• Gene id: 54477

Gene Summary

• Gene Symbol: PLEKHA5   Gene   UCSC   Ensembl
• Aliases: PEPP-2, PEPP2
• Gene name: pleckstrin homology domain containing A5
• Alternate names: pleckstrin homology domain-containing family A member 5, PH domain-containing family A member 5, phosphoinositol 3-phosphate-binding protein-2, pleckstrin homology domain containing, family A member 5,
• Gene location: 12p12.3 (19129679: 19376399)     Exons: 39     NC_000012.12

Protein Summary

• Protein general information: Q9HAU0  
  • Name: Pleckstrin homology domain containing family A member 5 (PH domain containing family A member 5) (Phosphoinositol 3 phosphate binding protein 2) (PEPP 2)
  • Length: 1116  
  • Mass: 127464
  • Tissue specificity: Highly expressed in heart and kidney. {ECO
• Sequence:

  MAADLNLEWISLPRSWTYGITRGGRVFFINEEAKSTTWLHPVTGEAVVTGHRRQSTDLPTGWEEAYTFEGARYYI
  NHNERKVTCKHPVTGQPSQDNCIFVVNEQTVATMTSEEKKERPISMINEASNYNVTSDYAVHPMSPVGRTSRASK
  KVHNFGKRSNSIKRNPNAPVVRRGWLYKQDSTGMKLWKKRWFVLSDLCLFYYRDEKEEGILGSILLPSFQIALLT
  SEDHINRKYAFKAAHPNMRTYYFCTDTGKEMELWMKAMLDAALVQTEPVKRVDKITSENAPTKETNNIPNHRVLI
  KPEIQNNQKNKEMSKIEEKKALEAEKYGFQKDGQDRPLTKINSVKLNSLPSEYESGSACPAQTVHYRPINLSSSE
  NKIVNVSLADLRGGNRPNTGPLYTEADRVIQRTNSMQQLEQWIKIQKGRGHEEETRGVISYQTLPRNMPSHRAQI
  MARYPEGYRTLPRNSKTRPESICSVTPSTHDKTLGPGAEEKRRSMRDDTMWQLYEWQQRQFYNKQSTLPRHSTLS
  SPKTMVNISDQTMHSIPTSPSHGSIAAYQGYSPQRTYRSEVSSPIQRGDVTIDRRHRAHHPKHVYVPDRRSVPAG
  LTLQSVSPQSLQGKTLSQDEGRGTLYKYRPEEVDIDAKLSRLCEQDKVVHALEEKLQQLHKEKYTLEQALLSASQ
  EIEMHADNPAAIQTVVLQRDDLQNGLLSTCRELSRATAELERAWREYDKLEYDVTVTRNQMQEQLDHLGEVQTES
  AGIQRAQIQKELWRIQDVMEGLSKHKQQRGTTEIGMIGSKPFSTVKYKNEGPDYRLYKSEPELTTVAEVDESNGE
  EKSEPVSEIETSVVKGSHFPVGVVPPRAKSPTPESSTIASYVTLRKTKKMMDLRTERPRSAVEQLCLAESTRPRM
  TVEEQMERIRRHQQACLREKKKGLNVIGASDQSPLQSPSNLRDNPFRTTQTRRRDDKELDTAIRENDVKPDHETP
  ATEIVQLKETEPQNVDFSKELKKTENISYEMLFEPEPNGVNSVEMMDKERNKDKMPEDVTFSPQDETQTANHKPE
  EHPEENTKNSVDEQEETVISYESTPEVSRGNQTMAVKSLSPSPESSASPVPSTQPQLTEGSHFMCV

• Structural information:
  • Protein Domains: (10..4-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (56..8-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (169..26-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR040392  IPR001202  IPR036020  
  • Prosite: PS50003 PS01159 PS50020
  • CDD: cd13248 cd00201
  • PDB: 2DKP
  • PDBsum: 2DKP
  • STRING: ENSP00000404296
• Other Databases: GeneCards:  PLEKHA5  Malacards:  PLEKHA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IBA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0010314	phosphatidylinositol-5-phosphate binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
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:0061458	reproductive system development	IEA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IEA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IEA	molecular function
GO:0010314	phosphatidylinositol-5-phosphate binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0008150	biological_process	ND	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