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    ASAH2 N-acylsphingosine amidohydrolase 2 [ Homo sapiens (human) ]

    Gene ID: 56624, updated on 2-Nov-2024

    Summary

    Official Symbol
    ASAH2provided by HGNC
    Official Full Name
    N-acylsphingosine amidohydrolase 2provided by HGNC
    Primary source
    HGNC:HGNC:18860
    See related
    Ensembl:ENSG00000188611 MIM:611202; AllianceGenome:HGNC:18860
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HNAC1; BCDase; LCDase; NCDase; N-CDase
    Summary
    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]
    Expression
    Biased expression in duodenum (RPKM 35.9), small intestine (RPKM 31.0) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See ASAH2 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50184861..50251516, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (51033047..51099700, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51944621..52011276, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene WASH complex subunit 2A Neighboring gene solute carrier family 9 member 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2366 Neighboring gene Sharpr-MPRA regulatory region 2427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3357 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:52072847-52073346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3358 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:52115322-52115522 Neighboring gene sphingomyelin synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3359 Neighboring gene NANOG hESC enhancer GRCh37_chr10:52150757-52151283 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:52166919-52167712 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:52169740-52170240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3362 Neighboring gene Sharpr-MPRA regulatory region 10759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3363 Neighboring gene Sharpr-MPRA regulatory region 12597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3364 Neighboring gene uncharacterized LOC124902424

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129777

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acylsphingosine amidohydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables N-acylsphingosine amidohydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables N-acylsphingosine amidohydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cytokine stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ceramide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ceramide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid digestion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in long-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sphingosine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sphingosine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sphingosine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sphingosine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    neutral ceramidase
    Names
    N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
    acylsphingosine deacylase 2
    mitochondrial ceramidase
    neutral/alkaline ceramidase
    non-lysosomal ceramidase
    NP_001137446.1
    NP_063946.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001143974.3NP_001137446.1  neutral ceramidase isoform b

      Status: VALIDATED

      Source sequence(s)
      AL450382
      UniProtKB/TrEMBL
      A0A0C4DFQ8
      Related
      ENSP00000329886.6, ENST00000329428.10
      Conserved Domains (3) summary
      PTZ00487
      Location:100743
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102573
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:575742
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
    2. NM_019893.4NP_063946.2  neutral ceramidase isoform a

      See identical proteins and their annotated locations for NP_063946.2

      Status: VALIDATED

      Source sequence(s)
      AL450382
      Consensus CDS
      CCDS7239.2
      UniProtKB/Swiss-Prot
      Q3KNU1, Q5SNT7, Q5SZP6, Q5SZP7, Q5T1D5, Q71ME6, Q9NR71
      UniProtKB/TrEMBL
      A0A0C4DFQ8
      Related
      ENSP00000506746.1, ENST00000682911.1
      Conserved Domains (3) summary
      PTZ00487
      Location:100778
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102608
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:610777
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      50184861..50251516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      51033047..51099700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)