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CDKN2A - Sahlgrenska Universitetssjukhuset

At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. Gene resources for CDKN2A. Ensembl ENSG00000147889 Curated. Ensembl region in detail Ensembl gene sequence.

Cdkn2a gene

To date, 2 genes have been primarily linked to familial melanoma; they are called CDKN2A and CDK4. A mutation (alteration) in either of these genes gives a Inactivation of tumor suppressor genes on chromosome 9p is considered a critical event in renal cell carcinoma pathogenesis. Alterations of CDKN2A on 9p21 6 Feb 2014 3 locus and its known gene products [p15/cyclin-dependent kinase inhibitor 2B ( CDKN2B)–p16/CDKN2A–p14(p19)/alternative reading frame ( CDKN2A gene is one of the most frequent tumor suppressors genes altered between 50 and 80% of melanomas [9]; it encodes p16 and p14ARF proteins, which cyclin dependent kinase inhibitor 2A (CDKN2A), transcript variant 4, mRNA. ( from RefSeq NM_058195) RefSeq Summary (NM_058195): This gene generates CDKN2A gene expression was about fourfold greater in CD than in SCA and NFA. The gene expressions of cyclins D1, E1, and B1, but not of A1, in CD were Leu16Arg) variant in the CDKN2A gene, while its association with pancreatic Leu16Arg) CDKN2A mutation as pathogenic for hereditary melanoma and The CDKN2A gene encodes two alternatively spliced transcripts, p16INK4A and p14ARF, which differ in their first exon. The p16INK4A protein inhibits the 26 Mar 1998 Background.

Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. GENERAL INFORMATIONi. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Bi-allelic Loss of CDKN2A Initiates Melanoma Invasion via

Gene Description. CDKN2A, cyclin-dependent kinase inhibitor 2A, is a tumor suppressor ( PMID: 30562755) that encodes p16 and p14ARF from alternate reading frames, which function to inhibit Cdk4 and Cdk6 and regulate Tp53 activity to promote cell-cycle arrest ( PMID: 23875803, PMID: 17055429, PMID: 27428416 ).

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Approved name. cyclin dependent kinase inhibitor 2A. Locus type. gene with protein product. HGNC ID. The status and the expression of cyclin-dependent kinase inhibitor A (CDKN2A) family genes, named CDKN2A,. CDKN2B, and CDKN2C and of cyclin Ds (D1, 10 Mar 2007 General information. Gene symbol, CDKN2A.

As reported data on CDKN2A alterations in childhood ALL are discrepant, it remains important to reveal the role of this gene in cancer development. In this study, we have used mutation and methylation analyses as well as genomic technologies to elucidate the principal mode of CDKN2A inactivation in childhood ALL. Gene: CDKN2A OTTHUMG00000019686.
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Alliance of Genome Resources HGNC:1787. Nucleotide resources for CDKN2A. INSDC L27211 Curated.

ENA GenBank DDBJ. RefSeq NM Description. The CDKN2A gene encodes different transcripts involved mostly in cell cycle regulation and cellular senescence, including the tumour suppressor proteins p16 and p19 [ 1494 ]. At least three alternatively spliced variants encoding distinct proteins have been reported.
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CDKN2A gene expression in Bgee. Gene: CDKN2A - ENSG00000147889 - Homo sapiens (human) 2019-06-01 HUGO Gene Nomenclature Committee (HGNC) approved gene symbol report CDKN2A, also known as cyclin-dependent kinase inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3. It is ubiquitously expressed in many tissues and cell types. [6] The gene codes for two proteins , including the INK4 family member p16 (or p16INK4a) and p14arf . [7] CDKN2A gene mutations involved in cancer impair production of functional p16(INK4A) or, less commonly, p14(ARF), which can result in uncontrolled cell growth and tumor formation. Somatic CDKN2A gene mutations have been found in some people with brain tumors and in children with a blood cancer called acute lymphoblastic leukemia. The Cyclin-dependent kinase inhibitor 2A (CDKN2A) gene encodes several protein isoforms that function as inhibitors of CDK4 and ARF. Missense mutations, nonsense mutations, silent mutations, in-frame deletions, frameshift deletions and insertions, and whole gene deletions are observed in cancer such as cancers of the genital tract, mesothelioma, ovarian cancer, skin cancer, and multiple other cancer types.