Gene: CCND2-AS1

Alternate names for this Gene: CCND2-AS2

Gene Summary:

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.32

Description of this Gene: CCND2 antisense RNA 1

Type of Gene: ncRNA

Gene: CCND2

Alternate names for this Gene: KIAK0002|MPPH3

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 through 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 CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3).

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.32

Description of this Gene: cyclin D2

Type of Gene: protein-coding

rs76895963 in CCND2-AS1;CCND2 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs76895963 in CCND2-AS1;CCND2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

rs76895963 in CCND2-AS1;CCND2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs76895963 in CCND2-AS1;CCND2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76895963 in CCND2-AS1;CCND2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29358691 2018 Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

PMID 31118516 2019 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs76895963 in CCND2-AS1;CCND2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.