RNASEH2B

Protein identityUniProt · HPA

UniProt accession

Q5TBB1

Gene

RNASEH2B

Ensembl

ENSG00000136104

Chromosome

13

Canonical length

312 aa

Protein class

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

Subcellular location

Nucleoplasm

OverviewNCBI Gene

RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

312 residues, UniProt reviewed canonical sequence.

>Q5TBB1|RNASEH2B
     1  MAAGVDCGDG VGARQHVFLV SEYLKDASKK MKNGLMFVKL VNPCSGEGAI YLFNMCLQQL
    61  FEVKVFKEKH HSWFINQSVQ SGGLLHFATP VDPLFLLLHY LIKADKEGKF QPLDQVVVDN
   121  VFPNCILLLK LPGLEKLLHH VTEEKGNPEI DNKKYYKYSK EKTLKWLEKK VNQTVAALKT
   181  NNVNVSSRVQ STAFFSGDQA STDKEEDYIR YAHGLISDYI PKELSDDLSK YLKLPEPSAS
   241  LPNPPSKKIK LSDEPVEAKE DYTKFNTKDL KTEKKNSKMT AAQKALAKVD KSGMKSIDTF
   301  FGVKNKKKIG KV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RNASEH2B 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)

0.44

Highest tissue expression

123 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RNASEH2B.

Disease | AllUniProt

Conditions RNASEH2B is implicated in, by any mechanism.

• Aicardi-Goutieres syndrome 2 (AGS2) MIM:610181

Disease | GeneticClinVar

55 pathogenic / likely-pathogenic of 542 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Aicardi-Goutieres syndrome 2
• Aicardi Goutieres syndrome
• RNASEH2B-related disorder
• Hereditary spastic paraplegia
• Cerebral palsy

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)

1.25

gnomAD pLI

0

gnomAD missense Z

-0.24

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• fibroblast proliferation
• gene expression
• in utero embryonic development
• mismatch repair
• negative regulation of gene expression
• positive regulation of fibroblast proliferation
• regulation of DNA damage checkpoint
• regulation of G2/M transition of mitotic cell cycle
• RNA catabolic process
• ribonucleotide metabolic process

Cellular components

• nucleoplasm
• ribonuclease H2 complex

Protein domainsUniProt · Pfam · InterPro

• Ribonuclease H2 subunit B, wHTH domain
• Ribonuclease H2 subunit B
• Rnh202, triple barrel domain
• Ydr279p protein family (RNase H2 complex component) wHTH domain
• Ydr279p protein triple barrel domain

KeywordsUniProt

• Acetylation
• Aicardi-Goutieres syndrome
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of RNASEH2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNASEH2A
• RNASEH2C