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ASAH2B Gene

protein-coding   GIFtS: 36
GCID: GC10P052499

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

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2B1 2     ASAH2C2 5
ASAH2L2 3 5     bA449O16.32
Putative Inactive N-Acylsphingosine Amidohydrolase 2B2 3     Putative Inactive Neutral Ceramidase B2
Putative Inactive Non-Lysosomal Ceramidase B2 3     EC 3.5.1.238
ASAH2-Like Protein2 3     

External Ids:    HGNC: 234561   Entrez Gene: 6533082   Ensembl: ENSG000002041477   OMIM: 6109875   UniProtKB: P0C7U13   

Export aliases for ASAH2B gene to outside databases

Previous GC identifers: GC00U914492 GC10U900594 GC10P052169 GC10P046471


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ASAH2B Gene:
ASAH2B (N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B) is a protein-coding gene. An important paralog of this gene is ASAH2C.

summary for ASAH2B 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 ASAH2B 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ASAH2B gene promoter:
         Pbx1a   Tal-1   AML1a   POU6F1 (c2)   Tal-1beta   E47   Max   Sox9   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ASAH2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASAH2B


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

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

ASAH2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASAH2B gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P052499:  view genomic region     (about GC identifiers)

Start:
52,499,078 bp from pter      End:
52,576,255 bp from pter
Size:
77,178 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ASA2B_HUMAN, P0C7U1 (See protein sequence)
Recommended Name: Putative inactive neutral ceramidase B  
Size: 165 amino acids; 19025 Da
Miscellaneous: ASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on
chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence
plus other putative translation start site that might lead to several potential ORFs
Caution: In contrast to other members of the family, ASAH2B has no predicted transmembrane domain, and lacks the
active site, suggesting that it may be catalytically inactive

Explore the universe of human proteins at neXtProt for ASAH2B: NX_P0C7U1

Explore proteomics data for ASAH2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ASAH2B (P0C7U1)
     WHIPDTA  NDASWETRF 


    See ASAH2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001072984.1  
    ENSEMBL proteins: 
     ENSP00000363119   ENSP00000363118   ENSP00000185907  

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

    Graphical View of Domain Structure for InterPro Entry P0C7U1

    ProtoNet protein and cluster: P0C7U1

    UniProtKB/Swiss-Prot: ASA2B_HUMAN, P0C7U1
    Similarity: Belongs to the neutral ceramidase family


    Find genes that share domains with ASAH2B           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Number (IUBMB): EC 3.5.1.232

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion4
    cytosol1
    nucleus1
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASAH2B
    Interactions:

        Search GeneGlobe Interaction Network for ASAH2B

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ASAH2B (ENSP000001859074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ASAH2B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ceranib 1Ceramidase inhibitor; antiproliferative[328076-61-5]



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ASAH2B gene: 
    NM_001079516.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374007 ENST00000374006(uc001jjg.3) ENST00000483649 ENST00000185907(uc010qhm.2)

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    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASAH2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ASAH2B Expression
    About this image

    ASAH2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASAH2B Protein Expression

    UniProtKB/Swiss-Prot: ASA2B_HUMAN, P0C7U1
    Tissue specificity: Ubiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease
    (LOAD) patients. This reduction is even more pronounced in patients with an affected mother

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASAH2B gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    11(a)
    1 → many
    6(9303237-9320280)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    13(a)
    1 → many
    GL343902.1(84646-124007)
    zebrafish
    (Danio rerio)
    Actinopterygii asah26
    N-acylsphingosine amidohydrolase 2
    11(a)
    1 → many
    12(6801178-6826667) ENSDARG00000012829
    fruit fly
    (Drosophila melanogaster)
    Insecta CDase6
    Ceramidase
    7(a)
    1 → many
    3R(26285243-26291458)
            Species with no ortholog for ASAH2B

    ENSEMBL Gene Tree for ASAH2B (if available)
    TreeFam Gene Tree for ASAH2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASAH2B gene
    ASAH2C2  ASAH22  
    2 SIMAP similar genes for ASAH2B using alignment to 2 protein entries:     ASA2B_HUMAN (see all proteins):
    ASAH2    ASAH2C

    Find genes that share paralogs with ASAH2B           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASAH2B (see all 339)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876176921,2
    --46474389(+) ATTTTC/TATCAT 1 -- int10--------
    rs24757181,2
    C--46474407(+) tgcagG/Agttta 1 -- int11Minor allele frequency- A:0.50NA 2
    rs24757191,2
    C--46474487(+) TCCCAG/ATATCA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs618621861,2
    C--46474523(+) CTCCCC/G/TGCTCC 1 -- int10--------
    rs801217741,2
    C--46474523(+) CTCCCC/TGCTCC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1918521181,2
    --46474695(+) CTGTGC/TCCCAT 1 -- int10--------
    rs24757211,2
    C--46474741(+) AACCAG/CGATAT 1 -- int11Minor allele frequency- C:0.50NA 2
    rs712302151,2
    --46474741(-) ATATCG/CTGGTT 1 -- int11Minor allele frequency- C:0.50NA 2
    rs712302141,2
    --46474787(-) GGGAAC/ACCCCC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1469364591,2
    C--46474793(+) TTCCCA/GAGAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ASAH2B (52499078 - 52576255 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ASAH2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv895393CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610987    OMIM disorders: --


    Find genes that share disorders with ASAH2B           About GenesLikeMe


    Export disorders for ASAH2B 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)
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    PubMed articles for ASAH2B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ASAH2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PubMed id 17334805)1, 2, 3 Avramopoulos D.... Bassett S.S. (Neurogenetics 2007)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 653308 HGNC: 23456 Ensembl:ENSG00000204147 euGenes: HUgn653308 ECgene: ASAH2B
    H-InvDB: ASAH2B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ASAH2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASAH2B gene:
    Search GeneIP for patents involving ASAH2B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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