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

Gene ID: 230379, updated on 2-Nov-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 N-acylsphingosine amidohydrolase activity. Involved in sphingosine biosynthetic process. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi membrane. Is expressed in several structures, including heart; hemolymphoid system; liver; lung; and stomach. Orthologous to human ACER2 (alkaline ceramidase 2). [provided by Alliance of Genome Resources, Nov 2024]
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acylsphingosine amidohydrolase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables N-acylsphingosine amidohydrolase activity ISO
Inferred from Sequence Orthology
more info
  
enables N-acylsphingosine amidohydrolase activity ISS
Inferred from Sequence or Structural Similarity
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in DNA damage response, signal transduction by p53 class mediator ISO
Inferred from Sequence Orthology
more info
  
involved_in DNA damage response, signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
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 catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cell adhesion mediated by integrin 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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of autophagy ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of autophagy ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein glycosylation ISO
Inferred from Sequence Orthology
more info
  
involved_in response to retinoic acid IEA
Inferred from Electronic Annotation
more info
  
involved_in response to retinoic acid ISO
Inferred from Sequence Orthology
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
  
involved_in sphingosine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
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 Golgi membrane ISS
Inferred from Sequence or Structural Similarity
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

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