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

ASAH2B Gene

protein-coding   GIFtS: 40
GCID: GC10P052499

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase)...

 Explore 3 diseases affiliated with
ASAH2B via our new
 Human Malady Compendium 
Biological research products
for ASAH2B
    

(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) 2B1 2     ASAH2-Like Protein2 3
ASAH2L1 2 3 5     ASAH2C2 5
BA449O16.31     Putative Inactive Neutral Ceramidase B2
Putative Inactive N-Acylsphingosine Amidohydrolase 2B2 3     EC 3.5.1.238
Putative Inactive Non-Lysosomal Ceramidase B2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Gene Wiki entry for ASAH2B


(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 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 SABiosciences Chromatin IP Primers for ASAH2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P0C7U1

  • 2 DME Specific Peptides for ASAH2B (P0C7U1)
     WHIPDTA  NDASWETRF 

    ASAH2B Protein expression data from MOPED and PaxDb:    About this image 
    ASAH2B Protein Expression
    REFSEQ proteins: NP_001072984.1  
    ENSEMBL proteins: 
     ENSP00000363119   ENSP00000363118   ENSP00000185907  

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

    ASAH2B for domains           About GeneDecksing

    1 InterPro domain/family:
     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


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

         Enzyme Number (IUBMB): EC 3.5.1.232

    Animal Models:
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    (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
    1sphingosine and sphingosine-1-phosphate metabolism
    sphingosine and sphingosine-1-phosphate metabolism1.00
    2ceramide degradation
    ceramide degradation1.00


    2 BioSystems Pathways for ASAH2B 
        sphingosine and sphingosine-1-phosphate metabolism
    ceramide degradation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ASAH2B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ceranib 1Ceramidase inhibitor; antiproliferative[328076-61-5]
    OleylethanolamideGPR55 agonist. Also PPARalpha agonist[111-58-0]
    Search CenterWatch for drugs/clinical trials and news about ASAH2B / ASA2B 

    (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,
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    About This Section

    REFSEQ mRNAs for ASAH2B gene: 
    NM_001079516.2  

    Unigene Cluster for ASAH2B:

    N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B
    Hs.710005  [show with all ESTs]
    Unigene Representative Sequence: AK294369
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374007 ENST00000374006(uc001jjg.3) ENST00000483649 ENST00000185907(uc010qhm.2)


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    Additional cDNA sequence: AK294369.1 

    4 DOTS entries:

    DT.101960569  DT.40299275  DT.121268974  DT.95368087 

    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

    ASAH2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    ASAH2B Expression
    About this image
    See ASAH2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASAH2B

    SOURCE GeneReport for Unigene cluster: Hs.710005

    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
    Assay Products:
     

     
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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 ASAH2B gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ASAH26
    Uncharacterized protein
    11(a)
    1 → many
    6(10895428-10911658)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    13(a)
    1 → many
    GL343902.1(85557-123952)
    zebrafish
    (Danio rerio)
    Actinopterygii asah26
    N-acylsphingosine amidohydrolase 2
    10(a)
    1 → many
    12(6801178-6826667)
    fruit fly
    (Drosophila melanogaster)
    Insecta CDase6
    Ceramidase
    7(a)
    1 → many
    3R(26285243-26291458)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G589806
    AT1G073806
    (see all 3)
    Neutral/alkaline non-lysosomal ceramidase
    (see all 3)
    7(a)
    7(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    5(23811449-23814683)
    1(2264829-2268306)
    rice
    (Oryza sativa)
    Liliopsida --
    neutral ceramidase precursor, putative, expressed
    7(a)
    1 → many
    1(24912436-24922970)
            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)
    About This Section
    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

    ASAH2B for paralogs           About GeneDecksing



    (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

    10/251 NCBI SNPs in ASAH2B are shown (see all 251    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    rs801217741,2
    C--46474523(+) CTCCCC/TGCTCC 1 -- int11Minor allele frequency- T:0.50NA 2
    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
    rs712302131,2
    --46474804(-) ATGCTT/ACCAGA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs24757221,2
    --46474830(+) CTTGCA/GTGGGA 1 -- int10--------
    rs791357851,2
    C,F--46475834(+) ATGGCC/ATAAGC 1 -- int11Minor allele frequency- A:0.50NA 4
    rs618571291,2
    --46476320(+) TCTAAC/GAAAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ASAH2B (52499078 - 52576255 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASAH2B: --

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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.)
    About This Section

    ASAH2B for disorders           About GeneDecksing

    OMIM gene information: 610987    OMIM disorders: --

    3 diseases for ASAH2B:    About MalaCards
    alzheimer's disease    tuberculosis    mycobacterium tuberculosis


    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)
    About This Section

    PubMed articles for ASAH2B gene integrated from 9 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. (2007)
    2. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

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

    (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 ASAH2B 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
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    von Willebrand factor
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