U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous