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ACER2 alkaline ceramidase 2 [ Homo sapiens (human) ]

Gene ID: 340485, updated on 22-Sep-2022

Summary

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
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Genomic context

See ACER2 in Genome Data Viewer
Location:
9p22.1
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (19409009..19452505)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (19421828..19465242)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19409007..19452503)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S6 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 13319 Neighboring gene microtubule associated protein 1 light chain 3 beta pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41587

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables N-acylsphingosine amidohydrolase activity TAS
Traceable Author Statement
more info
 
enables ceramidase activity IEA
Inferred from Electronic Annotation
more info
 
enables dihydroceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dihydroceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables dihydroceramidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 DNA damage stimulus IDA
Inferred from Direct Assay
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
PubMed 
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 death IMP
Inferred from Mutant Phenotype
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 biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in sphingosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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

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_001010887.3NP_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
    Q5QJU3, Q71RD2
    UniProtKB/TrEMBL
    B3KVV5
    Related
    ENSP00000342609.2, ENST00000340967.3
    Conserved Domains (1) summary
    pfam05875
    Location:13261
    Ceramidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047423336.1XP_047279292.1  alkaline ceramidase 2 isoform X2

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

    Conserved Domains (1) summary
    pfam05875
    Location:13178
    Ceramidase; Ceramidase
  3. XM_047423335.1XP_047279291.1  alkaline ceramidase 2 isoform X1

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

    UniProtKB/Swiss-Prot
    Q5QJU3
    Conserved Domains (1) summary
    pfam05875
    Location:1212
    Ceramidase
  5. XM_011517859.3XP_011516161.1  alkaline ceramidase 2 isoform X4

    Conserved Domains (1) summary
    pfam05875
    Location:1171
    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)