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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCND2
cyclin D2
Chromosome 12 Β· 12p13.32
NCBI Gene: 894Ensembl: ENSG00000118971.10HGNC: HGNC:1583UniProt: P30279
263PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuschromatinnucleoplasmmegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalusneurodegenerative diseasediabetes mellitus
✦AI Summary

CCND2 (cyclin D2) is a regulatory component of the cyclin D2-CDK4 complex that controls G1/S phase transition in the cell cycle 1. As a key integrator of mitogenic signals, CCND2 phosphorylates retinoblastoma protein (RB1), enabling dissociation of E2F transcription factors and subsequent S-phase gene expression 1. During early G1 phase, CCND2 hypophosphorylates RB1 to enforce commitment to DNA replication 1. Beyond canonical cell-cycle control, CCND2 has emerged as functionally important in regenerative medicine and disease contexts. CCND2 overexpression in induced pluripotent stem cell-derived cardiomyocytes significantly enhanced myocardial repair following infarction in a swine model, improving left ventricular function and reducing fibrosis through enhanced cell proliferation and paracrine signaling 2. In pancreatic development, CCND2 plays a secondary role to CCNA2 in perinatal Ξ²-cell proliferation, with CCND2-antisense 1 lincRNA positively regulating cyclin D2 expression 3. CCND2 dysregulation contributes to malignancy. CCND2 translocations characterize cyclin D1-negative mantle cell lymphoma cases 4, and CCND2 amplification occurs in malignant gliomas 5. MicroRNA-610 suppresses glioblastoma proliferation by directly targeting CCND2 6. CCND2 promoter methylation correlates with hepatocellular carcinoma progression and combines with AFP for improved diagnostic sensitivity 7.

Sources cited
1
D-type cyclins including CCND2 couple extracellular signals to G1/S transition, form holoenzymes with CDK4/CDK6, and phosphorylate RB protein
PMID: 7610482
2
CCND2 overexpression in cardiomyocytes enhances myocardial repair after infarction through increased proliferation and paracrine effects
PMID: 33951921
3
CCND2 assists CCNA2 in perinatal Ξ²-cell proliferation; CCND2-antisense 1 lincRNA positively regulates cyclin D2 expression
PMID: 40411825
4
Most cyclin D1-negative mantle cell lymphoma cases harbor CCND2 translocations with various gene partners
PMID: 39571691
5
CCND2 gene amplification occurs in malignant gliomas, contributing to loss of cell cycle control
PMID: 10416984
6
MicroRNA-610 directly binds CCND2 3'UTR and represses its expression to suppress glioblastoma cell proliferation
PMID: 26782072
7
CCND2 promoter methylation correlates with hepatocellular carcinoma progression and improves diagnostic sensitivity when combined with AFP
PMID: 33320844
Disease Associationsβ“˜21
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3Open Targets
0.81Strong
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalusOpen Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.57Moderate
diabetes mellitusOpen Targets
0.55Moderate
type 2 diabetes mellitusOpen Targets
0.53Moderate
colorectal cancerOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.51Moderate
colorectal adenocarcinomaOpen Targets
0.46Moderate
colonic neoplasmOpen Targets
0.46Moderate
diabetic eye diseaseOpen Targets
0.45Moderate
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1Open Targets
0.45Moderate
colon adenocarcinomaOpen Targets
0.44Moderate
benign colon neoplasmOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
chronic lymphocytic leukemiaOpen Targets
0.41Moderate
diabetic retinopathyOpen Targets
0.41Moderate
atrial fibrillationOpen Targets
0.40Moderate
anal neoplasmOpen Targets
0.40Moderate
rectal neoplasmOpen Targets
0.40Moderate
colon carcinomaOpen Targets
0.38Weak
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3UniProt
Pathogenic Variants17
NM_001759.4(CCND2):c.838A>C (p.Thr280Pro)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|not provided|Seizure
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 271
NM_001759.4(CCND2):c.829C>T (p.Gln277Ter)Likely pathogenic
not provided|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
β˜…β˜…β˜†β˜†2024β†’ Residue 277
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 281
NM_001759.4(CCND2):c.841C>G (p.Pro281Ala)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 281
NM_001759.4(CCND2):c.851T>A (p.Val284Glu)Pathogenic
not provided|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
β˜…β˜…β˜†β˜†2023β†’ Residue 284
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 280
NM_001759.4(CCND2):c.806_818dup (p.Glu274fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 274
NM_001759.4(CCND2):c.643C>T (p.Gln215Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 215
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
β˜…β˜†β˜†β˜†2024β†’ Residue 281
NM_001759.4(CCND2):c.416_419dup (p.Leu141fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 141
NM_001759.4(CCND2):c.802G>T (p.Gly268Ter)Likely pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
β˜…β˜†β˜†β˜†2023β†’ Residue 268
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)Pathogenic
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
β˜…β˜†β˜†β˜†2023β†’ Residue 270
NM_001759.4(CCND2):c.793C>T (p.Gln265Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 265
NM_001759.4(CCND2):c.814G>T (p.Glu272Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2018β†’ Residue 272
View on ClinVar β†—
Related Genes
CDK2Protein interaction100%CDKN1BProtein interaction100%CDK4Protein interaction100%CDKN1AProtein interaction100%RB1Protein interaction100%CDK1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
85%
Brain
37%
Lung
25%
Ovary
21%
Liver
4%
Gene Interaction Network
Click a node to explore
CCND2CDK2CDKN1BCDK4CDKN1ARB1CDK1
PROTEIN STRUCTURE
Preparing viewer…
PDB6EI2 Β· 1.61 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.20 [0.11–0.39]
RankingsWhere CCND2 stands among ~20K protein-coding genes
  • #1,429of 20,598
    Most Researched263 Β· top 10%
  • #2,315of 5,498
    Most Pathogenic Variants17
  • #1,867of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedCCND2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Cyclin D2 Overexpression Enhances the Efficacy of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Myocardial Repair in a Swine Model of Myocardial Infarction.
PMID: 33951921
Circulation Β· 2021
1.00
2
Widespread shortening of 3'UTRs by alternative cleavage and polyadenylation activates oncogenes in cancer cells.
PMID: 19703394
Cell Β· 2009
0.90
3
D-type cyclins.
PMID: 7610482
Trends Biochem Sci Β· 1995
0.80
4
Cyclin D1-negative mantle cell lymphoma.
PMID: 39571691
Hum Pathol Β· 2025
0.70
5
The PRC2.1 subcomplex opposes G1 progression through regulation of CCND1 and CCND2.
PMID: 39903505
Elife Β· 2025
0.68