Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CLN2,GIG1,LPIC,SCAR7,TPP-1
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: 1200
MIM: 607998
HGNC: 2073
Ensembl: ENSG00000166340
Variants:
dbSNP: 1200
ClinVar: 1200
TCGA: ENSG00000166340
COSMIC: TPP1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166169879 | cerliponase alfa | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38763144 | 2024 | A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. | 0 |
| 38763144 | 2024 | A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. | 0 |
| 37606165 | 2023 | TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal Cancer. | 0 |
| 37922835 | 2023 | CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing. | 0 |
| 37606165 | 2023 | TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal Cancer. | 0 |
| 37922835 | 2023 | CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing. | 0 |
| 36147632 | 2022 | Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation. | 0 |
| 36147632 | 2022 | Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation. | 0 |
| 32146219 | 2020 | Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease. | 9 |
| 32631363 | 2020 | Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project. | 13 |
| 32735728 | 2020 | Identification of three predictors of gastric cancer progression and prognosis. | 9 |
| 33317560 | 2020 | Tripeptidyl peptidase I promotes human endometrial epithelial cell adhesive capacity implying a role in receptivity. | 3 |
| 32146219 | 2020 | Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease. | 9 |
| 32631363 | 2020 | Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project. | 13 |
| 32735728 | 2020 | Identification of three predictors of gastric cancer progression and prognosis. | 9 |
Citation
Dessen P
TPP1 (tripeptidyl peptidase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46412/tpp1
