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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASAH2 Gene

protein-coding   GIFtS: 62
GCID: GC10M051944

N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase)...

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 21 2     NCDase2 3
Acylsphingosine Deacylase 22 3     N-Acylsphingosine Amidohydrolase 22 3
Non-Lysosomal Ceramidase2 3     EC 3.5.1.233 8
BCDase2 3     Mitochondrial Ceramidase2
HNAC12 3     Neutral Ceramidase2
LCDase2 3     Neutral/Alkaline Ceramidase2
N-CDase2 3     hCD3

External Ids:    HGNC: 188601   Entrez Gene: 566242   Ensembl: ENSG000001886117   OMIM: 6112025   UniProtKB: Q9NR713   

Export aliases for ASAH2 gene to outside databases

Previous GC identifers: GC10M050790 GC10M051837 GC10M051291 GC10M051617 GC10M045946


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASAH2 Gene:
Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second
messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and
apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second
messenger (see MIM 603730) (Mitsutake et al., 2001 (PubMed 11328816)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ASAH2 Gene: 
ASAH2 (N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2) is a protein-coding gene. Diseases associated with ASAH2 include lipogranulomatosis, and sphingolipidosis, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include ceramidase activity. An important paralog of this gene is ASAH2C.

UniProtKB/Swiss-Prot: ASAH2_HUMAN, Q9NR71
Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5.
Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts
as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and
generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the
digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary
sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract

summary for ASAH2 Gene:
Ceramidases (EC 3.5.1.23) are a group of enzymes which catalyze the hydrolysis of ceramides to produce
sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P).
Ceramide and its downstream products, sphingosine and S1P, are bioactive lipids that mediate various
cellular processes including cell growth arrest, differentiation and apoptosis.

Gene Wiki entry for ASAH2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASAH2 gene promoter:
         p53   FOXD3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Ik-2   HFH-1   FOXJ2 (long isoform)   Chx10   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASAH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASAH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASAH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q11.21   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11.23

ASAH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASAH2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M051944:  view genomic region     (about GC identifiers)

Start:
51,944,621 bp from pter      End:
52,008,370 bp from pter
Size:
63,750 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASAH2_HUMAN, Q9NR71 (See protein sequence)
Recommended Name: Neutral ceramidase  
Size: 780 amino acids; 85516 Da
Subcellular location: Cell membrane; Single-pass type II membrane protein. Note=The neutral ceramidase soluble
form is a secreted protein. According to PubMed:10781606, it is mitochondrial. However, they used a shorter form
in its N-terminus, which may explain this localization which probably does not exist in vivo
Sequence caution: Sequence=AAL06061.1; Type=Erroneous initiation; Sequence=CAI15870.1; Type=Erroneous initiation;
Secondary accessions: Q3KNU1 Q5SNT7 Q5SZP6 Q5SZP7 Q5T1D5 Q71ME6
Alternative splicing: 2 isoforms:  Q9NR71-1   Q9NR71-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASAH2: NX_Q9NR71

Explore proteomics data for ASAH2 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated. Required for enzyme activity (By similarity)
  • UniProtKB: O-glycosylated. Required to retain it as a type II membrane protein at the cell surface
  • UniProtKB: Phosphorylated. May prevent ubiquitination and subsequent degradation (By similarity)
  • UniProtKB: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by nitric oxid (By
    similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NR71

  • 4/12 DME Specific Peptides for ASAH2 (Q9NR71) (see all 12)
     GPEPPFF  TCKPALG  TTMSGRR  WHIPDTA 

    ASAH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASAH2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001137446.1  NP_063946.2  

    ENSEMBL proteins: 
     ENSP00000378897   ENSP00000329886   ENSP00000388206   ENSP00000392766  
    Reactome Protein details: Q9NR71
    Human Recombinant Protein Products for ASAH2: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ASAH2
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    Sino Biological Recombinant Protein for ASAH2
    Sino Biological Cell Lysate for ASAH2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ASAH2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS10781606
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    ASAH2 for ontologies           About GeneDecksing



    ASAH2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR006823 Ceramidase_alk

    Graphical View of Domain Structure for InterPro Entry Q9NR71

    ProtoNet protein and cluster: Q9NR71

    UniProtKB/Swiss-Prot: ASAH2_HUMAN, Q9NR71
    Similarity: Belongs to the neutral ceramidase family


    ASAH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASAH2_HUMAN, Q9NR71
    Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5.
    Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts
    as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and
    generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the
    digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary
    sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract
    Catalytic activity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
    Enzyme regulation: Inhibited by dithiothreitol (DTT), 2-mercaptoethanol, Zn(2+), Cu(2+) and Fe(2+). Enhanced by
    Na(+) and Ca(2+), and at lower level Mg(2+) and Mn(2+)
    Biophysicochemical properties: Kinetic parameters: KM=71.4 uM for octanoyl-sphingosine; KM=66 uM for
    palmitoyl-sphingosine; KM=60.1 uM for D-erythro-C12-NBD-ceramide; Vmax=160 umol/min/mg enzyme with
    octanoyl-sphingosine as substrate; Vmax=16 umol/min/mg enzyme with palmitoyl-sphingosine as substrate; Vmax=0.68
    nmol/min/mg enzyme with D-erythro-C12-NBD-ceramide as substrate; pH dependence: Optimum pH is 7.5-9.5;

         Enzyme Number (IUBMB): EC 3.5.1.231 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017040ceramidase activity IEA--
         
    ASAH2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Asah2):
     homeostasis/metabolism 

    ASAH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ASAH2: Asah2tm1Rlp Asah2tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASAH2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASAH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASAH2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASAH2 

    miRNA
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    Inhib. RNA
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASAH2 (NM_001143974)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASAH2
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                         Customized lentivirus expression plasmids for stable overexpression of ASAH2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAH2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASAH2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3sphingosine and sphingosine-1-phosphate metabolism
    sphingosine and sphingosine-1-phosphate metabolism
    4ceramide degradation
    ceramide degradation
    5S-1P Stimulated Signaling
    S-1P Stimulated Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ASAH2
        S-1P Stimulated Signaling

    3 BioSystems Pathways for ASAH2
        Sphingolipid Metabolism
    sphingosine and sphingosine-1-phosphate metabolism
    ceramide degradation


    4        Reactome Pathways for ASAH2
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for ASAH2):
        Sphingolipid metabolism
    Metabolic pathways


    ASAH2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASAH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/25 Interacting proteins for ASAH2 (Q9NR713 ENSP000003788974) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARD6BQ9BYG53I2D: score=5 
    CERKENSP000002162644STRING: ENSP00000216264
    DEGS1ENSP000003164764STRING: ENSP00000316476
    DEGS2ENSP000003071264STRING: ENSP00000307126
    ENPP7ENSP000003326564STRING: ENSP00000332656
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process TAS10781606
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006915apoptotic process IEA--
    GO:0007165signal transduction TAS10781606

    ASAH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASAH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ASAH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ceranib 1Ceramidase inhibitor; antiproliferative[328076-61-5]

    10/121 HMDB Compounds for ASAH2 (see all 121)    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-OleoylethanolamineN-(2-Hydroxyethyl)oleamide (see all 9)111-58-012560208
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--

    9 Novoseek inferred chemical compound relationships for ASAH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramide 92.8 54 11104761 (3), 15802137 (2), 15088070 (2), 10627278 (2) (see all 41)
    sphingosine 89.2 24 15498114 (2), 15210766 (2), 12190867 (2), 15802137 (1) (see all 19)
    n-oleoylethanolamine 85.9 4 15088070 (2), 16942762 (1), 16563140 (1)
    glucosylceramide 77.1 3 16150832 (1), 7852294 (1)
    ceramides 71.6 2 12190867 (2)
    lauric acid 51.5 1 10527524 (1)
    desipramine 37.8 6 16901483 (5)
    fatty acid 31.4 8 18453694 (1), 18020949 (1), 7744740 (1), 10527524 (1) (see all 8)
    lipid 30.2 7 11104761 (2), 10959093 (1), 10527524 (1), 17064658 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about ASAH2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASAH2 gene (2 alternative transcripts): 
    NM_001143974.1  NM_019893.2  

    Unigene Cluster for ASAH2:

    N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
    Hs.512645  [show with all ESTs]
    Unigene Representative Sequence: NM_019893
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395526(uc001jjd.3 uc009xos.3) ENST00000489640 ENST00000329428
    ENST00000474434 ENST00000447815 ENST00000443575
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASAH2

    Additional mRNA sequence: 

    AF250847.1 AF449759.2 BC107105.2 

    3 DOTS entries:

    DT.95368087  DT.101960569  DT.121268974 

    24/48 AceView cDNA sequences (see all 48):

    BE387191 BG289059 AA678828 CA312157 BU754593 AI656964 CK904868 BI859062 
    BU187610 BQ651420 D17062 BX103367 AI354800 BI459539 AI693481 W31646 
    BG773189 BM055261 N94907 CB158763 BM968207 BU623353 AA126977 BM798443 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASAH2 expression in normal human tissues (normalized intensities)      ASAH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTTGTTA
    ASAH2 Expression
    About this image


    ASAH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             neonatal small intestine   
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules

    See ASAH2 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.512645

    UniProtKB/Swiss-Prot: ASAH2_HUMAN, Q9NR71
    Tissue specificity: Primarily expressed in the intestine (PubMed:17334805). Ubiquitously expressed with higher
    levels in kidney, skeletal muscle and heart (PubMed:10781606). According to PubMed:17334805, ubiquitous
    expression attributed to ASAH2 may be actually that of the paralog ASAH2B

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ASAH2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asah21 , 5 N-acylsphingosine amidohydrolase 21, 5 83(n)1
    81.32(a)1
      19 (26.58 cM)5
    544471  NM_018830.11  NP_061300.11 
     319846545 
    chicken
    (Gallus gallus)
    Aves ASAH21 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) more 68.81(n)
    69.59(a)
      423679  XM_421560.3  XP_421560.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    63(a)
    1 → many
    GL343902.1(84646-124007)
    zebrafish
    (Danio rerio)
    Actinopterygii asah21 N-acylsphingosine amidohydrolase 2 62.54(n)
    61.76(a)
      493602  NM_001007763.1  NP_001007764.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14713
    CDase1
    Ceramidase1 44(a)3
    52.36(n)1
    46.35(a)1
      436181  NM_143540.11  NP_651797.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G380101 neutral ceramidase 52.33(n)
    45.26(a)
      818379  NM_129358.3  NP_181337.2 
    rice
    (Oryza sativa)
    Liliopsida Os.6522 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.19(n)    AK069738.1 


    ENSEMBL Gene Tree for ASAH2 (if available)
    TreeFam Gene Tree for ASAH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASAH2 gene
    ASAH2C2  ASAH2B2  
    2 SIMAP similar genes for ASAH2 using alignment to 2 protein entries:     ASAH2_HUMAN (see all proteins):
    ASAH2C    ASAH2B

    ASAH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/381 SNPs in ASAH2 are shown (see all 381)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0270654
    ----see VAR_0270652 A S mis40--------
    rs1505996151,2
    C--51946844(+) CAAAC-/TCTCTC 2 -- int10--------
    rs795505591,2
    F--51947657(+) TGTGTG/ATATAT 2 -- int11Minor allele frequency- A:0.00NA 2
    rs1886457861,2
    C--51948675(+) TCAAAC/TCTTCA 2 -- int10--------
    rs1915535311,2
    --51948736(+) CTCTCC/TGGAGA 2 -- int10--------
    rs753205371,2
    C,F--51948737(+) TCTCCA/GGAGAA 2 -- int11Minor allele frequency- G:0.36WA 118
    rs1999679621,2
    --51952509(+) ATAAAA/CGGTTT 2 -- int10--------
    rs2017676821,2
    C--51954728(+) CCATGA/GTGTTG 2 -- int10--------
    rs3711746811,2
    C--51957487(+) ATTTGA/TTGTAA 2 -- int10--------
    rs3754897711,2
    C--51957632(+) TATAGG/TTTATG 2 -- int10--------

    HapMap Linkage Disequilibrium report for ASAH2 (51944621 - 52008370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ASAH2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv138e199CNV Deletion23128226
    nsv831868CNV Loss17160897
    nsv521271CNV Gain19592680
    nsv518071CNV Gain19592680


    Human Gene Mutation Database (HGMD): ASAH2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611202    OMIM disorders: --

    20/24 diseases for ASAH2 (see all 24):    About MalaCards
    lipogranulomatosis    sphingolipidosis    farber lipogranulomatosis    obstructive jaundice
    niemann-pick disease    pick's disease    gaucher's disease    jaundice
    protein s deficiency    primitive neuroectodermal tumor    atopic dermatitis    dermatitis
    alzheimer's disease    prostate cancer    cystic fibrosis    hypoxia
    tuberculosis    melanoma    prostatitis    thyroiditis

    1 disease from the University of Copenhagen DISEASES database for ASAH2:
    Farber lipogranulomatosis

    ASAH2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/13 Novoseek inferred disease relationships for ASAH2 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipogranulomatosis 95.8 3 9645089 (1), 17264167 (1), 18020949 (1)
    sphingolipidoses 74.2 2 11934514 (1), 10491988 (1)
    subcutaneous nodule 69.6 1 12015727 (1)
    niemann-pick diseases 66.5 1 12815059 (1)
    niemann-picks disease type c 53.2 1 10491988 (1)
    gaucher disease 34.2 1 10491988 (1)
    cancer 26.7 4 17981711 (2), 18691012 (1), 16901483 (1)
    prostate cancer 20.4 9 19107118 (2), 16887394 (2), 14968439 (1), 19874262 (1) (see all 5)
    tumors 13.8 6 19874262 (2), 16803890 (1), 10974027 (1), 19105609 (1)
    alzheimers disease 7.78 1 15610181 (1)

    Genetic Association Database (GAD): ASAH2
    Human Genome Epidemiology (HuGE) Navigator: ASAH2 (2 documents)

    Export disorders for ASAH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASAH2 gene, integrated from 9 sources (see all 121):
    (articles sorted by number of sources associating them with ASAH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a human mitochondrial ceramidase. (PubMed id 10781606)1, 2, 3, 9 El Bawab S....Hannun Y.A. (2000)
    2. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. (PubMed id 15845354)1, 2, 9 Hwang Y.H.... Ito M. (2005)
    3. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PubMed id 17334805)1, 2, 9 Avramopoulos D.... Bassett S.S. (2007)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Identification of a novel amidase motif in neutral ceramidase. (PubMed id 16229686)1, 2 Galadari S.... Hannun Y.A. (2006)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    7. Roles for C16-ceramide and sphingosine 1-phosphate in regulating hepatocyte apoptosis in response to tumor necrosis factor-alpha. (PubMed id 15946935)1, 2 Osawa Y....Brenner D.A. (2005)
    8. Mechanisms of sphingosine and sphingosine 1-phosphate generation in human platelets. (PubMed id 16061940)1, 2 Tani M.... Igarashi Y. (2005)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56624 HGNC: 18860 AceView: ASAH2.1 Ensembl:ENSG00000188611 euGenes: HUgn56624
    ECgene: ASAH2 Kegg: 56624 H-InvDB: ASAH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASAH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASAH2 gene:
    Search GeneIP for patents involving ASAH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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