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

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

rs1564801473 in KLLN;PTEN 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.

rs1554890324 in KLLN;PTEN gene and Hamartoma Syndrome, Multiple 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 24498881 2014 A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

PMID 22503188 2012 Challenges in the management of a patient with Cowden syndrome: case report and literature review.

rs1064794096 in KLLN;PTEN gene and Neoplastic Syndromes, Hereditary PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

PMID 21417916 2011 Frequency of germline PTEN mutations in differentiated thyroid cancer.

PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

PMID 25875300 2015 A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

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 23764071 2013 Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

PMID 22503188 2012 Challenges in the management of a patient with Cowden syndrome: case report and literature review.

PMID 22381246 2012 Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

PMID 10232405 1999 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

rs587776671 in KLLN;PTEN gene and PTEN Hamartoma Tumor Syndrome PMID 10777358 2000 A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease.