont cells  collagen-containing extracellular matrix  
Pathways : KEGGPhagosome    Complement and coagulation cascades    Staphylococcus aureus infection   
NDEx NetworkMBL2
Atlas of Cancer Signalling NetworkMBL2
Wikipedia pathwaysMBL2
Orthology - Evolution
OrthoDB4153
GeneTree (enSembl)ENSG00000165471
Phylogenetic Trees/Animal Genes : TreeFamMBL2
HOGENOMP11226
Homologs : HomoloGeneMBL2
Homology/Alignments : Family Browser (UCSC)MBL2
Gene fusions - Rearrangements
Fusion : QuiverMBL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBL2 [hg38]
dbVarMBL2
ClinVarMBL2
MonarchMBL2
1000_GenomesMBL2 
Exome Variant ServerMBL2
GNOMAD BrowserENSG00000165471
Varsome BrowserMBL2
Genomic Variants (DGV)MBL2 [DGVbeta]
DECIPHERMBL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBL2 
Mutations
ICGC Data PortalMBL2 
TCGA Data PortalMBL2 
Broad Tumor PortalMBL2
OASIS PortalMBL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMBL2
Mutations and Diseases : HGMDMBL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch MBL2
DgiDB (Drug Gene Interaction Database)MBL2
DoCM (Curated mutations)MBL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBL2 (select a term)
intoGenMBL2
Cancer3DMBL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM154545    614372   
Orphanet23617   
DisGeNETMBL2
MedgenMBL2
Genetic Testing Registry MBL2
NextProtP11226 [Medical]
GENETestsMBL2
Target ValidationMBL2
Huge Navigator MBL2 [HugePedia]
ClinGenMBL2
Clinical trials, drugs, therapy
MyCancerGenomeMBL2
Protein Interactions : CTD
Pharm GKB GenePA30665
PharosP11226
Clinical trialMBL2
Miscellaneous
canSAR (ICR)MBL2 (select the gene name)
HarmonizomeMBL2
DataMed IndexMBL2
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMBL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:24:17 CET 2021

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