{"entity":{"id":"ccnd2","kind":"target","name":"CCND2","aka":["cyclin D2","G1/S-specific cyclin-D2"],"tldr":"CCND2 (G1/S-specific cyclin-D2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Skin cancer and 4 more.","summary":"Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 3 variants, naming Palbociclib. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.69, genetic association 0.60, somatic mutation 0.85). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Acute Myeloid Leukaemia, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1583"},{"label":"UniProt P30279","url":"https://www.uniprot.org/uniprotkb/P30279/entry"},{"label":"NCBI Gene 894","url":"https://www.ncbi.nlm.nih.gov/gene/894"},{"label":"Ensembl ENSG00000118971","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118971"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["gastric","colorectal","skin-cancer","nsclc","cll","aml","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCND2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1583","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30279","url":"https://www.uniprot.org/uniprotkb/P30279/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND2","url":"https://civicdb.org/features/9","note":"7 evidence items, 0 assertions, 3 variants; diseases: Stomach Cancer, Lung Squamous Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000118971","url":"https://platform.opentargets.org/target/ENSG00000118971/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.59, melanoma 0.56, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen CCND2","url":"https://www.intogen.org/search?gene=CCND2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CCND2: RNA tissue enhanced (heart muscle 28 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Skin cancer (all types), Lung cancer (all types), Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P30279","url":"https://www.uniprot.org/uniprotkb/P30279/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND2","url":"https://civicdb.org/features/9","note":"7 evidence items, 0 assertions, 3 variants; diseases: Stomach Cancer, Lung Squamous Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"IntOGen CCND2","url":"https://www.intogen.org/search?gene=CCND2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CCND2 tissue","url":"https://www.proteinatlas.org/ENSG00000118971-CCND2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118971 associations","url":"https://platform.opentargets.org/target/ENSG00000118971/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1583","ensembl":"ENSG00000118971","uniprot":"P30279","entrez":"894","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xiong et al, Genomics, 1992, \"Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1386336/","biology":"Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Location: Nucleus; Cytoplasm; Nucleus membrane (UniProt). Locus 12p13.32 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Non-small-cell lung cancer: CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/ccnd2/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"cll","kind":"cancer","name":"Chronic lymphocytic leukaemia","route":"/cancers/cll/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}