RNASEH2C

Protein identityUniProt · HPA

UniProt accession

Q8TDP1

Gene

RNASEH2C

Ensembl

ENSG00000172922

Chromosome

11

Canonical length

164 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

164 residues, UniProt reviewed canonical sequence.

>Q8TDP1|RNASEH2C
     1  MESGDEAAIE RHRVHLRSAT LRDAVPATLH LLPCEVAVDG PAPVGRFFTP AIRQGPEGLE
    61  VSFRGRCLRG EEVAVPPGLV GYVMVTEEKK VSMGKPDPLR DSGTDDQEEE PLERDFDRFI
   121  GATANFSRFT LWGLETIPGP DAKVRGALTW PSLAAAIHAQ VPED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNASEH2C can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

43 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNASEH2C.

Disease | AllUniProt

Conditions RNASEH2C is implicated in, by any mechanism.

• Aicardi-Goutieres syndrome 3 (AGS3) MIM:610329

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 414 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Aicardi-Goutieres syndrome 3
• Aicardi Goutieres syndrome
• Abnormality of the nervous system
• RNASEH2C-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.47

gnomAD pLI

0.01

gnomAD missense Z

-0.92

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mismatch repair
• RNA catabolic process

Cellular components

• nucleus
• ribonuclease H2 complex

Protein domainsUniProt · Pfam · InterPro

• Ribonuclease H2, subunit C
• Ribonuclease H2 subunit C
• Ribonuclease H2 non-catalytic subunit (Ylr154p-like)

KeywordsUniProt

• Acetylation
• Aicardi-Goutieres syndrome
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of RNASEH2C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNASEH2A
• RNASEH2B