Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MASP2 (mannan binding lectin serine peptidase 2)

Identity

Alias_namesMASP1P1
mannan-binding lectin serine protease 2
mannan-binding lectin serine peptidase 1 pseudogene 1
mannan-binding lectin serine protease 1 pseudogene 1
Other aliasMAP19
MASP-2
sMAP
HGNC (Hugo) MASP2
LocusID (NCBI) 10747
Atlas_Id 46101
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11086580 and ends at 11107296 bp from pter ( according to hg19-Feb_2009)

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)MASP2   6902
LRG (Locus Reference Genomic)LRG_82
Cards
Entrez_Gene (NCBI)MASP2  10747  mannan binding lectin serine peptidase 2
AliasesMAP19; MASP-2; MASP1P1; sMAP
GeneCards (Weizmann)MASP2
Ensembl hg19 (Hinxton)ENSG00000009724 [Gene_View]  chr1:11086580-11107296 [Contig_View]  MASP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000009724 [Gene_View]  chr1:11086580-11107296 [Contig_View]  MASP2 [Vega]
ICGC DataPortalENSG00000009724
TCGA cBioPortalMASP2
AceView (NCBI)MASP2
Genatlas (Paris)MASP2
WikiGenes10747
SOURCE (Princeton)MASP2
Genetics Home Reference (NIH)MASP2
Genomic and cartography
GoldenPath hg19 (UCSC)MASP2  -     chr1:11086580-11107296 -  1p36.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MASP2  -     1p36.22   [Description]    (hg38-Dec_2013)
EnsemblMASP2 - 1p36.22 [CytoView hg19]  MASP2 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIMASP2 [Mapview hg19]  MASP2 [Mapview hg38]
OMIM605102   613791   
Gene and transcription
Genbank (Entrez)AB008047 AK290823 BC052299 BC067359 BC080556
RefSeq transcript (Entrez)NM_006610 NM_139208
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_007289 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)MASP2
Cluster EST : UnigeneHs.655645 [ NCBI ]
CGAP (NCI)Hs.655645
Alternative Splicing GalleryENSG00000009724
Gene ExpressionMASP2 [ NCBI-GEO ]   MASP2 [ EBI - ARRAY_EXPRESS ]   MASP2 [ SEEK ]   MASP2 [ MEM ]
Gene Expression Viewer (FireBrowse)MASP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10747
GTEX Portal (Tissue expression)MASP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00187   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00187  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00187
Splice isoforms : SwissVarO00187
Catalytic activity : Enzyme3.4.21.104 [ Enzyme-Expasy ]   3.4.21.1043.4.21.104 [ IntEnz-EBI ]   3.4.21.104 [ BRENDA ]   3.4.21.104 [ KEGG ]   
PhosPhoSitePlusO00187
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CUB (PS01180)    EGF_2 (PS01186)    EGF_CA (PS01187)    SUSHI (PS50923)    TRYPSIN_DOM (PS50240)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)CUB_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Pept_S1A_C1r/C1S/mannan-bd    Peptidase_S1_PA    Peptidase_S1A    Sushi_SCR_CCP_dom    Trypsin_dom    TRYPSIN_SER   
Domain families : Pfam (Sanger)CUB (PF00431)    EGF_CA (PF07645)    Sushi (PF00084)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00431    pfam07645    pfam00084    pfam00089   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  EGF_CA (SM00179)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)MASP2
DMDM Disease mutations10747
Blocks (Seattle)MASP2
PDB (SRS)1Q3X    1SZB    1ZJK    3TVJ    4FXG   
PDB (PDBSum)1Q3X    1SZB    1ZJK    3TVJ    4FXG   
PDB (IMB)1Q3X    1SZB    1ZJK    3TVJ    4FXG   
PDB (RSDB)1Q3X    1SZB    1ZJK    3TVJ    4FXG   
Structural Biology KnowledgeBase1Q3X    1SZB    1ZJK    3TVJ    4FXG   
SCOP (Structural Classification of Proteins)1Q3X    1SZB    1ZJK    3TVJ    4FXG   
CATH (Classification of proteins structures)1Q3X    1SZB    1ZJK    3TVJ    4FXG   
SuperfamilyO00187
Human Protein AtlasENSG00000009724
Peptide AtlasO00187
HPRD05484
IPIIPI00294713   IPI00306378   
Protein Interaction databases
DIP (DOE-UCLA)O00187
IntAct (EBI)O00187
FunCoupENSG00000009724
BioGRIDMASP2
STRING (EMBL)MASP2
ZODIACMASP2
Ontologies - Pathways
QuickGOO00187
Ontology : AmiGOcomplement component C4b binding  complement activation, lectin pathway  complement activation, lectin pathway  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  proteolysis  complement activation  complement activation, classical pathway  peptidase activity  calcium-dependent protein binding  extracellular exosome  
Ontology : EGO-EBIcomplement component C4b binding  complement activation, lectin pathway  complement activation, lectin pathway  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  proteolysis  complement activation  complement activation, classical pathway  peptidase activity  calcium-dependent protein binding  extracellular exosome  
Pathways : BIOCARTAComplement Pathway [Genes]    Lectin Induced Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Staphylococcus aureus infection   
NDEx NetworkMASP2
Atlas of Cancer Signalling NetworkMASP2
Wikipedia pathwaysMASP2
Orthology - Evolution
OrthoDB10747
GeneTree (enSembl)ENSG00000009724
Phylogenetic Trees/Animal Genes : TreeFamMASP2
HOVERGENO00187
HOGENOMO00187
Homologs : HomoloGeneMASP2
Homology/Alignments : Family Browser (UCSC)MASP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMASP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MASP2
dbVarMASP2
ClinVarMASP2
1000_GenomesMASP2 
Exome Variant ServerMASP2
ExAC (Exome Aggregation Consortium)MASP2 (select the gene name)
Genetic variants : HAPMAP10747
Genomic Variants (DGV)MASP2 [DGVbeta]
DECIPHER (Syndromes)1:11086580-11107296  ENSG00000009724
CONAN: Copy Number AnalysisMASP2 
Mutations
ICGC Data PortalMASP2 
TCGA Data PortalMASP2 
Broad Tumor PortalMASP2
OASIS PortalMASP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMASP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMASP2
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
BioMutasearch MASP2
DgiDB (Drug Gene Interaction Database)MASP2
DoCM (Curated mutations)MASP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MASP2 (select a term)
intoGenMASP2
Cancer3DMASP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605102    613791   
Orphanet21994   
MedgenMASP2
Genetic Testing Registry MASP2
NextProtO00187 [Medical]
TSGene10747
GENETestsMASP2
Huge Navigator MASP2 [HugePedia]
snp3D : Map Gene to Disease10747
BioCentury BCIQMASP2
ClinGenMASP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10747
Chemical/Pharm GKB GenePA30645
Clinical trialMASP2
Miscellaneous
canSAR (ICR)MASP2 (select the gene name)
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMASP2
EVEXMASP2
GoPubMedMASP2
iHOPMASP2
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 : Tue Mar 14 13:14:35 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.