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    ACER2 alkaline ceramidase 2 [ Homo sapiens (human) ]

    Gene ID: 340485, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ACER2provided by HGNC
    Official Full Name
    alkaline ceramidase 2provided by HGNC
    Primary source
    HGNC:HGNC:23675
    See related
    Ensembl:ENSG00000177076 MIM:613492; AllianceGenome:HGNC:23675
    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
    ASAH3L; ALKCDase2
    Summary
    The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]
    Expression
    Biased expression in stomach (RPKM 29.1), urinary bladder (RPKM 17.8) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACER2 in Genome Data Viewer
    Location:
    9p22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (19409009..19452505)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (19421828..19465242)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19409007..19452503)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:19379549-19380748 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:19407977-19408834 and GRCh37_chr9:19408835-19409690 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:19446057-19447256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:19457239-19457834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:19460877-19461378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19795 Neighboring gene uncharacterized LOC105375988 Neighboring gene ribosomal protein S6 Neighboring gene microtubule associated protein 1 light chain 3 beta pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:19492981-19493504 Neighboring gene solute carrier family 24 member 2

    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 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. miR-196a-5p Correlates with Chronic Atrophic Gastritis Progression to Gastric Cancer and Induces Malignant Biological Behaviors of Gastric Cancer Cells by Targeting ACER2. Zheng J, et al. Mol Biotechnol, 2023 Aug. PMID 36513872
    2. Targeting YTHDF2 inhibits tumorigenesis of diffuse large B-cell lymphoma through ACER2-mediated ceramide catabolism. Chen X, et al. J Adv Res, 2024 Sep. PMID 37865189, Free PMC Article
    3. Alkaline ceramidase 2 and its bioactive product sphingosine are novel regulators of the DNA damage response. Xu R, et al. Oncotarget, 2016 Apr 5. PMID 26943039, Free PMC Article
    4. Regulation of alkaline ceramidase activity by the c-Src-mediated pathway. Sasaki H, et al. Arch Biochem Biophys, 2014 May 15. PMID 24708996
    5. Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). Sun W, et al. J Biol Chem, 2010 Mar 19. PMID 20089856, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting YTHDF2 inhibits tumorigenesis of diffuse large B-cell lymphoma through ACER2-mediated ceramide catabolism.
      Title: Targeting YTHDF2 inhibits tumorigenesis of diffuse large B-cell lymphoma through ACER2-mediated ceramide catabolism.
    2. miR-196a-5p Correlates with Chronic Atrophic Gastritis Progression to Gastric Cancer and Induces Malignant Biological Behaviors of Gastric Cancer Cells by Targeting ACER2.
      Title: miR-196a-5p Correlates with Chronic Atrophic Gastritis Progression to Gastric Cancer and Induces Malignant Biological Behaviors of Gastric Cancer Cells by Targeting ACER2.
    3. TIMELESS regulates sphingolipid metabolism and tumor cell growth through Sp1/ACER2/S1P axis in ER-positive breast cancer.
      Title: TIMELESS regulates sphingolipid metabolism and tumor cell growth through Sp1/ACER2/S1P axis in ER-positive breast cancer.
    4. These results suggest that p53 mediates DDR and exerts its tumor suppressive role in part by regulating the expression of ACER2, which in turn regulates the bioactive sphingolipid lipids.
      Title: Tumor suppressor p53 links ceramide metabolism to DNA damage response through alkaline ceramidase 2.
    5. Consistently, forced expression of p53 significantly stimulated ACER2 transcription. Notably, p53-mediated autophagy and apoptosis were markedly enhanced by ACER2. Depletion of the essential autophagy gene ATG5 revealed that ACER2-induced autophagy facilitates its effect on apoptosis.
      Title: Alkaline ceramidase 2 is a novel direct target of p53 and induces autophagy and apoptosis through ROS generation.
    6. Results suggest that the ACER2/sphingosine pathway mediates programmed cell death in response to DNA damage through ROS production.
      Title: Alkaline ceramidase 2 and its bioactive product sphingosine are novel regulators of the DNA damage response.
    7. c-Src-mediated signal positively regulates ACER activity in a Ca2+-independent manner.
      Title: Regulation of alkaline ceramidase activity by the c-Src-mediated pathway.
    8. Results suggest that up-regulation of the ACER2/DHS pathway mediates the cytotoxicity of 4-HPR in tumor cells and that up-regulating or activating ACER2 may improve the anti-cancer activity of 4-HRR and other DHC-inducing agents.
      Title: Alkaline ceramidase 2 (ACER2) and its product dihydrosphingosine mediate the cytotoxicity of N-(4-hydroxyphenyl)retinamide in tumor cells.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. ACER2 has broad substrate specificity and requires Ca(2+) for its activity; ACER2 has the cytosolic C terminus and luminal N terminus, which are essential for its activity, correct cellular localization, and regulation for protein glycosylation
      Title: Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2).
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    • FLJ41587

    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 N-acylsphingosine amidohydrolase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in ceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sphingolipid catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in sphingosine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sphingosine biosynthetic 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 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alkaline ceramidase 2
    Names
    alkCDase 2
    alkaline CDase 2
    ceramide hydrolase
    haCER2
    NP_001010887.2
    XP_011516160.1
    XP_011516161.1
    XP_016870183.1
    XP_047279291.1
    XP_047279292.1
    XP_054218878.1
    XP_054218879.1
    XP_054218880.1
    XP_054218881.1
    XP_054218882.1

    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_001010887.3 → NP_001010887.2  alkaline ceramidase 2

      See identical proteins and their annotated locations for NP_001010887.2

      Status: VALIDATED

      Source sequence(s)
      AK123581, AL158206, AY312516, BC092487
      Consensus CDS
      CCDS34992.1
      UniProtKB/Swiss-Prot
      A2A3R8, Q569G5, Q5QJU3, Q5VZR7, Q71RD2
      UniProtKB/TrEMBL
      B3KVV5
      Related
      ENSP00000342609.2, ENST00000340967.3
      Conserved Domains (1) summary
      pfam05875
      Location:13 → 261
      Ceramidase

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      19409009..19452505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423336.1 → XP_047279292.1  alkaline ceramidase 2 isoform X2

    2. XM_011517858.2 → XP_011516160.1  alkaline ceramidase 2 isoform X3

      Conserved Domains (1) summary
      pfam05875
      Location:13 → 178
      Ceramidase; Ceramidase

    3. XM_047423335.1 → XP_047279291.1  alkaline ceramidase 2 isoform X1

    4. XM_017014694.2 → XP_016870183.1  alkaline ceramidase 2 isoform X1

      UniProtKB/TrEMBL
      B3KVV5
      Conserved Domains (1) summary
      pfam05875
      Location:1 → 212
      Ceramidase

    5. XM_011517859.3 → XP_011516161.1  alkaline ceramidase 2 isoform X4

      Conserved Domains (1) summary
      pfam05875
      Location:1 → 171
      Ceramidase; Ceramidase

    RNA

    1. XR_002956780.2 RNA Sequence

    2. XR_002956781.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      19421828..19465242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362905.1 → XP_054218880.1  alkaline ceramidase 2 isoform X2

    2. XM_054362906.1 → XP_054218881.1  alkaline ceramidase 2 isoform X3

    3. XM_054362903.1 → XP_054218878.1  alkaline ceramidase 2 isoform X1

    4. XM_054362904.1 → XP_054218879.1  alkaline ceramidase 2 isoform X1

    5. XM_054362907.1 → XP_054218882.1  alkaline ceramidase 2 isoform X4

    RNA

    1. XR_008488012.1 RNA Sequence

    2. XR_008488013.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5QJU3.2 GenPept UniProtKB/Swiss-Prot:Q5QJU3

    Gene LinkOut

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

    Chemical Information
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