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Gene

RNASEH2B

ribonuclease H2 subunit B

Summary

Cytogenetic location
13q14.3
Coordinates
Chromosome 13: 50,909,791–50,956,762 (GRCh38)
Exons
11 exons across 47 kb
Protein
312 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
FLJ11712
Previous symbols
DLEU8, AGS2
MANE Select transcript
ENST00000336617.8NM_024570.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Aicardi-Goutieres Syndrome

    • RNASEH2B-related type 1 interferonopathyAutosomal recessive

      RNASEH2B variants, the most common cause of Aicardi-Goutieres syndrome.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Autosomal recessive

      Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

      • 4 GenCC submitters rate it definitive or strong

  • Rare Monogenic Autoinflammatory Diseases

    • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

      Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 4 GenCC submitters rate it definitive or strong

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RNASEH2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where RNASEH2B sits. RNASEH2B and 5 genes near it on chromosome 13, from 50,433,277 to 51,433,276.Chromosome 1313q14.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3450.6 Mb50.8 Mb51 Mb51.2 Mb51.4 MbDLEU7: 50,519,364–50,843,939, reverse strandDLEU7RNASEH2B: 50,909,791–50,956,762, forward strandRNASEH2BC13orf42: 51,082,119–51,200,252, reverse strandC13orf42FAM124A: 51,221,944–51,284,241, forward strandFAM124ASERPINE3: 51,335,773–51,364,735, forward strandSERPINE3INTS6: 51,354,077–51,454,264, reverse strandINTS6Diagram of RNASEH2B: 11 exons on the forward strand of chromosome 13Exon 1: 4 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 1: 50,909,791–50,910,140, 350 basesExon 2: 50,927,407–50,927,478, 72 basesExon 3: 50,929,475–50,929,582, 108 basesExon 4: 50,930,683–50,930,759, 77 basesExon 5: 50,934,885–50,934,999, 115 basesExon 6: 50,943,321–50,943,394, 74 basesExon 7: 50,945,427–50,945,532, 106 basesExon 8: 50,947,987–50,948,068, 82 basesExon 9: 50,949,463–50,949,505, 43 basesExon 10: 50,953,905–50,953,985, 81 basesExon 11: 50,956,358–50,956,762, 405 bases12345678910115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.5 kb of the gene's 47 kb; 939 of those bases code for the protein.

How a genome test reads RNASEH2B

57

positions in RNASEH2B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 47 kb of RNASEH2B, introns included, not only the 1.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RNASEH2B gene: ribonuclease H2 subunit B. Retrieved 17 October 2026, from https://dantelabs.com/genes/rnaseh2b

Vancouver

Dante Labs. RNASEH2B gene: ribonuclease H2 subunit B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rnaseh2b

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