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RNASEH2C ribonuclease H2 subunit C [ Homo sapiens (human) ]

Gene ID: 84153, updated on 4-Jul-2020

Summary

Official Symbol
RNASEH2Cprovided by HGNC
Official Full Name
ribonuclease H2 subunit Cprovided by HGNC
Primary source
HGNC:HGNC:24116
See related
Ensembl:ENSG00000172922 MIM:610330
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
AGS3; AYP1
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. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 17.9), endometrium (RPKM 15.2) and 25 other tissues See more
Orthologs

Genomic context

See RNASEH2C in Genome Data Viewer
Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65717673..65720798, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65485144..65488409, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RELA divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 309, pseudogene Neighboring gene lysine acetyltransferase 5 Neighboring gene keratin 8 pseudogene 26 Neighboring gene adaptor related protein complex 5 subunit beta 1

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

Clone Names

  • FLJ20974, MGC22934

Gene Ontology Provided by GOA

Process Evidence Code Pubs
RNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
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 C
Names
RNase H1 small subunit
RNase H2 subunit C
aicardi-Goutieres syndrome 3 protein
ribonuclease HI subunit C

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_008976.2 RefSeqGene

    Range
    5001..8266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_280

mRNA and Protein(s)

  1. NM_032193.4NP_115569.2  ribonuclease H2 subunit C

    See identical proteins and their annotated locations for NP_115569.2

    Status: REVIEWED

    Source sequence(s)
    AP001266, BC000831, BC023588
    Consensus CDS
    CCDS8111.1
    UniProtKB/Swiss-Prot
    Q8TDP1
    UniProtKB/TrEMBL
    A0A024R5B3
    Related
    ENSP00000308193.4, ENST00000308418.9
    Conserved Domains (1) summary
    pfam08615
    Location:28157
    RNase_H2_suC; Ribonuclease H2 non-catalytic subunit (Ylr154p-like)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65717673..65720798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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