RECQL4
RECQL4 (ATP-dependent DNA helicase Q4) 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 Sarcomas, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.
Overview
An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation.
Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.76, literature 0.98, genetic association 0.86, somatic mutation 0.84, animal model 0.47). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · RECQL4 (ATP-dependent DNA helicase Q4) 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 Sarcomas, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.
- 1 · What it is
RECQL4 (ATP-dependent DNA helicase Q4) 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 Sarcomas, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.
- 2 · What goes wrong in cancer
An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA.
- 3 · How drugs use it
No product in this corpus aims at RECQL4 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:9949 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O94761 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000160957 (association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.56, ovarian cancer 0.52, sarcoma 0.61, skin cancer 0.52, osteosarcoma 0.58 (GraphQL API, CC0)); IntOGen RECQL4 (driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA. The core helicase domain binds ssDNA. Location: Cytoplasm; Nucleus (UniProt). Locus 8q24.3 (HGNC).
- Sarcomas: Open Targets association 0.61 with sarcoma (MONDO_0005089)
- Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)
- Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)
- Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)
- Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)
- Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)
Notes
top- 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. Evidence tier "cohort-driver" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"RECQL4" OR ABSTRACT:"RECQL4" OR TITLE:"RecQ like helicase 4" OR ABSTRACT:"RecQ like helicase 4" OR TITLE:"ATP-dependent DNA helicase Q4" OR ABSTRACT:"ATP-dependent DNA helicase Q4" OR TITLE:"RecQ4" OR ABSTRACT:"RecQ4") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about RECQL4, not a curated reading list.
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