Gene: WRN

Alternate names for this Gene: RECQ3|RECQL2|RECQL3

Gene Summary: This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers.

Gene is located in Chromosome: 8

Location in Chromosome : 8p12

Description of this Gene: WRN RecQ like helicase

Type of Gene: protein-coding

rs41520844 in WRN gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1800389 in WRN gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10954779 in WRN gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs11574294 in WRN gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11574358 in WRN gene and Longevity PMID 25918517 2015 Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.

rs41520844 in WRN gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs113993961 in WRN gene and Werner Syndrome PMID 9225981 1997 Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population.

PMID 8602509 1996 Positional cloning of the Werner's syndrome gene.

PMID 10347997 1999 Prevalence of Werner's syndrome heterozygotes in Japan.

PMID 10543396 1999 Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.

PMID 16673358 2006 The spectrum of WRN mutations in Werner syndrome patients.

PMID 9012406 1997 Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.

PMID 15888165 2005 A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay.

PMID 25182132 2015 Clinical utility gene card for: Werner Syndrome--Update 2014.

PMID 8968742 1996 Homozygous and compound heterozygous mutations at the Werner syndrome locus.

PMID 25390333 2014 Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

PMID 16786514 2006 Werner syndrome and mutations of the WRN and LMNA genes in France.

PMID 22188495 2012 A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia.

PMID 20443122 2010 WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

PMID 18810497 2008 The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.