Gene: RNASEH2C

Alternate names for this Gene: AGS3|AYP1

Gene Summary: This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: ribonuclease H2 subunit C

Type of Gene: protein-coding

Gene: KAT5

Alternate names for this Gene: ESA1|HTATIP|HTATIP1|PLIP|TIP|TIP60|ZC2HC5|cPLA2

Gene Summary: The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: lysine acetyltransferase 5

Type of Gene: protein-coding

rs78464826 in RNASEH2C;KAT5 gene and AICARDI-GOUTIERES SYNDROME 3 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

rs4645933 in RNASEH2C;KAT5 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs4645933 in RNASEH2C;KAT5 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs4645915 in RNASEH2C;KAT5 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4645915 in RNASEH2C;KAT5 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs75601653 in RNASEH2C;KAT5 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.