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

    Gene ID: 84153, updated on 4-Jul-2021

    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
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    Genomic context

    See RNASEH2C in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65717673..65720798, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65485144..65488269, 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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ribonuclease H2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of 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)

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    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
      ENSP00000308193.5, ENST00000308418.10
      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 109.20210514

    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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