WRN Gene (WRN RecQ Like Helicase)
Key Gene in Werner Syndrome and DNA Repair
Gene Information Card
| Symbol | WRN |
|---|---|
| Full Name | WRN RecQ Like Helicase |
| Gene Type | Protein coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 7486 ncbi.nlm.nih.gov/gene/7486 |
| Ensembl ID | ENSG00000165392 |
| UniProt ID | Q14191 |
| OMIM ID | 604611 |
| HGNC ID | 12791 |
| Aliases | RECQL2, RECQ3, Werner syndrome, RecQ protein-like 2 |
Description
The WRN gene encodes a member of the RecQ family of DNA helicases, which are essential for maintaining genomic stability. The WRN protein possesses both 3'->5' DNA helicase and 3'->5' exonuclease activities, playing critical roles in DNA replication, repair, recombination, and telomere maintenance. Loss-of-function mutations in WRN cause Werner syndrome, a rare autosomal recessive disorder characterized by premature aging and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Werner Syndrome | Loss-of-function mutations in WRN lead to defective DNA repair and telomere dysfunction, causing premature aging phenotypes. | OMIM #277700; ClinVar |
| Colorectal Cancer | Somatic WRN mutations and epigenetic silencing contribute to genomic instability in colorectal tumors. | COSMIC; NCBI |
| Soft Tissue Sarcoma | WRN mutations are recurrent in some sarcoma subtypes, associated with microsatellite instability. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone Marrow | 8.7 | Medium |
| Lymph Node | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HCT116 | 8.2 | Colorectal carcinoma |
| MCF7 | 7.1 | Breast cancer cells |
| K562 | 6.4 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1105C>T (p.Arg369*) | Nonsense | Rare | Loss of helicase domain; Werner syndrome |
| c.1336C>T (p.Arg446*) | Nonsense | Rare | Premature termination; Werner syndrome |
| c.3139-1G>C | Splice site | Rare | Exon skipping; Werner syndrome |
| c.4147C>T (p.Arg1383Trp) | Missense | Rare | Impaired helicase activity; Werner syndrome |
Mutation functional classification
Loss of Function (LOF)
Most WRN mutations are loss-of-function, leading to truncated or unstable protein, defective DNA repair, and genomic instability.
Gain of Function (GOF)
No gain-of-function mutations are reported for WRN.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type WRN function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination (Reactome R-HSA-5695949)
• Telomere maintenance (Reactome R-HSA-157579)
• DNA double-strand break repair (KEGG hsa03440)
• Werner syndrome pathway (KEGG hsa05022)
Protein Summary
The WRN protein (1432 amino acids) is a multifunctional nuclear protein with an N-terminal exonuclease domain, a central RecQ helicase domain, and a C-terminal RQC (RecQ C-terminal) domain. It interacts with multiple DNA repair proteins including Ku70/80, PARP1, and PCNA. WRN is essential for resolving stalled replication forks and maintaining telomere integrity. Its deficiency leads to accelerated cellular senescence and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WRN Knockout HEK293 Cell Line | EDJ-KQ2857 | Human | 7486 | Details Get a Quote |
| WRNIP1 Knockout HEK293 Cell Line | EDJ-KQ11895 | Human | 56897 | Details Get a Quote |
| WRNIP1 Knockout HeLa Cell Line | EDJ-KQ39111 | Human | 56897 | Details Get a Quote |
| WRN Knockout A-549 Cell Line | EDJ-KQ23874 | Human | 7486 | Details Get a Quote |
| WRN Knockout HCT 116 Cell Line | EDJ-KQ23875 | Human | 7486 | Details Get a Quote |
| WRN Knockout HeLa Cell Line | EDJ-KQ23876 | Human | 7486 | Details Get a Quote |
| WRNIP1 Knockout A-549 Cell Line | EDJ-KQ40350 | Human | 56897 | Details Get a Quote |
| WRNIP1 Knockout HCT 116 Cell Line | EDJ-KQ40351 | Human | 56897 | Details Get a Quote |
| WRN (p.M387I) Point Mutation in HAP1 Cell Line | EDC03380 | Human | 7486 | Details Get a Quote |
| WRN (p.L787=) Point Mutation in HAP1 Cell Line | EDC03381 | Human | 7486 | Details Get a Quote |
| WRN (p.L1074F) Point Mutation in HAP1 Cell Line | EDC03384 | Human | 7486 | Details Get a Quote |
| WRN (p.L1246=) Point Mutation in HAP1 Cell Line | EDC03385 | Human | 7486 | Details Get a Quote |
| WRN (p.C1367R) Point Mutation in HAP1 Cell Line | EDC03386 | Human | 7486 | Details Get a Quote |
| WRN (c.2967+88G>A )Point Mutation in HAP1 Cell Line | EDC03382 | Human | 7486 | Details Get a Quote |
| WRN (c.3138+7G>A )Point Mutation in HAP1 Cell Line | EDC03383 | Human | 7486 | Details Get a Quote |
Displaying Records 1 To 15 Of 15 Records
