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FLASH GENE
Symbol CLPTM1L contributors: mct - updated : 13-12-2022
HGNC name CLPTM1-like
HGNC id 24308
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in CDDP (cisplatin)-resistant ovarian tumor cell lines
tumoral   amplification    
in early stages of non-small cell lung cancer
tumoral     --over  
in lung cancer tissues relative to normal tissues, especially in lung adenocarcinoma
tumoral     --over  
in pancreatic endocrine tumors
Susceptibility
  • to lung cancer
  • to squamous cell carcinoma of the head and neck
  • to skin cancer
  • to uveal melanoma (UM)
  • to Telomere length (TL) shortening
  • to modified age of onset for basal cell carcinomas (BCC) in Gorlin syndrome
  • Variant & Polymorphism insertion/deletion
  • SNPs of TERT-rs2736098 (C > T) and CLPTM1L-rs401681(C > T), may be associated with a reduced risk of squamous cell carcinoma of the head and neck, particularly for their combined effect
  • SNP (rs401681) in the TERT-CLPTM1L locus identified as a susceptibility locus to skin cancer
  • in UM rs452384 is a functional variant that mediates allele-specific binding of the NKX2.4 nuclear factor and the transcriptional activity of the region, including TERT and CLPTM1L
  • exposure to polycyclic aromatic hydrocarbons (PAHs) can accelerate the TL shortening and this effect can be modified by TERT-CLPTM1L variants
  • risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS