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Gene: RNASEH2A (ribonuclease H2 subunit A) Homo sapiens
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Symbol: RNASEH2A
Name: ribonuclease H2 subunit A
Description: 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.[provided by RefSeq, Aug 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGS4; aicardi-Goutieres syndrome 4 protein; JUNB; ribonuclease H2, large subunit; ribonuclease H2, subunit A; ribonuclease HI large subunit; ribonuclease HI subunit A; ribonuclease HI, large subunit; RNase H(35); RNase H2 subunit A; RNase HI large subunit; RNASEHI; RNHIA; RNHL; THSD8
Orthologs:
Mus musculus (house mouse) : Rnaseh2a (ribonuclease H2, large subunit)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rnaseh2a (ribonuclease H2, subunit A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rnaseh2a (ribonuclease H2 subunit A)
Pan paniscus (bonobo/pygmy chimpanzee) : RNASEH2A (ribonuclease H2 subunit A)
Canis lupus familiaris (dog) : RNASEH2A (ribonuclease H2 subunit A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rnaseh2a (ribonuclease H2 subunit A)
Sus scrofa (pig) : RNASEH2A (ribonuclease H2 subunit A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,802,054 - 12,813,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,912,863 - 12,924,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,778,428 - 12,785,462 (+)NCBINCBI36hg18NCBI36
Build 341912,778,427 - 12,785,462NCBI
Celera1912,807,135 - 12,814,169 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,489,074 - 12,496,108 (+)NCBIHuRef
CHM1_11912,917,906 - 12,924,940 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RNASEH2A
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1316328
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.