• Gene id: 29893

Gene Summary

• Gene Symbol: PSMC3IP   Gene   UCSC   Ensembl
• Aliases: GT198, HOP2, HUMGT198A, ODG3, TBPIP
• Gene name: PSMC3 interacting protein
• Alternate names: homologous-pairing protein 2 homolog, DBD-interacting, TBP-1-interacting protein, nuclear receptor coactivator GT198, proteasome 26S ATPase subunit 3-interacting protein, tat-binding protein 1-interacting protein,
• Gene location: 17q21.2 (105744648: 105894273)     Exons: 9     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can al
• OMIM: 608665

Protein Summary

• Protein general information: Q9P2W1  
  • Name: Homologous pairing protein 2 homolog (Nuclear receptor coactivator GT198) (PSMC3 interacting protein) (Proteasome 26S ATPase subunit 3 interacting protein) (Tat binding protein 1 interacting protein) (TBP 1 interacting protein)
  • Length: 217  
  • Mass: 24906
  • Tissue specificity: Highly expressed in testis and colon. {ECO
• Sequence:

  MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQ
  DQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAA
  TNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP

• Structural information:
  • Interpro: IPR040461  IPR010776  IPR040661  IPR036388  
  • STRING: ENSP00000377384
• Other Databases: GeneCards:  PSMC3IP  Malacards:  PSMC3IP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030374	nuclear receptor transcription coactivator activity	IMP	molecular function
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process

Diseases

Associated diseases	References
46,XX gonadal dysgenesis	KEGG:H00599
46,XX gonadal dysgenesis	KEGG:H00599
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray