{"entity":{"id":"amer1","kind":"target","name":"AMER1","aka":["APC membrane recruitment protein 1","RP11-403E24.2","FLJ39827","FAM123B"],"tldr":"AMER1 (APC membrane recruitment protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Skin cancer, Leukaemia and 3 more.","summary":"Regulator of the canonical Wnt signalling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signalling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signalling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.92, literature 0.90, genetic association 0.77, somatic mutation 0.97, animal model 0.41). IntOGen calls it a driver in 9 cohorts (0 activating, 9 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma, Rectal Adenocarcinoma, Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26837","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26837"},{"label":"UniProt Q5JTC6","url":"https://www.uniprot.org/uniprotkb/Q5JTC6/entry"},{"label":"NCBI Gene 139285","url":"https://www.ncbi.nlm.nih.gov/gene/139285"},{"label":"Ensembl ENSG00000184675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184675"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","skin-cancer","leukaemia","rectal-cancer","wilms-tumor","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 9 cohorts. Evidence tier \"cohort-driver\" 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":"AMER1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:26837","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26837","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5JTC6","url":"https://www.uniprot.org/uniprotkb/Q5JTC6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184675","url":"https://platform.opentargets.org/target/ENSG00000184675/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.75, melanoma 0.54, skin cancer 0.56, leukaemia 0.50 (GraphQL API, CC0)"},{"label":"IntOGen AMER1","url":"https://www.intogen.org/search?gene=AMER1","note":"driver in 9 cohorts (Act 0, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:26837","ensembl":"ENSG00000184675","uniprot":"Q5JTC6","entrez":"139285","biology":"Regulator of the canonical Wnt signalling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signalling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signalling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilisation of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. Location: Cytoplasm; Cell membrane; Nucleus (UniProt). Locus Xq11.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.75 with colorectal cancer (MONDO_0005575); IntOGen driver in 7 cohorts (COAD, COADREAD)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.50 with leukaemia (MONDO_0005059)","Rectal cancer: IntOGen driver in 1 cohort (READ)","Wilms tumour: IntOGen driver in 1 cohort (WT)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/amer1/","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":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"rectal-cancer","kind":"cancer","name":"Rectal cancer","route":"/cancers/rectal-cancer/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"},{"id":"wilms-tumor","kind":"cancer","name":"Wilms tumour (nephroblastoma)","route":"/cancers/wilms-tumor/"}]}}