• Gene id: 56624

Gene Summary

• Gene Symbol: ASAH2   Gene   UCSC   Ensembl
• Aliases: BCDase, HNAC1, LCDase, N-CDase, NCDase
• Gene name: N-acylsphingosine amidohydrolase 2
• Alternate names: neutral ceramidase, N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2, acylsphingosine deacylase 2, mitochondrial ceramidase, neutral/alkaline ceramidase, non-lysosomal ceramidase,
• Gene location: 10q11.23 (50251563: 50184860)     Exons: 23     NC_000010.11
• Gene summary(Entrez): 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 phosp
• OMIM: 610500

Protein Summary

• Protein general information: Q9NR71  
  • Name: Neutral ceramidase (N CDase) (NCDase) (EC 3.5.1. ) (EC 3.5.1.23) (Acylsphingosine deacylase 2) (BCDase) (LCDase) (hCD) (N acylsphingosine amidohydrolase 2) (Non lysosomal ceramidase) [Cleaved into: Neutral ceramidase soluble form]
  • Length: 780  
  • Mass: 85516
  • Tissue specificity: Primarily expressed in intestine (PubMed
• Sequence:

  MAKRTFSNLETFLIFLLVMMSAITVALLSLLFITSGTIENHKDLGGHFFSTTQSPPATQGSTAAQRSTATQHSTA
  TQSSTATQTSPVPLTPESPLFQNFSGYHIGVGRADCTGQVADINLMGYGKSGQNAQGILTRLYSRAFIMAEPDGS
  NRTVFVSIDIGMVSQRLRLEVLNRLQSKYGSLYRRDNVILSGTHTHSGPAGYFQYTVFVIASEGFSNQTFQHMVT
  GILKSIDIAHTNMKPGKIFINKGNVDGVQINRSPYSYLQNPQSERARYSSNTDKEMIVLKMVDLNGDDLGLISWF
  AIHPVSMNNSNHLVNSDNVGYASYLLEQEKNKGYLPGQGPFVAAFASSNLGDVSPNILGPRCINTGESCDNANST
  CPIGGPSMCIAKGPGQDMFDSTQIIGRAMYQRAKELYASASQEVTGPLASAHQWVDMTDVTVWLNSTHASKTCKP
  ALGYSFAAGTIDGVGGLNFTQGKTEGDPFWDTIRDQILGKPSEEIKECHKPKPILLHTGELSKPHPWHPDIVDVQ
  IITLGSLAITAIPGEFTTMSGRRLREAVQAEFASHGMQNMTVVISGLCNVYTHYITTYEEYQAQRYEAASTIYGP
  HTLSAYIQLFRNLAKAIATDTVANLSRGPEPPFFKQLIVPLIPSIVDRAPKGRTFGDVLQPAKPEYRVGEVAEVI
  FVGANPKNSVQNQTHQTFLTVEKYEATSTSWQIVCNDASWETRFYWHKGLLGLSNATVEWHIPDTAQPGIYRIRY
  FGHNRKQDILKPAVILSFEGTSPAFEVVTI

• Structural information:
  • Interpro: IPR006823  IPR038445  IPR031331  IPR031329  
  • PDB: 4WGK
  • PDBsum: 4WGK
  • STRING: ENSP00000378897
• Other Databases: GeneCards:  ASAH2  Malacards:  ASAH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046512	sphingosine biosynthetic process	IBA	biological process
GO:0042759	long-chain fatty acid biosynthetic process	IBA	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IBA	molecular function
GO:0005576	extracellular region	IBA	cellular component
GO:0046514	ceramide catabolic process	IBA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0017040	N-acylsphingosine amidohydrolase activity	IDA	molecular function
GO:0006672	ceramide metabolic process	IDA	biological process
GO:0006670	sphingosine metabolic process	IDA	biological process
GO:0071345	cellular response to cytokine stimulus	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0006670	sphingosine metabolic process	IDA	biological process
GO:0046514	ceramide catabolic process	IDA	biological process
GO:0046514	ceramide catabolic process	IDA	biological process
GO:0006670	sphingosine metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0045121	membrane raft	ISS	colocalizes with
GO:0005901	caveola	ISS	cellular component
GO:0044241	lipid digestion	ISS	biological process
GO:0046512	sphingosine biosynthetic process	IMP	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IMP	molecular function
GO:0017040	N-acylsphingosine amidohydrolase activity	IMP	molecular function
GO:0046513	ceramide biosynthetic process	IMP	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IMP	molecular function
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0046514	ceramide catabolic process	IMP	biological process
GO:0007346	regulation of mitotic cell cycle	IMP	biological process
GO:0046514	ceramide catabolic process	IMP	biological process
GO:0006670	sphingosine metabolic process	IMP	biological process
GO:0046514	ceramide catabolic process	IMP	biological process
GO:2001234	negative regulation of apoptotic signaling pathway	IMP	biological process
GO:0006670	sphingosine metabolic process	IMP	biological process
GO:0046514	ceramide catabolic process	IMP	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0046514	ceramide catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0102121	ceramidase activity	IEA	molecular function
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0010033	response to organic substance	IEA	biological process
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0046512	sphingosine biosynthetic process	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0017040	N-acylsphingosine amidohydrolase activity	IEA	molecular function
GO:0044241	lipid digestion	IEA	biological process
GO:0046512	sphingosine biosynthetic process	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0046514	ceramide catabolic process	IEA	biological process
GO:0070774	phytoceramidase activity	IEA	molecular function
GO:0071633	dihydroceramidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0046514	ceramide catabolic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray