• Gene id: 160760

Gene Summary

• Gene Symbol: PPTC7   Gene   UCSC   Ensembl
• Aliases: TA-PP2C, TAPP2C
• Gene name: protein phosphatase targeting COQ7
• Alternate names: protein phosphatase PTC7 homolog, PTC7 protein phosphatase homolog,
• Gene location: 12q24.11 (110583317: 110533244)     Exons: 7     NC_000012.12
• OMIM: 609668

Protein Summary

• Protein general information: Q8NI37  
  • Name: Protein phosphatase PTC7 homolog (EC 3.1.3.16) (T cell activation protein phosphatase 2C) (TA PP2C) (T cell activation protein phosphatase 2C like)
  • Length: 304  
  • Mass: 32646
  • Tissue specificity: Expressed in keratinocytes (at protein level). {ECO
• Sequence:

  MFSVLSYGRLVARAVLGGLSQTDPRAGGGGGGDYGLVTAGCGFGKDFRKGLLKKGACYGDDACFVARHRSADVLG
  VADGVGGWRDYGVDPSQFSGTLMRTCERLVKEGRFVPSNPIGILTTSYCELLQNKVPLLGSSTACIVVLDRTSHR
  LHTANLGDSGFLVVRGGEVVHRSDEQQHYFNTPFQLSIAPPEAEGVVLSDSPDAADSTSFDVQLGDIILTATDGL
  FDNMPDYMILQELKKLKNSNYESIQQTARSIAEQAHELAYDPNYMSPFAQFACDNGLNVRGGKPDDITVLLSIVA
  EYTD

• Structural information:
  • Protein Domains: (69..29-)
    (/note="PPM-type-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01082"-)
  • Interpro: IPR036457  IPR001932  IPR039123  
  • Prosite: PS51746
  • STRING: ENSP00000346255
• Other Databases: GeneCards:  PPTC7  Malacards:  PPTC7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IEA	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:0005759	mitochondrial matrix	IEA	cellular component
GO:0005759	mitochondrial matrix	IMP	cellular component
GO:0004722	protein serine/threonine phosphatase activity	IMP	molecular function
GO:0010795	regulation of ubiquinone biosynthetic process	IMP	biological process
GO:0070262	peptidyl-serine dephosphorylation	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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