• Gene id: 8228

Gene Summary

• Gene Symbol: PNPLA4   Gene   UCSC   Ensembl
• Aliases: DXS1283E, GS2, iPLA2eta
• Gene name: patatin like phospholipase domain containing 4
• Alternate names: patatin-like phospholipase domain-containing protein 4, IPLA2 eta, calcium independent phospholipases A2 eta,
• Gene location: Xp22.31 (7928586: 7898246)     Exons: 8     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple trans
• OMIM: 300102

Protein Summary

• Protein general information: P41247  
  • Name: Patatin like phospholipase domain containing protein 4 (EC 3.1.1.3) (Protein GS2)
  • Length: 253  
  • Mass: 27980
  • Tissue specificity: Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen. {ECO
• Sequence:

  MKHINLSFAACGFLGIYHLGAASALCRHGKKLVKDVKAFAGASAGSLVASVLLTAPEKIEECNQFTYKFAEEIRR
  QSFGAVTPGYDFMARLRSGMESILPPSAHELAQNRLHVSITNAKTRENHLVSTFSSREDLIKVLLASSFVPIYAG
  LKLVEYKGQKWVDGGLTNALPILPVGRTVTISPFSGRLDISPQDKGQLDLYVNIAKQDIMLSLANLVRLNQALFP
  PSKRKMESLYQCGFDDTVKFLLKENWFE

• Structural information:
  • Protein Domains: (6..17-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR033562  IPR033902  IPR002641  
  • Prosite: PS51635
  • CDD: cd07222
  • STRING: ENSP00000370430
• Other Databases: GeneCards:  PNPLA4  Malacards:  PNPLA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004806	triglyceride lipase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0055088	lipid homeostasis	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0019433	triglyceride catabolic process	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0050253	retinyl-palmitate esterase activity	IEA	molecular function
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0004806	triglyceride lipase activity	EXP	molecular function
GO:0004806	triglyceride lipase activity	EXP	molecular function
GO:0050253	retinyl-palmitate esterase activity	EXP	molecular function
GO:0050253	retinyl-palmitate esterase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019433	triglyceride catabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0008150	biological_process	ND	biological process

KEGG pathways

Pathway id	Pathway name
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881