• Gene id: 55627

Gene Summary

• Gene Symbol: SMPD4   Gene   UCSC   Ensembl
• Aliases: NEDMABA, NEDMEBA, NET13, NSMASE-3, NSMASE3, SKNY
• Gene name: sphingomyelin phosphodiesterase 4
• Alternate names: sphingomyelin phosphodiesterase 4, neutral sphingomyelinase 3, neutral sphingomyelinase III, sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),
• Gene location: 2q21.1 (130181756: 130151391)     Exons: 21     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulate
• OMIM: 605828

Protein Summary

• Protein general information: Q9NXE4  
  • Name: Sphingomyelin phosphodiesterase 4 (EC 3.1.4.12) (Neutral sphingomyelinase 3) (nSMase 3) (nSMase3) (Neutral sphingomyelinase III)
  • Length: 866  
  • Mass: 97810
  • Tissue specificity: Widely expressed, with highest levels in heart and skeletal muscle. {ECO
• Sequence:

  MTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVI
  EDFPAKELHTIFPWLVESIFGSLDGVLVGWNLRCLQGRVNPVEYSIVMEFLDPGGPMMKLVYKLQAEDYKFDFPV
  SYLPGPVKASIQECILPDSPLYHNKVQFTPTGGLGLNLALNPFEYYIFFFALSLITQKPLPVSLHVRTSDCAYFI
  LVDRYLSWFLPTEGSVPPPLSSSPGGTSPSPPPRTPAIPFASYGLHHTSLLKRHISHQTSVNADPASHEIWRSET
  LLQVFVEMWLHHYSLEMYQKMQSPHAKLEVLHYRLSVSSALYSPAQPSLQALHAYQESFTPTEEHVLVVRLLLKH
  LHAFANSLKPEQASPSAHSHATSPLEEFKRAAVPRFVQQKLYLFLQHCFGHWPLDASFRAVLEMWLSYLQPWRYA
  PDKQAPGSDSQPRCVSEKWAPFVQENLLMYTKLFVGFLNRALRTDLVSPKHALMVFRVAKVFAQPNLAEMIQKGE
  QLFLEPELVIPHRQHRLFTAPTFTGSFLSPWPPAVTDASFKVKSHVYSLEGQDCKYTPMFGPEARTLVLRLAQLI
  TQAKHTAKSISDQCAESPAGHSFLSWLGFSSMDTNGSYTANDLDEMGQDSVRKTDEYLEKALEYLRQIFRLSEAQ
  LRQFTLALGTTQDENGKKQLPDCIVGEDGLILTPLGRYQIINGLRRFEIEYQGDPELQPIRSYEIASLVRTLFRL
  SSAINHRFAGQMAALCSRDDFLGSFCRYHLTEPGLASRHLLSPVGRRQVAGHTRGPRLSLRFLGSYRTLVSLLLA
  FFVASLFCVGPLPCTLLLTLGYVLYASAMTLLTERGKLHQP

• Structural information:
  • Interpro: IPR024129  
  • STRING: ENSP00000386531
• Other Databases: GeneCards:  SMPD4  Malacards:  SMPD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006685	sphingomyelin catabolic process	IDA	biological process
GO:0050290	sphingomyelin phosphodiesterase D activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0050290	sphingomyelin phosphodiesterase D activity	IBA	molecular function
GO:0006685	sphingomyelin catabolic process	IBA	biological process
GO:0046475	glycerophospholipid catabolic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005640	nuclear outer membrane	IDA	cellular component
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0050290	sphingomyelin phosphodiesterase D activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0005635	nuclear envelope	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0071356	cellular response to tumor necrosis factor	IDA	biological process
GO:0046475	glycerophospholipid catabolic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005635	nuclear envelope	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq