RECQL4 Gene
RecQ Like Helicase 4: Role in DNA Repair, Replication, and Genetic Disorders
Gene Information Card
| Symbol | RECQL4 |
|---|---|
| Full Name | RecQ Like Helicase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 9401 ncbi.nlm.nih.gov/gene/9401 |
| Ensembl ID | ENSG00000160957 |
| UniProt ID | O94761 |
| OMIM ID | 603780 |
| HGNC ID | 9949 |
| Aliases | RECQ4, RTS, RAPADILINO, Baller-Gerold syndrome |
Description
RECQL4 encodes a member of the RecQ family of DNA helicases, which are essential for maintaining genomic stability. The protein is involved in DNA replication, repair, and telomere maintenance. Mutations in RECQL4 are associated with several autosomal recessive disorders characterized by developmental abnormalities, premature aging, and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rothmund-Thomson syndrome | Loss-of-function mutations impair DNA repair and replication, leading to poikiloderma, skeletal abnormalities, and predisposition to osteosarcoma | ClinVar, OMIM |
| RAPADILINO syndrome | Biallelic mutations causing reduced helicase activity result in radial ray defects, patellar hypoplasia, and cleft palate | OMIM, NCBI |
| Baller-Gerold syndrome | Mutations disrupt helicase function, causing craniosynostosis, radial aplasia, and growth retardation | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Skin | 6.1 | Low |
| Lung | 5.4 | Low |
| Brain | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 6.5 | Breast 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.1573delT | Frameshift | Rare | Loss of function; associated with Rothmund-Thomson syndrome |
| c.2269C>T (p.Arg757*) | Nonsense | Rare | Premature stop; loss of function; linked to RAPADILINO syndrome |
| c.2881C>T (p.Arg961Trp) | Missense | Rare | Impaired helicase activity; Baller-Gerold syndrome |
Mutation functional classification
Loss of Function (LOF)
Most RECQL4 mutations are loss-of-function, leading to reduced helicase activity and genomic instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • DNA replication | • DNA repair |
| • telomere maintenance | • chromosome segregation |
Pathways
• Homologous recombination
• DNA replication
• Telomere maintenance
Protein Summary
RECQL4 is a 1208-amino acid DNA helicase with a conserved helicase domain. It unwinds DNA duplexes in the 3' to 5' direction and interacts with replication and repair proteins. The protein localizes to the nucleus and is critical for maintaining genome integrity during replication stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RECQL4 Knockout HEK293 Cell Line | EDJ-KQ5913 | Human | 9401 | Details Get a Quote |
| RECQL4 Knockout A-549 Cell Line | EDJ-KQ30784 | Human | 9401 | Details Get a Quote |
| RECQL4 Knockout HCT 116 Cell Line | EDJ-KQ30786 | Human | 9401 | Details Get a Quote |
| RECQL4 Knockout HeLa Cell Line | EDJ-KQ30787 | Human | 9401 | Details Get a Quote |
| RECQL4 (p.R1005Q) Point Mutation in HAP1 Cell Line | EDC03372 | Human | 9401 | Details Get a Quote |
| RECQL4 (p.E267D) Point Mutation in HAP1 Cell Line | EDC03376 | Human | 9401 | Details Get a Quote |
| RECQL4 (p.S246=) Point Mutation in HAP1 Cell Line | EDC03377 | Human | 9401 | Details Get a Quote |
| RECQL4 (p.S92P) Point Mutation in HAP1 Cell Line | EDC03378 | Human | 9401 | Details Get a Quote |
| RECQL4 (p.E44=) Point Mutation in HAP1 Cell Line | EDC03379 | Human | 9401 | Details Get a Quote |
| RECQL4 (c.3393+8C>T )Point Mutation in HAP1 Cell Line | EDC03370 | Human | 9401 | Details Get a Quote |
| RECQL4 (c.3236+13C>T )Point Mutation in HAP1 Cell Line | EDC03371 | Human | 9401 | Details Get a Quote |
| RECQL4 (c.2299del )Point Mutation in HAP1 Cell Line | EDC03373 | Human | 9401 | Details Get a Quote |
| RECQL4 (c.2297G>A )Point Mutation in HAP1 Cell Line | EDC03374 | Human | 9401 | Details Get a Quote |
| RECQL4 (c.1258+18G>A )Point Mutation in HAP1 Cell Line | EDC03375 | Human | 9401 | Details Get a Quote |
Displaying Records 1 To 14 Of 14 Records
