• Gene id: 123

Gene Summary

• Gene Symbol: PLIN2   Gene   UCSC   Ensembl
• Aliases: ADFP, ADRP
• Gene name: perilipin 2
• Alternate names: perilipin-2, adipophilin, adipose differentiation-related protein,
• Gene location: 9p22.1 (19127605: 19108390)     Exons: 9     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of
• OMIM: 103195

SNPs

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

Protein Summary

• Protein general information: Q99541  
  • Name: Perilipin 2 (Adipophilin) (Adipose differentiation related protein) (ADRP)
  • Length: 437  
  • Mass: 48075
  • Tissue specificity: Milk lipid globules.
• Sequence:

  MASVAVDPQPSVVTRVVNLPLVSSTYDLMSSAYLSTKDQYPYLKSVCEMAENGVKTITSVAMTSALPIIQKLEPQ
  IAVANTYACKGLDRIEERLPILNQPSTQIVANAKGAVTGAKDAVTTTVTGAKDSVASTITGVMDKTKGAVTGSVE
  KTKSVVSGSINTVLGSRMMQLVSSGVENALTKSELLVEQYLPLTEEELEKEAKKVEGFDLVQKPSYYVRLGSLST
  KLHSRAYQQALSRVKEAKQKSQQTISQLHSTVHLIEFARKNVYSANQKIQDAQDKLYLSWVEWKRSIGYDDTDES
  HCAEHIESRTLAIARNLTQQLQTTCHTLLSNIQGVPQNIQDQAKHMGVMAGDIYSVFRNAASFKEVSDSLLTSSK
  GQLQKMKESLDDVMDYLVNNTPLNWLVGPFYPQLTESQNAQDQGAEMDKSSQETQRSEHKTH

• Structural information:
  • Interpro: IPR004279  
  • STRING: ENSP00000276914
• Other Databases: GeneCards:  PLIN2  Malacards:  PLIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005811	lipid droplet	IBA	cellular component
GO:0019915	lipid storage	IBA	biological process
GO:0010890	positive regulation of sequestering of triglyceride	IBA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005811	lipid droplet	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015909	long-chain fatty acid transport	IEA	biological process
GO:0019915	lipid storage	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03320	PPAR signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)