Gene: CLPTM1L
Alternate names for this Gene: CRR9
Gene Summary: The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers.
Gene is located in Chromosome: 5
Location in Chromosome : 5p15.33
Description of this Gene: CLPTM1 like
Type of Gene: protein-coding
rs31489 in
CLPTM1L gene and
Adenocarcinoma of lung (disorder)
PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
PMID 31009812 2019 Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region.
PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.
rs401681 in
CLPTM1L gene and
Basal Cell Cancer
PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
PMID 19151717 2009 Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
PMID 25855136 2015 New basal cell carcinoma susceptibility loci.
PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs401681 in
CLPTM1L gene and
Basal Cell Neoplasm
PMID 25855136 2015 New basal cell carcinoma susceptibility loci.
PMID 19151717 2009 Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs401681 in
CLPTM1L gene and
Basal cell carcinoma
PMID 19151717 2009 Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
PMID 25855136 2015 New basal cell carcinoma susceptibility loci.
PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs381949 in
CLPTM1L gene and
Benign Prostatic Hyperplasia
PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
rs401681 in
CLPTM1L gene and
Carcinoma of bladder
PMID 20972438 2010 A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
PMID 24163127 2014 Genome-wide association study identifies multiple loci associated with bladder cancer risk.
rs380286 in
CLPTM1L gene and
Carcinoma of lung
PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
PMID 31009812 2019 Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region.
PMID 18978787 2008 Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
rs401681 in
CLPTM1L gene and
Carcinoma, Basal Cell
PMID 24403052 2014 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
PMID 19151717 2009 Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
rs31490 in
CLPTM1L gene and
Chronic Lymphocytic Leukemia
PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
rs380286 in
CLPTM1L gene and
Cutaneous Melanoma
PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
rs381949 in
CLPTM1L gene and
Lower Urinary Tract Symptoms
PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
rs27070 in
CLPTM1L gene and
Malignant Testicular Germ Cell Tumor
PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
rs380286 in
CLPTM1L gene and
Malignant melanoma of skin of lower limb
PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
rs380286 in
CLPTM1L gene and
Malignant melanoma of skin of upper limb
PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
rs10462706 in
CLPTM1L gene and
Malignant neoplasm of anterior portion of floor of mouth
PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
rs10462706 in
CLPTM1L gene and
Malignant neoplasm of floor of mouth
PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
rs10462706 in
CLPTM1L gene and
Malignant neoplasm of lateral floor of mouth
PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
rs31489 in
CLPTM1L gene and
Malignant neoplasm of lung
PMID 18978790 2008 Lung cancer susceptibility locus at 5p15.33.
PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
PMID 18978787 2008 Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.
rs10462706 in
CLPTM1L gene and
Malignant neoplasm of mouth
PMID 27749845 2016 Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L).
rs10462706 in
CLPTM1L gene and
Malignant neoplasm of other sites within the lip and oral cavity
PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
rs10462706 in
CLPTM1L gene and
Malignant neoplasm of other specified parts of mouth
PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
rs401681 in
CLPTM1L gene and
Malignant neoplasm of pancreas
PMID 20101243 2010 A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
rs401681 in
CLPTM1L gene and
Malignant neoplasm of urinary bladder
PMID 24163127 2014 Genome-wide association study identifies multiple loci associated with bladder cancer risk.
PMID 20972438 2010 A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
rs31489 in
CLPTM1L gene and
Nasopharyngeal Neoplasms
PMID 26545403 2016 A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry.
PMID 27436580 2016 An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma.
rs31489 in
CLPTM1L gene and
Nasopharyngeal carcinoma
PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
rs401681 in
CLPTM1L gene and
Non-Small Cell Lung Carcinoma
PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.
rs31490 in
CLPTM1L gene and
Pancreatic carcinoma
PMID 25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
PMID 29422604 2018 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
PMID 26098869 2015 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.
PMID 20101243 2010 A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
rs381949 in
CLPTM1L gene and
Prostate specific antigen measurement
PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
PMID 21160077 2010 Genetic correction of PSA values using sequence variants associated with PSA levels.
rs75630086 in
CLPTM1L gene and
RDW - Red blood cell distribution width result
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs75630086 in
CLPTM1L gene and
Red cell distribution width determination
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs31490 in
CLPTM1L gene and
Small Lymphocytic Lymphoma
PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
rs467095 in
CLPTM1L gene and
Squamous cell carcinoma of lung
PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
rs452932 in
CLPTM1L gene and
Uveal melanoma
PMID 28781888 2017 A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
rs401681 in
CLPTM1L gene and
melanoma
PMID 21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.