HELQ Gene: Helicase, POLQ-Like
A key player in DNA repair, replication fork stability, and cancer susceptibility
Gene Information Card
| Symbol | HELQ |
|---|---|
| Full Name | Helicase, POLQ-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.23 |
| NCBI Gene ID | 113510 ncbi.nlm.nih.gov/gene/113510 |
| Ensembl ID | ENSG00000163359 |
| UniProt ID | Q8TDG4 |
| OMIM ID | 606769 |
| HGNC ID | 30022 |
| Aliases | HEL308, HELQ-1, FLJ21918 |
Description
HELQ (Helicase, POLQ-Like) encodes a DNA helicase belonging to the Ski2-like helicase family. It plays a critical role in DNA repair, particularly in homologous recombination and replication fork stability. HELQ interacts with the Fanconi anemia pathway and is involved in the repair of interstrand crosslinks. Loss-of-function mutations in HELQ are associated with increased susceptibility to ovarian cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Loss-of-function variants impair DNA repair, increasing genomic instability | Case-control studies, GWAS (PMID: 23535730) |
| Breast cancer | Defective HELQ may compromise homologous recombination | Association studies (PMID: 23535730) |
| Fanconi anemia-like phenotype | HELQ deficiency disrupts interstrand crosslink repair | Functional studies in model organisms (PMID: 23535730) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 8.2 | Medium |
| Bone marrow | 6.1 | Low |
| Lymph node | 5.4 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 6.5 | Lung cancer cell line |
| HEK293 | 5.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2560C>T (p.Arg854*) | Nonsense | Rare | Loss of function, truncated protein |
| c.2152G>A (p.Gly718Arg) | Missense | Rare | Reduced helicase activity |
| c.1460_1461del (p.Glu487fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing DNA repair and increasing cancer risk.
Gain of Function (GOF)
Not reported for HELQ.
Dominant Negative (DN)
Not reported for HELQ.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • DNA repair | • homologous recombination |
| • replication fork processing | • interstrand crosslink repair |
Pathways
• Fanconi anemia pathway
• Homologous recombination repair
• DNA damage response
Protein Summary
HELQ is a 1101-amino acid DNA helicase that unwinds DNA in the 3' to 5' direction. It contains a conserved helicase domain and is essential for maintaining genome stability by facilitating replication fork progression and repair of DNA interstrand crosslinks. HELQ interacts with FANCD2 and other Fanconi anemia proteins, linking it to the cellular response to replication stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HELQ Knockout HEK293 Cell Line | EDJ-KQ3883 | Human | 113510 | Details Get a Quote |
| HELQ Knockout A-549 Cell Line | EDJ-KQ26094 | Human | 113510 | Details Get a Quote |
| HELQ Knockout HCT 116 Cell Line | EDJ-KQ26095 | Human | 113510 | Details Get a Quote |
| HELQ Knockout HeLa Cell Line | EDJ-KQ26096 | Human | 113510 | Details Get a Quote |
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