PDGFRL gene

platelet derived growth factor receptor like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]

From NCBI Gene:

  • Hepatocellular carcinoma

From UniProt:

Colorectal cancer (CRC): A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. [MIM:114500]

A polymorphism in PDGFRL has been reported to be associated with susceptibility to Behcet disease (PubMed:22926996). Behcet disease is a complex multiple-system disorder characterized by recurrent oral ulcerations, recurrent genital ulcerations, typical skin lesions, and uveitis. Behcet disease also involves joints, blood vessels, musculoskeletal, neurological systems, and the gastrointestinal tract.

Cytogenetic Location: 8p22-p21.3, which is the short (p) arm of chromosome 8 between positions 22 and 21.3

Molecular Location: base pairs 17,576,433 to 17,643,133 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p22-p21.3, which is the short (p) arm of chromosome 8 between positions 22 and 21.3
  • PDGRL
  • PRLTS