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    Acer2 alkaline ceramidase 2 [ Mus musculus (house mouse) ]

    Gene ID: 230379, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Acer2provided by MGI
    Official Full Name
    alkaline ceramidase 2provided by MGI
    Primary source
    MGI:MGI:1920932
    See related
    Ensembl:ENSMUSG00000038007 AllianceGenome:MGI:1920932
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Asah3l; CRG-L1; maCER2; 2410116I05Rik
    Summary
    Enables dihydroceramidase activity. Involved in sphingosine biosynthetic process. Predicted to be located in Golgi apparatus. Predicted to be integral component of Golgi membrane. Is expressed in several structures, including blood; heart; liver; lung; and stomach. Orthologous to human ACER2 (alkaline ceramidase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bladder adult (RPKM 106.5), lung adult (RPKM 59.3) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Acer2 in Genome Data Viewer
    Location:
    4 C4; 4 40.69 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (86792585..86853059)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (86874348..86932524)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene DENN domain containing 4C Neighboring gene STARR-seq mESC enhancer starr_10700 Neighboring gene STARR-seq mESC enhancer starr_10701 Neighboring gene STARR-positive B cell enhancer ABC_E11244 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene STARR-seq mESC enhancer starr_10704 Neighboring gene STARR-seq mESC enhancer starr_10705 Neighboring gene ribosomal protein S6 Neighboring gene STARR-seq mESC enhancer starr_10707 Neighboring gene solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 Neighboring gene STARR-seq mESC enhancer starr_10709 Neighboring gene cadherin-2 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr4:87013999-87014300 Neighboring gene STARR-seq mESC enhancer starr_10712 Neighboring gene STARR-positive B cell enhancer mm9_chr4:87133481-87133782 Neighboring gene predicted gene, 53246

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice. de Groot T, et al. J Am Soc Nephrol, 2019 Dec. PMID 31558682, Free PMC Article
    2. Expression profiling and identification of novel genes in hepatocellular carcinomas. Graveel CR, et al. Oncogene, 2001 May 10. PMID 11420682
    3. Exosomal miR-125b-5p derived from adipose-derived mesenchymal stem cells enhance diabetic hindlimb ischemia repair via targeting alkaline ceramidase 2. Guo J, et al. J Nanobiotechnology, 2023 Jun 12. PMID 37308908, Free PMC Article
    4. Alkaline ceramidase 2 is essential for the homeostasis of plasma sphingoid bases and their phosphates. Li F, et al. FASEB J, 2018 Jun. PMID 29401619, Free PMC Article
    5. Alkaline Ceramidase 1 Protects Mice from Premature Hair Loss by Maintaining the Homeostasis of Hair Follicle Stem Cells. Lin CL, et al. Stem Cell Reports, 2017 Nov 14. PMID 29056331, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exosomal miR-125b-5p derived from adipose-derived mesenchymal stem cells enhance diabetic hindlimb ischemia repair via targeting alkaline ceramidase 2.
      Title: Exosomal miR-125b-5p derived from adipose-derived mesenchymal stem cells enhance diabetic hindlimb ischemia repair via targeting alkaline ceramidase 2.
    2. Maternal and fetal alkaline ceramidase 2 is required for placental vascular integrity in mice.
      Title: Maternal and fetal alkaline ceramidase 2 is required for placental vascular integrity in mice.
    3. Using genome-wide association analyses, we identified eight gene-containing loci, including a locus containing Acer2, which encodes a ceramidase and is specifically expressed in the collecting duct. Knockout of Acer2 led to increased susceptibility for lithium-induced diabetes insipidus development.
      Title: Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice.
    4. results suggest that ACER2 plays a key role in the maintenance of high plasma levels of sphingoid base-1-phosphates-S1P and dhS1P-by controlling the generation of sphingoid bases-SPH and dhSPH-in hematopoietic cells.
      Title: Alkaline ceramidase 2 is essential for the homeostasis of plasma sphingoid bases and their phosphates.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • RP24-468M3.3

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N-acylsphingosine amidohydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ceramidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dihydroceramidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dihydroceramidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables dihydroceramidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ceramide catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ceramide metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell adhesion mediated by integrin ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to retinoic acid ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    alkaline ceramidase 2
    Names
    alkCDase 2
    alkaline CDase 2
    cancer related gene-liver 1 (CRG-L1)
    cancer-related gene liver 1 protein
    ceramide hydrolase
    NP_001277470.1
    NP_001277472.1
    NP_647467.1
    XP_006537940.1
    XP_006537941.1
    XP_011248314.1
    XP_036019887.1
    XP_036019888.1

    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_001290541.1 → NP_001277470.1  alkaline ceramidase 2 isoform 2

      See identical proteins and their annotated locations for NP_001277470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      BB028627, BC059819
      Consensus CDS
      CCDS71417.1
      UniProtKB/Swiss-Prot
      Q8VD53
      Related
      ENSMUSP00000081473.5, ENSMUST00000084433.5
      Conserved Domains (1) summary
      pfam05875
      Location:13 → 215
      Ceramidase; Ceramidase

    2. NM_001290543.1 → NP_001277472.1  alkaline ceramidase 2 isoform 3

      See identical proteins and their annotated locations for NP_001277472.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK085306, BC059819
      UniProtKB/Swiss-Prot
      Q8VD53
      Related
      ENSMUST00000128712.2
      Conserved Domains (1) summary
      pfam05875
      Location:13 → 214
      Ceramidase; Ceramidase

    3. NM_139306.3 → NP_647467.1  alkaline ceramidase 2 isoform 1

      See identical proteins and their annotated locations for NP_647467.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK085306, BB028627, BC059819
      Consensus CDS
      CCDS18311.1
      UniProtKB/Swiss-Prot
      Q6PB92, Q8BUG3, Q8VD53
      Related
      ENSMUSP00000040048.8, ENSMUST00000045224.14
      Conserved Domains (1) summary
      pfam05875
      Location:13 → 261
      Ceramidase; Ceramidase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      86792585..86853059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006537878.4 → XP_006537941.1  alkaline ceramidase 2 isoform X2

      Conserved Domains (1) summary
      pfam05875
      Location:13 → 153
      Ceramidase

    2. XM_036163995.1 → XP_036019888.1  alkaline ceramidase 2 isoform X5

      Conserved Domains (1) summary
      pfam05875
      Location:13 → 168
      Ceramidase

    3. XM_006537877.4 → XP_006537940.1  alkaline ceramidase 2 isoform X1

      Conserved Domains (1) summary
      pfam05875
      Location:13 → 199
      Ceramidase

    4. XM_036163994.1 → XP_036019887.1  alkaline ceramidase 2 isoform X3

      Conserved Domains (1) summary
      pfam05875
      Location:13 → 215
      Ceramidase

    5. XM_011250012.4 → XP_011248314.1  alkaline ceramidase 2 isoform X4

      Conserved Domains (1) summary
      pfam05875
      Location:13 → 198
      Ceramidase

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_028605.2: Suppressed sequence

      Description
      NM_028605.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VD53.1 GenPept UniProtKB/Swiss-Prot:Q8VD53

    Gene LinkOut

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

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