Gene: CCND1

Alternate names for this Gene: BCL1|D11S287E|PRAD1|U21B31

Gene Summary: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.3

Description of this Gene: cyclin D1

Type of Gene: protein-coding

rs3212880 in CCND1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34507830 in CCND1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs603965 in CCND1 gene and Multiple Myeloma PMID 23502783 2013 The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

rs9344 in CCND1 gene and Primary amyloidosis PMID 28025584 2017 In AL amyloidosis, rs9344 at the splice site of cyclin D1, promoting translocation (11;14), reached the highest significance, P=7.80 × 10<sup>-11</sup>; the SNP was only marginally significant in MM.

PMID 28679651 2017 Genome-wide association study of clinical parameters in immunoglobulin light chain amyloidosis in three patient cohorts.

rs3017621 in CCND1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.