• Gene id: 340485

Gene Summary

• Gene Symbol: ACER2   Gene   UCSC   Ensembl
• Aliases: ALKCDase2, ASAH3L
• Gene name: alkaline ceramidase 2
• Alternate names: alkaline ceramidase 2, alkCDase 2, alkaline CDase 2, ceramide hydrolase, haCER2,
• Gene location: 9p22.1 (19408926: 19455172)     Exons: 12     NC_000009.12
• Gene summary(Entrez): 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 [

Protein Summary

• Protein general information: Q5QJU3  
  • Name: Alkaline ceramidase 2 (AlkCDase 2) (Alkaline CDase 2) (haCER2) (EC 3.5.1. ) (EC 3.5.1.23) (Acylsphingosine deacylase 3 like) (N acylsphingosine amidohydrolase 3 like)
  • Length: 275  
  • Mass: 31309
  • Tissue specificity: Highly expressed in placenta. {ECO
• Sequence:

  MGAPHWWDQLQAGSSEVDWCEDNYTIVPAIAEFYNTISNVLFFILPPICMCLFRQYATCFNSGIYLIWTLLVVVG
  IGSVYFHATLSFLGQMLDELAVLWVLMCALAMWFPRRYLPKIFRNDRGRFKVVVSVLSAVTTCLAFVKPAINNIS
  LMTLGVPCTALLIAELKRCDNMRVFKLGLFSGLWWTLALFCWISDRAFCELLSSFNFPYLHCMWHILICLAAYLG
  CVCFAYFDAASEIPEQGPVIKFWPNEKWAFIGVPYVSLLCANKKSSVKIT

• Structural information:
  • Interpro: IPR008901  
  • STRING: ENSP00000342609
• Other Databases: GeneCards:  ACER2  Malacards:  ACER2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0046512	sphingosine biosynthetic process	IMP	biological process
GO:0010506	regulation of autophagy	IMP	biological process
GO:0042981	regulation of apoptotic process	IMP	biological process
GO:0042981	regulation of apoptotic process	IMP	biological process
GO:0071633	dihydroceramidase activity	IMP	molecular function
GO:0046514	ceramide catabolic process	IMP	biological process
GO:0046514	ceramide catabolic process	IMP	biological process
GO:0042981	regulation of apoptotic process	IMP	biological process
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA	molecular function
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0102121	ceramidase activity	IEA	molecular function
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0017040	N-acylsphingosine amidohydrolase activity	TAS	molecular function
GO:0046512	sphingosine biosynthetic process	IEA	biological process
GO:0071633	dihydroceramidase activity	IEA	molecular function
GO:0071633	dihydroceramidase activity	IDA	molecular function
GO:0046512	sphingosine biosynthetic process	IDA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0035690	cellular response to drug	IEP	biological process
GO:0010942	positive regulation of cell death	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0032526	response to retinoic acid	IDA	biological process
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0046512	sphingosine biosynthetic process	IDA	biological process
GO:0046512	sphingosine biosynthetic process	IDA	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IDA	biological process
GO:0090285	negative regulation of protein glycosylation in Golgi	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq