Gene: RNASEH2A

Alternate names for this Gene: AGS4|JUNB|RNASEHI|RNHIA|RNHL|THSD8

Gene Summary: The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: ribonuclease H2 subunit A

Type of Gene: protein-coding

Gene: HOOK2

Alternate names for this Gene: HK2

Gene Summary: Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004].

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: hook microtubule tethering protein 2

Type of Gene: protein-coding

rs77103971 in RNASEH2A;HOOK2 gene and AICARDI-GOUTIERES SYNDROME PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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

PMID 23592335 2013 Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

PMID 21454563 2011 Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.

rs76857106 in RNASEH2A;HOOK2 gene and AICARDI-GOUTIERES SYNDROME 4 PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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.

rs4804732 in RNASEH2A;HOOK2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.