ENSG00000165471


Homo sapiens

Features
Gene ID: ENSG00000165471
  
Biological name :MBL2
  
Synonyms : mannose binding lectin 2 / MBL2 / P11226
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q21.1
Gene start: 52765380
Gene end: 52771700
  
Corresponding Affymetrix probe sets: 207256_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363079
NCBI entrez gene - 4153     See in Manteia.
OMIM - 154545
RefSeq - XM_011539816
RefSeq - NM_000242
RefSeq - XM_006717861
RefSeq Peptide - NP_000233
swissprot - P11226
Ensembl - ENSG00000165471
  
Related genetic diseases (OMIM): 614372 - {Chronic infections, due to MBL deficiency}, 614372
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hbl1ENSDARG00000068221Danio rerio
 hbl2ENSDARG00000094681Danio rerio
 hbl4ENSDARG00000054202Danio rerio
 mbl2ENSDARG00000068220Danio rerio
 MBL2ENSGALG00000002507Gallus gallus
 Mbl2ENSMUSG00000024863Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SFTPD / P35247 / surfactant protein DENSG0000013366144
Q8IWL2 / SFTPA1 / surfactant protein A1ENSG0000012285235
Q8IWL1 / SFTPA2 / surfactant protein A2ENSG0000018530334
Q9Y6Z7 / COLEC10 / collectin subfamily member 10ENSG0000018437431
Q9BWP8 / COLEC11 / collectin subfamily member 11ENSG0000011800429


Protein motifs (from Interpro)
Interpro ID Name
 IPR001304  C-type lectin-like
 IPR008160  Collagen triple helix repeat
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR018378  C-type lectin, conserved site
 IPR033990  Collectin, C-type lectin-like domain
 IPR037570  Mannose-binding protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001867 complement activation, lectin pathway IDA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006953 acute-phase response TAS
 biological_processGO:0006956 complement activation TAS
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0006979 response to oxidative stress NAS
 biological_processGO:0008228 opsonization TAS
 biological_processGO:0042742 defense response to bacterium TAS
 biological_processGO:0044130 negative regulation of growth of symbiont in host IDA
 biological_processGO:0045087 innate immune response IDA
 biological_processGO:0048525 negative regulation of viral process IDA
 biological_processGO:0050766 positive regulation of phagocytosis IEA
 biological_processGO:0050830 defense response to Gram-positive bacterium IDA
 biological_processGO:0051873 killing by host of symbiont cells IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0009986 cell surface TAS
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005509 calcium ion binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005537 mannose binding TAS
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0048306 calcium-dependent protein binding IPI


Pathways (from Reactome)
Pathway description
Lectin pathway of complement activation
Initial triggering of complement


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127241 MASP1 / P48740 / mannan binding lectin serine peptidase 1  / complex
 ENSG00000009724 MASP2 / O00187 / mannan binding lectin serine peptidase 2  / complex
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / reaction
 ENSG00000165471 MBL2 / P11226 / mannose binding lectin 2  / complex
 ENSG00000166278 C2 / P06681 / complement C2  / reaction
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / reaction






 

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