{"entity":{"id":"cdx2","kind":"target","name":"CDX2","aka":["caudal type homeobox 2","Homeobox protein CDX-2","CDX3"],"tldr":"CDX2 (Homeobox protein CDX-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Oesophageal cancer, Skin cancer and 3 more.","summary":"Transcription factor which regulates the transcription of multiple genes expressed in the intestinal epithelium. Binds to the promoter of the intestinal sucrase-isomaltase SI and activates SI transcription. Binds to the DNA sequence 5'-ATAAAAACTTAT-3' in the promoter region of VDR and activates VDR transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.33, animal model 0.66, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1806"},{"label":"UniProt Q99626","url":"https://www.uniprot.org/uniprotkb/Q99626/entry"},{"label":"NCBI Gene 1045","url":"https://www.ncbi.nlm.nih.gov/gene/1045"},{"label":"Ensembl ENSG00000165556","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165556"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","esophageal","skin-cancer","lung-cancer","oesophageal-adenocarcinoma","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: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 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":"CDX2","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1806","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99626","url":"https://www.uniprot.org/uniprotkb/Q99626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDX2","url":"https://civicdb.org/features/927","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000165556","url":"https://platform.opentargets.org/target/ENSG00000165556/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: melanoma 0.53, skin cancer 0.53, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CDX2","url":"https://www.intogen.org/search?gene=CDX2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); 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 CDX2: RNA tissue enriched (intestine 45 nTPM); high antibody staining in 4 normal tissues; highest cancer staining colorectal cancer (7 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Oesophageal cancer, Skin cancer (all types), Lung cancer (all types)); 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 Q99626","url":"https://www.uniprot.org/uniprotkb/Q99626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDX2","url":"https://civicdb.org/features/927","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"IntOGen CDX2","url":"https://www.intogen.org/search?gene=CDX2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CDX2 tissue","url":"https://www.proteinatlas.org/ENSG00000165556-CDX2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165556 associations","url":"https://platform.opentargets.org/target/ENSG00000165556/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1806","ensembl":"ENSG00000165556","uniprot":"Q99626","entrez":"1045","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Inamori et al, Biochem. Biophys. Res. Commun, 1993, \"Identification of homeobox genes expressed in human T-lymphocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8105782/","biology":"Transcription factor which regulates the transcription of multiple genes expressed in the intestinal epithelium. Binds to the promoter of the intestinal sucrase-isomaltase SI and activates SI transcription. Binds to the DNA sequence 5'-ATAAAAACTTAT-3' in the promoter region of VDR and activates VDR transcription. Binds to and activates transcription of LPH. Activates transcription of CLDN2 and intestinal mucin MUC2. Binds to the 5'-AATTTTTTACAACACCT-3' DNA sequence in the promoter region of CA1 and activates CA1 transcription. Location: Nucleus (UniProt). Locus 13q12.2 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)","Melanoma: Open Targets association 0.53 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/cdx2/","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":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"oesophageal-adenocarcinoma","kind":"cancer","name":"Oesophageal and junctional adenocarcinoma","route":"/cancers/oesophageal-adenocarcinoma/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}