• Gene id: 84725

Gene Summary

• Gene Symbol: PLEKHA8   Gene   UCSC   Ensembl
• Aliases: FAPP2
• Gene name: pleckstrin homology domain containing A8
• Alternate names: pleckstrin homology domain-containing family A member 8, PH domain-containing family A member 8, phosphatidylinositol 4-phosphate adaptor protein-2, phosphatidylinositol-four-phosphate adapter protein 2, phosphoinositol 4-phosphate adapter protein 2, pleckstri,
• Gene location: 7p14.3 (30028360: 30130482)     Exons: 19     NC_000007.14
• OMIM: 617313

Protein Summary

• Protein general information: Q96JA3  
  • Name: Pleckstrin homology domain containing family A member 8 (PH domain containing family A member 8) (Phosphatidylinositol four phosphate adapter protein 2) (FAPP 2) (Phosphoinositol 4 phosphate adapter protein 2) (hFAPP2) (Serologically defined breast cancer
  • Length: 519  
  • Mass: 58261
  • Tissue specificity: Expressed in kidney cell lines. {ECO
• Sequence:

  MEGVLYKWTNYLSGWQPRWFLLCGGILSYYDSPEDAWKGCKGSIQMAVCEIQVHSVDNTRMDLIIPGEQYFYLKA
  RSVAERQRWLVALGSAKACLTDSRTQKEKEFAENTENLKTKMSELRLYCDLLVQQVDKTKEVTTTGVSNSEEGID
  VGTLLKSTCNTFLKTLEECMQIANAAFTSELLYRTPPGSPQLAMLKSSKMKHPIIPIHNSLERQMELSTCENGSL
  NMEINGEEEILMKNKNSLYLKSAEIDCSISSEENTDDNITVQGEIRKEDGMENLKNHDNNLTQSGSDSSCSPECL
  WEEGKEVIPTFFSTMNTSFSDIELLEDSGIPTEAFLASCYAVVPVLDKLGPTVFAPVKMDLVGNIKKVNQKYITN
  KEEFTTLQKIVLHEVEADVAQVRNSATEALLWLKRGLKFLKGFLTEVKNGEKDIQTALNNAYGKTLRQHHGWVVR
  GVFALALRAAPSYEDFVAALTVKEGDHQKEAFSIGMQRDLSLYLPAMEKQLAILDTLYEVHGLESDEVV

• Structural information:
  • Protein Domains: (1..9-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR036497  IPR014830  IPR011993  IPR001849  
  • Prosite: PS50003
  • PDB: 5KDI
  • PDBsum: 5KDI
  • STRING: ENSP00000397947
• Other Databases: GeneCards:  PLEKHA8  Malacards:  PLEKHA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0008289	lipid binding	IBA	molecular function
GO:0035621	ER to Golgi ceramide transport	IBA	biological process
GO:0120009	intermembrane lipid transfer	IBA	biological process
GO:1902387	ceramide 1-phosphate binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0035627	ceramide transport	IBA	biological process
GO:1902388	ceramide 1-phosphate transfer activity	IBA	molecular function
GO:0097001	ceramide binding	IDA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0051861	glycolipid binding	IDA	molecular function
GO:0035621	ER to Golgi ceramide transport	IDA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0017089	glycolipid transfer activity	IDA	molecular function
GO:0006869	lipid transport	IDA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0120013	lipid transfer activity	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:1902389	ceramide 1-phosphate transport	IEA	biological process
GO:0046836	glycolipid transport	IEA	biological process

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881