{"entity":{"id":"cacna1d","kind":"target","name":"CACNA1D","aka":["calcium voltage-gated channel subunit alpha1 D","Voltage-dependent L-type calcium channel subunit alpha-1D","Cav1.3","CACH3","CACN4","CCHL1A2","CACNL1A2"],"tldr":"CACNA1D (Voltage-dependent L-type calcium channel subunit alpha-1D) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Skin cancer, Gastric & gastro-oesophageal junction cancer and 5 more.","summary":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes clinical 0.62, literature 0.66, genetic association 0.00, somatic mutation 0.83, animal model 0.39). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Hepatocellular Carcinoma, Sarcoma, NOS, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1391"},{"label":"UniProt Q01668","url":"https://www.uniprot.org/uniprotkb/Q01668/entry"},{"label":"NCBI Gene 776","url":"https://www.ncbi.nlm.nih.gov/gene/776"},{"label":"Ensembl ENSG00000157388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157388"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","gastric","rcc","hcc","sarcoma","lung-cancer","colorectal"],"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: Open Targets known-drug datatype score 0.62; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. 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":"CACNA1D","role":["drug-target","oncogene-driver","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1391","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01668","url":"https://www.uniprot.org/uniprotkb/Q01668/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000157388","url":"https://platform.opentargets.org/target/ENSG00000157388/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.53, prostate cancer 0.52, melanoma 0.52, skin cancer 0.57, breast cancer 0.62 (GraphQL API, CC0)"},{"label":"IntOGen CACNA1D","url":"https://www.intogen.org/search?gene=CACNA1D","note":"driver in 5 cohorts (Act 3, 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 CACNA1D: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 4 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (6 of 10 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Skin cancer (all types), Gastric & gastro-oesophageal junction cancer, Renal cell carcinoma, Hepatocellular carcinoma, Sarcomas (soft tissue, bone, GIST), Lung cancer (all types) and more); 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 Q01668","url":"https://www.uniprot.org/uniprotkb/Q01668/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CACNA1D","url":"https://www.intogen.org/search?gene=CACNA1D","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CACNA1D tissue","url":"https://www.proteinatlas.org/ENSG00000157388-CACNA1D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157388 associations","url":"https://platform.opentargets.org/target/ENSG00000157388/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1391","ensembl":"ENSG00000157388","uniprot":"Q01668","entrez":"776","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Williams M.E. et al, Neuron, 1992, \"Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1309651/","biology":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Location: Membrane (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.53 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Sarcomas: IntOGen driver in 1 cohort (SARCNOS)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/cacna1d/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}