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

rs3217810 in CCND2 gene and Adenocarcinoma of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs3217810 in CCND2 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs3217810 in CCND2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3217810 in CCND2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs3217810 in CCND2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs3217810 in CCND2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3217810 in CCND2 gene and Colorectal Carcinoma PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

rs3217810 in CCND2 gene and Colorectal Neoplasms PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs12299509 in CCND2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs587777618 in CCND2 gene and Dysmorphic features PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

rs587777618 in CCND2 gene and MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

rs3217810 in CCND2 gene and Malignant neoplasm of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs3217810 in CCND2 gene and Malignant tumor of colon PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs587777618 in CCND2 gene and Movement Disorders PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

rs587777621 in CCND2 gene and Multiple congenital anomalies PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

rs587777618 in CCND2 gene and Overgrowth PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.