Gene: POT1

Alternate names for this Gene: CMM10|GLM9|HPOT1

Gene Summary: This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.33

Description of this Gene: protection of telomeres 1

Type of Gene: protein-coding

rs17246404 in POT1 gene and Chronic Lymphocytic Leukemia PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

rs727505 in POT1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs797045168 in POT1 gene and GLIOMA SUSCEPTIBILITY 9 PMID 25482530 2015 Germline mutations in shelterin complex genes are associated with familial glioma.

rs537377921 in POT1 gene and MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 PMID 24686846 2014 Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

PMID 24686849 2014 POT1 loss-of-function variants predispose to familial melanoma.

rs59294613 in POT1 gene and Renal Cell Carcinoma PMID 28598434 2017 Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

rs17246404 in POT1 gene and Small Lymphocytic Lymphoma PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.