• Gene id: 59339

Gene Summary

• Gene Symbol: PLEKHA2   Gene   UCSC   Ensembl
• Aliases: TAPP2
• Gene name: pleckstrin homology domain containing A2
• Alternate names: pleckstrin homology domain-containing family A member 2, PH domain-containing family A member 2, TAPP-2, pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2, tandem PH Domain containing protein-2, tandem PH domain-conta,
• Gene location: 8p11.22 (38901345: 38973911)     Exons: 14     NC_000008.11
• OMIM: 613992

Protein Summary

• Protein general information: Q9HB19  
  • Name: Pleckstrin homology domain containing family A member 2 (PH domain containing family A member 2) (Tandem PH domain containing protein 2) (TAPP 2)
  • Length: 425  
  • Mass: 47255
  • Tissue specificity: Highly expressed in heart, kidney, spleen and peripheral blood leukocytes. Detected at lower levels in brain, skeletal muscle, colon, thymus, liver, small intestine, placenta and lung.
• Sequence:

  MPYVDRQNRICGFLDIEEHENSGKFLRRYFILDTQANCLLWYMDNPQNLAMGAGAVGALQLTYISKVSIATPKQK
  PKTPFCFVINALSQRYFLQANDQKDMKDWVEALNQASKITVPKGGGLPMTTEVLKSLAAPPALEKKPQVAYKTEI
  IGGVVVHTPISQNGGDGQEGSEPGSHTILRRSQSYIPTSGCRASTGPPLIKSGYCVKQGNVRKSWKRRFFALDDF
  TICYFKCEQDREPLRTIFLKDVLKTHECLVKSGDLLMRDNLFEIITSSRTFYVQADSPEDMHSWIKEIGAAVQAL
  KCHPRETSFSRSISLTRPGSSSLSSGPNSILCRGRPPLEEKKALCKAPSVASSWQPWTPVPQAGEKLLPPGDTSE
  DSLFTPRPGEGAPPGVLPSSRIRHRSEPQHPKEKPFMFNLDDENIRTSDV

• Structural information:
  • Protein Domains: (7..11-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (198..29-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000482228
• Other Databases: GeneCards:  PLEKHA2  Malacards:  PLEKHA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030165	PDZ domain binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic 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: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: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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001968	fibronectin binding	IMP	molecular function
GO:0043236	laminin binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001954	positive regulation of cell-matrix adhesion	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray