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

ASAH2 Gene

protein-coding   GIFtS: 61
GCID: GC10M051944

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase)...
 Explore 28 diseases affiliated with
ASAH2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ASAH2    

Aliases
for ASAH2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     HCD1

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


Summaries
for ASAH2 gene

(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:
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)

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:
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. The expression of ceramides
increases in response to stressful stimuli, such as proapoptotic cytokines, cancer chemotherapeutic agents,
UV and ionizing radiation, vitamins such as retinoic acid, and serum deprivation.

Gene Wiki entry for ASAH2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  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 plasmid: ASAH2 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

Proteins
for ASAH2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • N-glycosylated. Required for enzyme activity (By similarity)1
  • O-glycosylated. Required to retain it as a type II membrane protein at the cell surface1
  • Phosphorylated. May prevent ubiquitination and subsequent degradation (By similarity)1
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by nitric oxid (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ASAH2 (ASAH2/N-acylsphingosine Amidohydrolase-2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: ASAH2
    OriGene Custom Protein Services for ASAH2 
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    Sino Biological Recombinant Protein for ASAH2
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for ASAH2

    Protein Domains /
    Families
    for ASAH2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASAH2 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for ASAH2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: ASAH2
    OriGene siRNA: ASAH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASAH2

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASAH2 (see all 5)
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    Sino Biological Human cDNA Clone for ASAH2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASAH2 

    Cell Line
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    Search LifeMap BioReagents cell lines for ASAH2

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAH2

    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


    Animal Models:
         Mouse knock-outs for ASAH2: Asah2tm1Rlp Asah2tm1Lex
         1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Asah2):
     homeostasis/metabolism 

    ASAH2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ASAH2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid metabolism0.54
    		Glycosphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3sphingosine and sphingosine-1-phosphate metabolism
    		sphingosine and sphingosine-1-phosphate metabolism1.00
    4ceramide degradation
    		ceramide degradation1.00
    5S-1P Stimulated Signaling
    		S-1P Stimulated Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    2 BioSystems Pathways for ASAH2 
        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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process TAS10781606
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006915apoptotic process IEA--


    ASAH2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASAH2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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]
    OleylethanolamideGPR55 agonist. Also PPARalpha agonist[111-58-0]

    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 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 

    Transcripts
    for ASAH2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395526(uc001jjd.3 uc009xos.3) ENST00000489640 ENST00000471435
    ENST00000329428 ENST00000474434 ENST00000447815 ENST00000443575

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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASAH2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASAH2

    Additional cDNA sequence: 

    AF250847.1 AF449759.2 BC107105.2 

    3 DOTS entries:

    DT.95368087  DT.101960569  DT.121268974 

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

    BG289059 CA312157 AA678828 BE387191 BG773189 W31646 CK904868 AI354800 
    BM798443 BQ651420 AA126977 BI859062 BU754593 BM055261 BM968207 CB158763 
    AA913512 BI459539 AI656964 AI693481 BX103367 BQ938026 BU187610 D17062 

    GeneLoc Exon Structure


    Expression
    for ASAH2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGTTGTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASAH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for ASAH2 gene

    (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 6/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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(85557-123952)
    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
    for ASAH2 gene

    (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



    Genomic Variants
    for ASAH2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/292 NCBI SNPs in ASAH2 are shown (see all 292)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1505996151,2
    		C--51946844(+) CAAAC-/TCTCTC 2 -- int10--------
    rs795505591,2
    		--51947657(+) TGTGTG/ATATAT 2 -- int11Minor allele frequency- A:0.00NA 2
    rs1886457861,2
    		--51948675(+) TCAAAC/TCTTCA 2 -- int10--------
    rs1915535311,2
    		--51948736(+) CTCTCC/TGGAGA 2 -- int10--------
    rs753205371,2
    		F,--51948737(+) TCTCCA/GGAGAA 2 -- int11Minor allele frequency- G:0.36WA 118
    rs1999679621,2
    		--51952509(+) ATAAAA/CGGTTT 2 -- int10--------
    rs1836692111,2
    		--51957790(+) AATATA/GTGCAA 2 -- int10--------
    rs1879876311,2
    		--51957838(+) TCAGTA/GACTAA 2 -- int10--------
    rs2000177701,2
    		--51958043(+) CTTTA-/TCTTGT 2 -- int10--------
    rs1824042371,2
    		--51966035(+) ATCCTA/GAGACA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ASAH2 (51944621 - 52008370 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ASAH2
         1 CNV: 75262
    Human Gene Mutation Database (HGMD): ASAH2

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    Disorders / Diseases
    for ASAH2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASAH2 for disorders           About GeneDecksing

    OMIM gene information: 611202    OMIM disorders: --

    20/28 diseases for ASAH2 (see all 28):    About MalaCards
    niemann-pick disease    farber lipogranulomatosis    lipogranulomatosis    pick's disease
    primitive neuroectodermal tumor    sphingolipidosis    gaucher's disease    neuroectodermal tumors
    obstructive jaundice    atopic dermatitis    jaundice    dermatitis
    cystic fibrosis    alzheimer's disease    protein s deficiency    prostate cancer
    fibrosis    thyroid carcinoma    thyroiditis    melanoma

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

    10/13 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ASAH2 (2 documents)

    Export disorders for ASAH2 gene to outside databases

    Publications
    for ASAH2 gene

    (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 118):
    (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. Identification of a novel amidase motif in neutral ceramidase. (PubMed id 16229686)1, 2 Galadari S.... Hannun Y.A. (2006)
    5. 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)
    6. Mechanisms of sphingosine and sphingosine 1-phosphate generation in human platelets. (PubMed id 16061940)1, 2 Tani M.... Igarashi Y. (2005)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    8. 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)
    9. Neutral ceramidase gene: role in regulating ceramide-induced apoptosis. (PubMed id 14557071)1, 2 Choi M.S....Mukherjee A.B. (2003)
    10. Cooperative prosurvival activity by ERK and Akt in human alveolar macrophages is dependent on high levels of acid ceramidase activity. (PubMed id 15210766)1, 9 Monick M.M....Hunninghake G.W. (2004)

    External Searches for ASAH2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ASAH2 gene

    (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

    Other Databases showing ASAH2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ASAH2 gene

    (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

    Intellectual Property
    for ASAH2 gene

    (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

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