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RNASEH2A ribonuclease H2 subunit A [ Homo sapiens (human) ]

Gene ID: 10535, updated on 4-Oct-2020

Summary

Official Symbol
RNASEH2Aprovided by HGNC
Official Full Name
ribonuclease H2 subunit Aprovided by HGNC
Primary source
HGNC:HGNC:18518
See related
Ensembl:ENSG00000104889 MIM:606034
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGS4; JUNB; RNHL; RNHIA; THSD8; RNASEHI
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.[provided by RefSeq, Aug 2009]
Expression
Ubiquitous expression in bone marrow (RPKM 7.3), testis (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See RNASEH2A in Genome Data Viewer
Location:
19p13.13
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12806584..12813640)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12912863..12924462)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene JunB proto-oncogene, AP-1 transcription factor subunit Neighboring gene peroxiredoxin 2 Neighboring gene CRISPRi-FlowFISH-validated RNASEH2A regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene uncharacterized LOC105372281 Neighboring gene retbindin Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA-DNA hybrid ribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA-DNA hybrid ribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
ribonuclease activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA replication TAS
Traceable Author Statement
more info
PubMed 
DNA replication, removal of RNA primer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
ribonuclease H2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonuclease H2 complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ribonuclease H2 subunit A
Names
RNase H(35)
RNase H2 subunit A
RNase HI large subunit
aicardi-Goutieres syndrome 4 protein
ribonuclease H2, large subunit
ribonuclease HI large subunit
ribonuclease HI subunit A
NP_006388.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012662.1 RefSeqGene

    Range
    5001..12035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_278

mRNA and Protein(s)

  1. NM_006397.3NP_006388.2  ribonuclease H2 subunit A

    See identical proteins and their annotated locations for NP_006388.2

    Status: REVIEWED

    Source sequence(s)
    AK315327, AY363912, BM664190
    Consensus CDS
    CCDS12282.1
    UniProtKB/Swiss-Prot
    O75792
    Related
    ENSP00000221486.3, ENST00000221486.5
    Conserved Domains (1) summary
    cd07181
    Location:31250
    RNase_HII_eukaryota_like; Eukaryotic RNase HII

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12806584..12813640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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