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

    Gene ID: 56624, updated on 5-Mar-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    10q11.23
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50184861..50251516, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (51033047..51099700, complement)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. Measurement of neutral ceramidase activity in vitro and in vivo. Simoes M, et al. Anal Biochem, 2022 Apr 15. PMID 35134389
    2. Neutral ceramidase: Advances in mechanisms, cell regulation, and roles in cancer. Coant N, et al. Adv Biol Regul, 2019 Jan. PMID 30389354, Free PMC Article
    3. Transcriptional regulation of the human neutral ceramidase gene. O'Neill SM, et al. Arch Biochem Biophys, 2011 Jul. PMID 21531200, Free PMC Article
    4. Mechanisms of sphingosine and sphingosine 1-phosphate generation in human platelets. Tani M, et al. J Lipid Res, 2005 Nov. PMID 16061940
    5. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. Hwang YH, et al. Biochem Biophys Res Commun, 2005 May 27. PMID 15845354

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Measurement of neutral ceramidase activity in vitro and in vivo.
      Title: Measurement of neutral ceramidase activity in vitro and in vivo.
    2. Asah2 Represses the p53-Hmox1 Axis to Protect Myeloid-Derived Suppressor Cells from Ferroptosis.
      Title: Asah2 Represses the p53-Hmox1 Axis to Protect Myeloid-Derived Suppressor Cells from Ferroptosis.
    3. Neutral ceramidase: Advances in mechanisms, cell regulation, and roles in cancer.
      Title: Neutral ceramidase: Advances in mechanisms, cell regulation, and roles in cancer.
    4. The structural basis for ceramide recognition and hydrolysis by human neutral ceramidase has been uncovered.
      Title: Structural Basis for Ceramide Recognition and Hydrolysis by Human Neutral Ceramidase.
    5. These results demonstrate for the first time that adiponectin inhibits TNFalpha-induced inflammatory response via Cav1-mediated ceramidase recruitment and activation in an AdipoR1-dependent fashion.
      Title: Adiponectin inhibits tumor necrosis factor-α-induced vascular inflammatory response via caveolin-mediated ceramidase recruitment and activation.
    6. cloned a 3000 bp region upstream of the translational start site of the nCDase gene
      Title: Transcriptional regulation of the human neutral ceramidase gene.
    7. c-Jun/AP-1 signaling may, in part, regulate serum-induced nCDase gene transcription
      Title: AP-1 binding transcriptionally regulates human neutral ceramidase.
    8. Both acidic ceramidase (aCDase) and neutral ceramidase (nCDase) activities declined after low- and high-UVB, but returned to normal only in low-UVB cells
      Title: Hydrolytic pathway protects against ceramide-induced apoptosis in keratinocytes exposed to UVB.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. serine palmitoyltransferase and ceramidase are two major ceramide metabolizing enzymes that may have roles in psoriatic epidermis
      Title: A study on altered expression of serine palmitoyltransferase and ceramidase in psoriatic skin lesion.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 ceramidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

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    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)

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    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_001143974.3 → NP_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:100 → 743
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102 → 573
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:575 → 742
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    2. NM_019893.4 → NP_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:100 → 778
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102 → 608
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:610 → 777
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NR71.2 GenPept UniProtKB/Swiss-Prot:Q9NR71

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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