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ASAH2 (N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2)

Identity

Alias_namesN-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
Other aliasBCDase
HNAC1
LCDase
N-CDase
NCDase
HGNC (Hugo) ASAH2
LocusID (NCBI) 56624
Atlas_Id 54137
Location 10q11.23  [Link to chromosome band 10q11]
Location_base_pair Starts at 51947000 and ends at 52008370 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NT5C2 (10q24.32) / ASAH2 (10q11.23)

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)ASAH2   18860
Cards
Entrez_Gene (NCBI)ASAH2  56624  N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
AliasesBCDase; HNAC1; LCDase; N-CDase; 
NCDase
GeneCards (Weizmann)ASAH2
Ensembl hg19 (Hinxton)ENSG00000188611 [Gene_View]  chr10:51947000-52008370 [Contig_View]  ASAH2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000188611 [Gene_View]  chr10:51947000-52008370 [Contig_View]  ASAH2 [Vega]
ICGC DataPortalENSG00000188611
TCGA cBioPortalASAH2
AceView (NCBI)ASAH2
Genatlas (Paris)ASAH2
WikiGenes56624
SOURCE (Princeton)ASAH2
Genetics Home Reference (NIH)ASAH2
Genomic and cartography
GoldenPath hg19 (UCSC)ASAH2  -     chr10:51947000-52008370 -  10q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ASAH2  -     10q11.23   [Description]    (hg38-Dec_2013)
EnsemblASAH2 - 10q11.23 [CytoView hg19]  ASAH2 - 10q11.23 [CytoView hg38]
Mapping of homologs : NCBIASAH2 [Mapview hg19]  ASAH2 [Mapview hg38]
OMIM611202   
Gene and transcription
Genbank (Entrez)AF250847 AF449759 BC107105 BG289059
RefSeq transcript (Entrez)NM_001143974 NM_019893
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)ASAH2
Cluster EST : UnigeneHs.512645 [ NCBI ]
CGAP (NCI)Hs.512645
Alternative Splicing GalleryENSG00000188611
Gene ExpressionASAH2 [ NCBI-GEO ]   ASAH2 [ EBI - ARRAY_EXPRESS ]   ASAH2 [ SEEK ]   ASAH2 [ MEM ]
Gene Expression Viewer (FireBrowse)ASAH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56624
GTEX Portal (Tissue expression)ASAH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR71   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR71  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR71
Splice isoforms : SwissVarQ9NR71
Catalytic activity : Enzyme3.5.1.23 [ Enzyme-Expasy ]   3.5.1.233.5.1.23 [ IntEnz-EBI ]   3.5.1.23 [ BRENDA ]   3.5.1.23 [ KEGG ]   
PhosPhoSitePlusQ9NR71
Domains : Interpro (EBI)Ceramidase_alk    NEUT/ALK_ceramidase_C    NEUT/ALK_ceramidase_N   
Domain families : Pfam (Sanger)Ceramidase_alk (PF04734)    Ceramidse_alk_C (PF17048)   
Domain families : Pfam (NCBI)pfam04734    pfam17048   
Conserved Domain (NCBI)ASAH2
DMDM Disease mutations56624
Blocks (Seattle)ASAH2
PDB (SRS)4WGK   
PDB (PDBSum)4WGK   
PDB (IMB)4WGK   
PDB (RSDB)4WGK   
Structural Biology KnowledgeBase4WGK   
SCOP (Structural Classification of Proteins)4WGK   
CATH (Classification of proteins structures)4WGK   
SuperfamilyQ9NR71
Human Protein AtlasENSG00000188611
Peptide AtlasQ9NR71
IPIIPI00419967   IPI00645992   IPI00871505   IPI00942753   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR71
IntAct (EBI)Q9NR71
FunCoupENSG00000188611
BioGRIDASAH2
STRING (EMBL)ASAH2
ZODIACASAH2
Ontologies - Pathways
QuickGOQ9NR71
Ontology : AmiGOmitochondrion  plasma membrane  ceramide metabolic process  apoptotic process  signal transduction  integral component of membrane  ceramidase activity  
Ontology : EGO-EBImitochondrion  plasma membrane  ceramide metabolic process  apoptotic process  signal transduction  integral component of membrane  ceramidase activity  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkASAH2
Atlas of Cancer Signalling NetworkASAH2
Wikipedia pathwaysASAH2
Orthology - Evolution
OrthoDB56624
GeneTree (enSembl)ENSG00000188611
Phylogenetic Trees/Animal Genes : TreeFamASAH2
HOVERGENQ9NR71
HOGENOMQ9NR71
Homologs : HomoloGeneASAH2
Homology/Alignments : Family Browser (UCSC)ASAH2
Gene fusions - Rearrangements
Fusion : MitelmanNT5C2/ASAH2 [10q24.32/10q11.23]  [del(10)(q11q24)]  [del(10)(q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASAH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASAH2
dbVarASAH2
ClinVarASAH2
1000_GenomesASAH2 
Exome Variant ServerASAH2
ExAC (Exome Aggregation Consortium)ASAH2 (select the gene name)
Genetic variants : HAPMAP56624
Genomic Variants (DGV)ASAH2 [DGVbeta]
DECIPHER (Syndromes)10:51947000-52008370  ENSG00000188611
CONAN: Copy Number AnalysisASAH2 
Mutations
ICGC Data PortalASAH2 
TCGA Data PortalASAH2 
Broad Tumor PortalASAH2
OASIS PortalASAH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASAH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASAH2
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ASAH2
DgiDB (Drug Gene Interaction Database)ASAH2
DoCM (Curated mutations)ASAH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASAH2 (select a term)
intoGenASAH2
Cancer3DASAH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611202   
Orphanet
MedgenASAH2
Genetic Testing Registry ASAH2
NextProtQ9NR71 [Medical]
TSGene56624
GENETestsASAH2
Huge Navigator ASAH2 [HugePedia]
snp3D : Map Gene to Disease56624
BioCentury BCIQASAH2
ClinGenASAH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56624
Chemical/Pharm GKB GenePA38720
Clinical trialASAH2
Miscellaneous
canSAR (ICR)ASAH2 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASAH2
EVEXASAH2
GoPubMedASAH2
iHOPASAH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:53:10 CEST 2017

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