CDKN2C

CDKN2C

A gene on chromosome 1p32 that encodes a member of the INK4 family of cyclin-dependent kinase inhibitors, which form a complex with CDK6 and to a lesser extent with CDK4, preventing activation of CDK kinases and thus acting as cell growth regulators by controlling cell cycle progression through G1. CDKN2C inhibits cell growth and proliferation with dependence on endogenous retinoblastoma protein.
References in periodicals archive ?
FISH analysis using dual color probes for the CDKN2C gene at 1p32.3 and CKS1B gene at 1q21.3 confirmed three copies of 1q in 5.5% of bone marrow cells.
Boikos et al., "The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes," Clinical Genetics, vol.
Based on their structure and CDK specificity, CDKIs are classified into the INK4 family CDKIs ([p16.sup.INK4a] (Cdkn2a), [p15.sup.INK4b] (Cdkn2b), [p18.sup.INK4c] (Cdkn2c), and [p19.sup.INK4d] (Cdkn2d)) that inhibit CDK4/6 activity by competing with cyclin D to bind CDK4/6 and the Cip/Kip family CDKIs ([p21.sup.Cip1] (Cdkn1a), [p27.sup.Kip1] (Cdkn1b), and [p57.sup.Kip2] (Cdkn1c)) that associate with both cyclins and CDKs and interfere with the activities of cyclin D-, E-, A-, and B-CDK complexes.
However effects on expression of 5 other genes, CDKN2C, FHL1, HGF, IL1RL1, CD53, are associated with tumor growth and carcinogenesis.
1p32.3 may also be hemi- and homozygously deleted and contains the two target genes, FAF1 and CDKN2C. CDKN2C is a cyclin-dependent kinase 4 inhibitor involved in negative regulation of the cell cycle, whereas FAF1 encodes a protein involved in initiation and/or enhancement of apoptosis through the Fas pathway.
For example, the downregulation of CDKN2C through del(1p), or the inactivation of CDKN2A via DNA methylation changes may both deregulate the [G.sub.1]/S transition as these genes encode cyclin-dependent kinase inhibitors [65, 103].
For instance, mutations in the HRAS [3] (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) gene and structural rearrangements affecting the CDKN2C [cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)] gene were identified in the melanoma patient of the aforementioned study.
[3] Human genes: HRAS, v-Ha-ras Harvey rat sarcoma viral oncogene homolog; CDKN2C, cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4); NRAS, neuroblastoma RAS viral (v-ras) oncogene homolog; CDK8, cyclin-dependent kinase 8; KRAS, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; BRAF, v-raf murine sarcoma viral oncogene homolog B1.
Gene variants of TXN, CDKN2C, GSTM3, PTH1R, CKB, AOC1, AOC3, TIMP1, and PTN have been identified as other additional genes associated with defense response and inflammatory response in the pathogenesis of DPN (Figure 2) [27].
Triptolide downregulated the cell cycle-related genes E2F2 E2F3, E2F5, CDKN2C, CDK7, CDC23, and SMAD3; the MAPK signaling pathway genes FOS, CASP3, JUND, KRAS, MAP2K2; and the Wnt signaling pathway genes WNT4, MYC, and AXIN2.
(78) Among genes overexpressed in MM, several were involved in cell cycle checkpoints, such as CDK1/CDC2 (cyclin-dependent kinase 1), CDC6 (cell division cycle 6, a regulator of replication), CDKN2C (cyclin-dependent kinase inhibitor 2C, p18), CCNH (cyclin H), CCNB1 (cyclin B1, controlling the cell cycle at the G2/ M transition), CHEK1 (Chk1 is required for checkpoint-mediated cell cycle arrest in response to DNA damage), and FOXM1 (forkhead transcription factor, a regulator of gene expression in the G2 phase).
Identification of 2 distinct deleted regions on the short arm of chromosome 1 and rare mutation of the CDKN2C gene from 1 p32 in oligodendroglial tumors.