• Gene id: 55105

Gene Summary

• Gene Symbol: GPATCH2   Gene   UCSC   Ensembl
• Aliases: CT110, GPATC2, PPP1R30, Pfa1
• Gene name: G-patch domain containing 2
• Alternate names: G patch domain-containing protein 2, cancer/testis antigen 110, protein phosphatase 1, regulatory subunit 30,
• Gene location: 1q41 (217631089: 217426991)     Exons: 14     NC_000001.11
• Gene summary(Entrez): The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [pro
• OMIM: 616836

Protein Summary

• Protein general information: Q9NW75  
  • Name: G patch domain containing protein 2
  • Length: 528  
  • Mass: 58944
  • Tissue specificity: Testis. {ECO
• Sequence:

  MFGAAGRQPIGAPAAGNSWHFSRTMEELVHDLVSALEESSEQARGGFAETGDHSRSISCPLKRQARKRRGRKRRS
  YNVHHPWETGHCLSEGSDSSLEEPSKDYRENHNNNKKDHSDSDDQMLVAKRRPSSNLNNNVRGKRPLWHESDFAV
  DNVGNRTLRRRRKVKRMAVDLPQDISNKRTMTQPPEGCRDQDMDSDRAYQYQEFTKNKVKKRKLKIIRQGPKIQD
  EGVVLESEETNQTNKDKMECEEQKVSDELMSESDSSSLSSTDAGLFTNDEGRQGDDEQSDWFYEKESGGACGITG
  VVPWWEKEDPTELDKNVPDPVFESILTGSFPLMSHPSRRGFQARLSRLHGMSSKNIKKSGGTPTSMVPIPGPVGN
  KRMVHFSPDSHHHDHWFSPGARTEHDQHQLLRDNRAERGHKKNCSVRTASRQTSMHLGSLCTGDIKRRRKAAPLP
  GPTTAGFVGENAQPILENNIGNRMLQNMGWTPGSGLGRDGKGISEPIQAMQRPKGLGLGFPLPKSTSATTTPNAG
  KSA

• Structural information:
  • Protein Domains: (467..51-)
    (/note="G-patch-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00092"-)
  • Interpro: IPR000467  IPR026291  
  • Prosite: PS50174
  • STRING: ENSP00000355902
• Other Databases: GeneCards:  GPATCH2  Malacards:  GPATCH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0010923	negative regulation of phosphatase activity	IBA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray