• Gene id: 5470

Gene Summary

• Gene Symbol: PPEF2   Gene   UCSC   Ensembl
• Aliases: PPP7CB
• Gene name: protein phosphatase with EF-hand domain 2
• Alternate names: serine/threonine-protein phosphatase with EF-hands 2, protein phosphatase 7, catalytic subunit, beta isozyme, protein phosphatase with EF hands 2, protein phosphatase, EF-hand calcium binding domain 2,
• Gene location: 4q21.1 (49002263: 48973722)     Exons: 26     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is
• OMIM: 602256

Protein Summary

• Protein general information: O14830  
  • Name: Serine/threonine protein phosphatase with EF hands 2 (PPEF 2) (EC 3.1.3.16)
  • Length: 753  
  • Mass: 86518
  • Tissue specificity: Retinal specific.
• Sequence:

  MGSGTSTQHHFAFQNAERAFKAAALIQRWYRRYVARLEMRRRCTWSIFQSIEYAGQQDQVKLHDFFSYLMDHFIP
  SSHNDRDFLTRIFTEDRFAQDSEMKKCSDYESIEVPDSYTGPRLSFPLLPDHATALVEAFRLKQQLHARYVLNLL
  YETKKHLVQLPNINRVSTCYSEEITVCGDLHGQLDDLIFIFYKNGLPSPERSYVFNGDFVDRGKDSVEILMILFA
  FMLVYPKEFHLNRGNHEDHMVNLRYGFTKEVMNKYKVHGKEILRTLQDVFCWLPLATLIDEKVLILHGGVSDITD
  LELLDKIERSKIVSTMRCKTRQKSEKQMEEKRRANQKSSAQGPIPWFLPESRSLPSSPLRLGSYKAQKTSRSSSI
  PCSGSLDGRELSRQVRSSVELELERCRQQAGLLVTGEKEEPSRSASEADSEAGELRKPTQEEWRQVVDILWSDPM
  AQEGCKANTIRGGGCYFGPDVTQQLLQKYNMQFLIRSHECKPEGYEFCHNRKVLTIFSASNYYEVGSNRGAYVKL
  GPALTPHIVQYQANKVTHTLTMRQRISRVEESALRALREKLFAHSSDLLSEFKKHDADKVGLITLSDWAAAVESV
  LHLGLPWRMLRPQLVNSSADNMLEYKSWLKNLAKEQLSRENIQSSLLETLYRNRSNLETIFRIIDSDHSGFISLD
  EFRQTWKLFSSHMNIDITDDCICDLARSIDFNKDGHIDINEFLEAFRLVEKSCPEGDASECPQATNAKDSGCSSP
  GAH

• Structural information:
  • Protein Domains: (21..4-)
    (/note="IQ-)
    (568..60-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (652..68-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (692..72-)
    (/note="EF-hand-3)
    (/evidence="EC-)
  • Interpro: IPR004843  IPR011992  IPR018247  IPR002048  IPR029052   IPR013235  IPR012008  IPR006186  
  • Prosite: PS00018 PS50222 PS00125
  • CDD: cd00051
  • STRING: ENSP00000286719
• Other Databases: GeneCards:  PPEF2  Malacards:  PPEF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004722	protein serine/threonine phosphatase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043409	negative regulation of MAPK cascade	IBA	biological process
GO:0051879	Hsp90 protein binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030145	manganese ion binding	IEA	molecular function
GO:0050906	detection of stimulus involved in sensory perception	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0004722	protein serine/threonine phosphatase activity	TAS	molecular function
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030544	Hsp70 protein binding	IDA	molecular function
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IPI	molecular function
GO:0010801	negative regulation of peptidyl-threonine phosphorylation	IDA	biological process
GO:0043405	regulation of MAP kinase activity	IC	biological process
GO:0043409	negative regulation of MAPK cascade	IDA	biological process
GO:0043506	regulation of JUN kinase activity	IC	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component

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)