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.
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.
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.
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.
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.
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).
First described 1998. Earliest sequence paper UniProt cites for the protein: Kitao et al, Genomics, 1998, "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes". Source.
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)
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).
Query 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.
Shares Osteosarcoma, Skin cancer (all types), IntOGen, Gastric & gastro-oesophageal junction cancer.
Shares Osteosarcoma, Ovarian cancer, Breast cancer (all types), Open Targets Platform.
Shares Osteosarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.
Shares Osteosarcoma, IntOGen, Open Targets Platform.