Gene: PTEN
Alternate names for this Gene: 10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1
Gene Summary: This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 10
Location in Chromosome : 10q23.31
Description of this Gene: phosphatase and tensin homolog
Type of Gene: protein-coding
Gene: KLLN
Alternate names for this Gene: CWS4|KILLIN
Gene Summary: The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53.
Gene is located in Chromosome: 10
Location in Chromosome : 10q23.31
Description of this Gene: killin, p53 regulated DNA replication inhibitor
Type of Gene: protein-coding
rs1564801388 in
PTEN;KLLN gene and
Autism Spectrum Disorders
PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
rs1064796078 in
PTEN;KLLN gene and
Neoplastic Syndromes, Hereditary
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 20223021 2006 Germline PTEN mutations are rare and highly penetrant.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
rs587781912 in
PTEN;KLLN gene and
PTEN Hamartoma Tumor Syndrome
PMID 20223021 2006 Germline PTEN mutations are rare and highly penetrant.
PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 20600018 2010 Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 16773562 2006 Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.