Identity
HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
GT198,HOP2,HUMGT198A,ODG3,TBPIP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29893
MIM: 608665
HGNC: 17928
Ensembl: ENSG00000131470
Variants:
dbSNP: 29893
ClinVar: 29893
TCGA: ENSG00000131470
COSMIC: PSMC3IP
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell Cycle | REACTOME | R-HSA-1640170 |
| Meiosis | REACTOME | R-HSA-1500620 |
| Meiotic recombination | REACTOME | R-HSA-912446 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34878148 | 2022 | Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency. | 6 |
| 34878148 | 2022 | Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency. | 6 |
| 34079088 | 2021 | Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L. | 18 |
| 34079088 | 2021 | Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L. | 18 |
| 30362169 | 2019 | Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell. | 7 |
| 30406445 | 2019 | Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. | 23 |
| 30362169 | 2019 | Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell. | 7 |
| 30406445 | 2019 | Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. | 23 |
| 29240891 | 2018 | Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. | 25 |
| 29240891 | 2018 | Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. | 25 |
| 24481226 | 2014 | No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. | 7 |
| 24481226 | 2014 | No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. | 7 |
| 24097974 | 2013 | Human ovarian cancer stroma contains luteinized theca cells harboring tumor suppressor gene GT198 mutations. | 9 |
| 24097974 | 2013 | Human ovarian cancer stroma contains luteinized theca cells harboring tumor suppressor gene GT198 mutations. | 9 |
| 21963259 | 2011 | XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. | 52 |
Citation
Dessen P
PSMC3IP (PSMC3 interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-02-01
Online version: http://atlasgeneticsoncology.org/gene/53699/gene-explorer/new-content/meetings/
