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

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; AllianceGenome:HGNC:24116
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: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65717673..65720798, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65711831..65714956, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65485144..65488269, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutieres syndrome 3.
Title: RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
Title: Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
The anti-inflammatory molecular make-up of centenarian's fibroblasts (low levels of IL-6, type 1 interferon beta, and pro-inflammatory microRNAs), which is coupled with low level of DNA damage (measured by comet assay and histone-2AX activation) and preserved telomere length. In the same cells, high levels of the RNAseH2C enzyme subunit and low amounts of RNAseH2 substrates, i.e. cytoplasmic RNA:DNA hybrids are present.
Title: Genomic stability, anti-inflammatory phenotype, and up-regulation of the RNAseH2 in cells from centenarians.
Aicardi-Goutieres syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer.
Title: Aicardi-Goutières syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer.
This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2C in patients with Aicardi-Goutieres Syndrome.
Title: Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner.
Title: Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
Examination of the effect of several Aicardi-Goutieres Syndrome-related mutations in the C subunit of RNase H2.
Title: Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
Describes an RNASEH2C pseudogene that is located close to the SRY gene on chromosome Y.
Title: Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aicardi-Goutieres syndrome 3 MedGen: C1835916 OMIM: 610329 GeneReviews: Aicardi-Goutieres Syndrome	Compare labs

EBI GWAS Catalog

Description
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HTATIP_7974 (e-PCR)
- UniSTS:467722

IB3011 (e-PCR)
- UniSTS:46906

G59731 (e-PCR)
- UniSTS:137029

WI-17347 (e-PCR)
- UniSTS:80455

STS-U40989 (e-PCR)
- UniSTS:64845

RH99016 (e-PCR)
- UniSTS:86350

RH80901 (e-PCR)
- UniSTS:92019

HSC0AE062 (e-PCR)
- UniSTS:47861

RH18259 (e-PCR)
- UniSTS:56059

RH92615 (e-PCR)
- UniSTS:83964

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
involved_in RNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in mismatch repair	NAS Non-traceable Author Statement 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
part_of ribonuclease H2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonuclease H2 complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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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

NG_008976.2 RefSeqGene

Range

5001..8266

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_280

mRNA and Protein(s)

NM_032193.4 → NP_115569.2 ribonuclease H2 subunit C

Status: REVIEWED

Source sequence(s)

AP001266, BC000831, BC023588

Consensus CDS

CCDS8111.1

UniProtKB/Swiss-Prot

Q8TDP1, Q9H7F5

UniProtKB/TrEMBL

B4DMW4

Related

ENSP00000308193.5, ENST00000308418.10

Conserved Domains (1) summary

pfam08615
Location:28 → 157

RNase_H2_suC; Ribonuclease H2 non-catalytic subunit (Ylr154p-like)