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HPSE2 (heparanase 2 (inactive))

Identity

Alias_namesUFS
urofacial syndrome
heparanase 2
Alias_symbol (synonym)HPA2
HPR2
HGNC (Hugo) HPSE2
LocusID (NCBI) 60495
Atlas_Id 46219
Location 10q24.2  [Link to chromosome band 10q24]
Location_base_pair Starts at 100216834 and ends at 100995632 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HPSE2 (10q24.2) / CWF19L1 (10q24.31)HPSE2 10q24.2 / CWF19L1 10q24.31

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)HPSE2   18374
Cards
Entrez_Gene (NCBI)HPSE2  60495  heparanase 2 (inactive)
AliasesHPA2; HPR2; UFS; UFS1
GeneCards (Weizmann)HPSE2
Ensembl hg19 (Hinxton)ENSG00000172987 [Gene_View]  chr10:100216834-100995632 [Contig_View]  HPSE2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172987 [Gene_View]  chr10:100216834-100995632 [Contig_View]  HPSE2 [Vega]
ICGC DataPortalENSG00000172987
TCGA cBioPortalHPSE2
AceView (NCBI)HPSE2
Genatlas (Paris)HPSE2
WikiGenes60495
SOURCE (Princeton)HPSE2
Genetics Home Reference (NIH)HPSE2
Genomic and cartography
GoldenPath hg19 (UCSC)HPSE2  -     chr10:100216834-100995632 -  10q24.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HPSE2  -     10q24.2   [Description]    (hg38-Dec_2013)
EnsemblHPSE2 - 10q24.2 [CytoView hg19]  HPSE2 - 10q24.2 [CytoView hg38]
Mapping of homologs : NCBIHPSE2 [Mapview hg19]  HPSE2 [Mapview hg38]
OMIM236730   613469   
Gene and transcription
Genbank (Entrez)AF282885 AF282886 AF282887 AJ299719 AJ299720
RefSeq transcript (Entrez)NM_001166244 NM_001166245 NM_001166246 NM_021828
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_023416 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)HPSE2
Cluster EST : UnigeneHs.689544 [ NCBI ]
CGAP (NCI)Hs.689544
Alternative Splicing GalleryENSG00000172987
Gene ExpressionHPSE2 [ NCBI-GEO ]   HPSE2 [ EBI - ARRAY_EXPRESS ]   HPSE2 [ SEEK ]   HPSE2 [ MEM ]
Gene Expression Viewer (FireBrowse)HPSE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60495
GTEX Portal (Tissue expression)HPSE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WWQ2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WWQ2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WWQ2
Splice isoforms : SwissVarQ8WWQ2
PhosPhoSitePlusQ8WWQ2
Domains : Interpro (EBI)Glyco_hydro_79    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Glyco_hydro_79n (PF03662)   
Domain families : Pfam (NCBI)pfam03662   
Conserved Domain (NCBI)HPSE2
DMDM Disease mutations60495
Blocks (Seattle)HPSE2
SuperfamilyQ8WWQ2
Human Protein AtlasENSG00000172987
Peptide AtlasQ8WWQ2
HPRD13669
IPIIPI00029594   IPI00642713   IPI00157363   IPI00157364   
Protein Interaction databases
DIP (DOE-UCLA)Q8WWQ2
IntAct (EBI)Q8WWQ2
FunCoupENSG00000172987
BioGRIDHPSE2
STRING (EMBL)HPSE2
ZODIACHPSE2
Ontologies - Pathways
QuickGOQ8WWQ2
Ontology : AmiGOproteinaceous extracellular matrix  intracellular  plasma membrane  carbohydrate metabolic process  glycosaminoglycan catabolic process  biological_process  positive regulation of cell proliferation  extracellular matrix organization  heparanase activity  heparanase activity  heparan sulfate proteoglycan binding  
Ontology : EGO-EBIproteinaceous extracellular matrix  intracellular  plasma membrane  carbohydrate metabolic process  glycosaminoglycan catabolic process  biological_process  positive regulation of cell proliferation  extracellular matrix organization  heparanase activity  heparanase activity  heparan sulfate proteoglycan binding  
Pathways : KEGGGlycosaminoglycan degradation    Proteoglycans in cancer   
NDEx NetworkHPSE2
Atlas of Cancer Signalling NetworkHPSE2
Wikipedia pathwaysHPSE2
Orthology - Evolution
OrthoDB60495
GeneTree (enSembl)ENSG00000172987
Phylogenetic Trees/Animal Genes : TreeFamHPSE2
HOVERGENQ8WWQ2
HOGENOMQ8WWQ2
Homologs : HomoloGeneHPSE2
Homology/Alignments : Family Browser (UCSC)HPSE2
Gene fusions - Rearrangements
Fusion : MitelmanHPSE2/CWF19L1 [10q24.2/10q24.31]  
Fusion: TCGAHPSE2 10q24.2 CWF19L1 10q24.31 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPSE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPSE2
dbVarHPSE2
ClinVarHPSE2
1000_GenomesHPSE2 
Exome Variant ServerHPSE2
ExAC (Exome Aggregation Consortium)HPSE2 (select the gene name)
Genetic variants : HAPMAP60495
Genomic Variants (DGV)HPSE2 [DGVbeta]
DECIPHER (Syndromes)10:100216834-100995632  ENSG00000172987
CONAN: Copy Number AnalysisHPSE2 
Mutations
ICGC Data PortalHPSE2 
TCGA Data PortalHPSE2 
Broad Tumor PortalHPSE2
OASIS PortalHPSE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPSE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPSE2
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)Mendelian genes
BioMutasearch HPSE2
DgiDB (Drug Gene Interaction Database)HPSE2
DoCM (Curated mutations)HPSE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPSE2 (select a term)
intoGenHPSE2
Cancer3DHPSE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236730    613469   
Orphanet2465   
MedgenHPSE2
Genetic Testing Registry HPSE2
NextProtQ8WWQ2 [Medical]
TSGene60495
GENETestsHPSE2
Huge Navigator HPSE2 [HugePedia]
snp3D : Map Gene to Disease60495
BioCentury BCIQHPSE2
ClinGenHPSE2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60495
Chemical/Pharm GKB GenePA38533
Clinical trialHPSE2
Miscellaneous
canSAR (ICR)HPSE2 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPSE2
EVEXHPSE2
GoPubMedHPSE2
iHOPHPSE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:39:46 CET 2016

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