Ribonuclease H2, Subunit B

Alternative Names

  • RNASEH2B
  • DLEU8
  • FLJ11712
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OMIM Number

610326

NCBI Gene ID

79621

Uniprot ID

Q5TBB1

Length

114,443 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Ribonuclease H2 subunit B

Molecular Mass

35139 Da

Amino Acid Count

312

Genomic Location

chr13:50,909,678-51,024,120

Gene Map Locus
13q14.3

Description

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). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001142279.2:c.356A>GArabNC_000013.11:g.50934919A>GLikely PathogenicLikely PathogenicAicardiI-Goutieres Syndrome 2NG_009055.1:g.30164A>G; NM_001142279.2:c.356A>G; NP_001135751.1:p.Asp119Gly786205483191042
NM_001142279.2:c.554T>GArabNC_000013.11:g.50945470T>GLikely Pathogenic, PathogenicLikely PathogenicAicardiI-Goutieres Syndrome 2NG_009055.1:g.40715T>G; NM_001142279.2:c.554T>G; NP_001135751.1:p.Val185Gly745557521263
NM_024570.3:c.529G>AArab; LebanonNC_000013.11:g.50945445G>ALikely Pathogenic, PathogenicLikely Pathogenic, PathogenicAicardiI-Goutieres Syndrome 2NG_009055.1:g.40690G>A; NM_024570.3:c.529G>A; NP_078846.2:p.Ala177Thr751846791262
NM_024570.4:c.239A>GLebanonLikely PathogenicLikely PathogenicAicardiI-Goutieres Syndrome 2NG_009055.1:g.24822A>G; NM_024570.4:c.239A>G; NP_078846.2:p.Gln80Arg1036017
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