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: 1209
MIM: 604783
HGNC: 2087
Ensembl: ENSG00000104853
Variants:
dbSNP: 1209
ClinVar: 1209
TCGA: ENSG00000104853
COSMIC: CLPTM1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37577761 | 2023 | De novo CLPTM1 variants with reduced GABA(A) R current response in patients with epilepsy. | 0 |
| 37577761 | 2023 | De novo CLPTM1 variants with reduced GABA(A) R current response in patients with epilepsy. | 0 |
| 30635792 | 2019 | Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma. | 9 |
| 31009812 | 2019 | Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5(p)15.33 TERT-CLPTM1Ll Region. | 21 |
| 31203567 | 2019 | Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. | 0 |
| 30635792 | 2019 | Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma. | 9 |
| 31009812 | 2019 | Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5(p)15.33 TERT-CLPTM1Ll Region. | 21 |
| 31203567 | 2019 | Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. | 0 |
| 29033187 | 2017 | A TERT-CLPTM1 locus polymorphism (rs401681) is associated with EGFR mutation in non-small cell lung cancer. | 5 |
| 29033187 | 2017 | A TERT-CLPTM1 locus polymorphism (rs401681) is associated with EGFR mutation in non-small cell lung cancer. | 5 |
| 25457634 | 2014 | Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk. | 20 |
| 25457634 | 2014 | Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk. | 20 |
| 19937600 | 2010 | Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. | 28 |
| 20572854 | 2010 | MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. | 12 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
Citation
Dessen P
CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45641/clptm1
