Identity
HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
ACNINV2,MDS033,MSTP064,PEN-2,PEN2
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: 55851
MIM: 607632
HGNC: 30100
Ensembl: ENSG00000205155
Variants:
dbSNP: 55851
ClinVar: 55851
TCGA: ENSG00000205155
COSMIC: PSENEN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000205155 | ENST00000222266 | Q9NZ42 |
| ENSG00000205155 | ENST00000587708 | Q9NZ42 |
| ENSG00000205155 | ENST00000591949 | K7ES79 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34964690 | 2022 | Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. | 7 |
| 35458534 | 2022 | Human Papillomavirus L2 Capsid Protein Stabilizes γ-Secretase during Viral Infection. | 7 |
| 34964690 | 2022 | Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. | 7 |
| 35458534 | 2022 | Human Papillomavirus L2 Capsid Protein Stabilizes γ-Secretase during Viral Infection. | 7 |
| 34330582 | 2021 | Mutations in γ-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa. | 2 |
| 34330582 | 2021 | Mutations in γ-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa. | 2 |
| 32184288 | 2020 | SERP1 is an assembly regulator of γ-secretase in metabolic stress conditions. | 8 |
| 32631487 | 2020 | Super-resolution microscopy reveals majorly mono- and dimeric presenilin1/γ-secretase at the cell surface. | 15 |
| 32184288 | 2020 | SERP1 is an assembly regulator of γ-secretase in metabolic stress conditions. | 8 |
| 32631487 | 2020 | Super-resolution microscopy reveals majorly mono- and dimeric presenilin1/γ-secretase at the cell surface. | 15 |
| 28922471 | 2018 | A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. | 22 |
| 29047105 | 2018 | γ-Secretase inhibitor reduces immunosuppressive cells and enhances tumour immunity in head and neck squamous cell carcinoma. | 33 |
| 29851073 | 2018 | Retrograde transport of γ-secretase from endosomes to the trans-Golgi network regulates Aβ42 production. | 4 |
| 30105992 | 2018 | Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa. | 7 |
| 28922471 | 2018 | A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. | 22 |
Citation
Dessen P
PSENEN (presenilin enhancer, gamma-secretase subunit)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46841/psenen
