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Protein

Ribonuclease H2 subunit B

Gene

RNASEH2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.2 Publications

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

BioCyciMetaCyc:HS13612-MONOMER
BRENDAi3.1.26.4 2681

Names & Taxonomyi

Protein namesi
Recommended name:
Ribonuclease H2 subunit B
Short name:
RNase H2 subunit B
Alternative name(s):
Aicardi-Goutieres syndrome 2 protein
Short name:
AGS2
Deleted in lymphocytic leukemia 8
Ribonuclease HI subunit B
Gene namesi
Name:RNASEH2B
Synonyms:DLEU8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000136104.18
HGNCiHGNC:25671 RNASEH2B
MIMi610326 gene
neXtProtiNX_Q5TBB1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aicardi-Goutieres syndrome 2 (AGS2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
See also OMIM:610181
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07061143P → H in AGS2. 1 PublicationCorresponds to variant dbSNP:rs79564863Ensembl.1
Natural variantiVAR_02728060L → R in AGS2; heterozygous compound with T-177. 2 PublicationsCorresponds to variant dbSNP:rs75325951Ensembl.1
Natural variantiVAR_07061273W → L in AGS2; reduces stability of the RNase complex. 2 PublicationsCorresponds to variant dbSNP:rs78071087Ensembl.1
Natural variantiVAR_07061383G → S in AGS2; reduces stability of the RNase complex. 2 PublicationsCorresponds to variant dbSNP:rs76158094Ensembl.1
Natural variantiVAR_02728186H → R in AGS2; heterozygous compound with T-177; reduces stability of the RNase complex. 3 PublicationsCorresponds to variant dbSNP:rs77931005Ensembl.1
Natural variantiVAR_070614138L → F in AGS2. 1 PublicationCorresponds to variant dbSNP:rs78705382EnsemblClinVar.1
Natural variantiVAR_070615159S → I in AGS2. 1 PublicationCorresponds to variant dbSNP:rs76219783Ensembl.1
Natural variantiVAR_027282162K → T in AGS2. 2 PublicationsCorresponds to variant dbSNP:rs75971463Ensembl.1
Natural variantiVAR_027283163T → I in AGS2; heterozygous compound with T-177. 2 PublicationsCorresponds to variant dbSNP:rs79310911Ensembl.1
Natural variantiVAR_027284177A → T in AGS2; frequent mutation. 2 PublicationsCorresponds to variant dbSNP:rs75184679EnsemblClinVar.1
Natural variantiVAR_070616183V → M in AGS2. 1 PublicationCorresponds to variant dbSNP:rs77377571Ensembl.1
Natural variantiVAR_027285185V → G in AGS2. 2 PublicationsCorresponds to variant dbSNP:rs74555752EnsemblClinVar.1
Natural variantiVAR_027286219Y → H in AGS2; heterozygous compound with a nonsense mutation; reduces stability of the RNase complex. 3 PublicationsCorresponds to variant dbSNP:rs77391331Ensembl.1
Natural variantiVAR_070617229S → P in AGS2. 1 PublicationCorresponds to variant dbSNP:rs768565639Ensembl.1

Keywords - Diseasei

Aicardi-Goutieres syndrome, Disease mutation

Organism-specific databases

DisGeNETi79621
GeneReviewsiRNASEH2B
MalaCardsiRNASEH2B
MIMi610181 phenotype
OpenTargetsiENSG00000136104
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA162401418

Polymorphism and mutation databases

BioMutaiRNASEH2B
DMDMi74745929

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002483782 – 312Ribonuclease H2 subunit BAdd BLAST311

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei295N6-acetyllysineCombined sources1
Modified residuei296PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ5TBB1
MaxQBiQ5TBB1
PaxDbiQ5TBB1
PeptideAtlasiQ5TBB1
PRIDEiQ5TBB1
ProteomicsDBi64894

PTM databases

iPTMnetiQ5TBB1
PhosphoSitePlusiQ5TBB1

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000136104 Expressed in 179 organ(s), highest expression level in heart
CleanExiHS_RNASEH2B
ExpressionAtlasiQ5TBB1 baseline and differential
GenevisibleiQ5TBB1 HS

Organism-specific databases

HPAiHPA040084
HPA041469

Interactioni

Subunit structurei

The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.1 Publication

Protein-protein interaction databases

BioGridi122751, 41 interactors
IntActiQ5TBB1, 31 interactors
STRINGi9606.ENSP00000337623

Structurei

Secondary structure

1312
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ5TBB1
SMRiQ5TBB1
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5TBB1

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase H2 subunit B family.Curated

Phylogenomic databases

eggNOGiKOG4705 Eukaryota
ENOG410YS7I LUCA
GeneTreeiENSGT00390000011439
HOVERGENiHBG056010
InParanoidiQ5TBB1
KOiK10744
OMAiRMACDIV
PhylomeDBiQ5TBB1
TreeFamiTF105250

Family and domain databases

CDDicd09270 RNase_H2-B, 1 hit
InterProiView protein in InterPro
IPR019024 RNase_H2_suB
PANTHERiPTHR13383 PTHR13383, 1 hit
PfamiView protein in Pfam
PF09468 RNase_H2-Ydr279, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 29 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5TBB1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAGVDCGDG VGARQHVFLV SEYLKDASKK MKNGLMFVKL VNPCSGEGAI
60 70 80 90 100
YLFNMCLQQL FEVKVFKEKH HSWFINQSVQ SGGLLHFATP VDPLFLLLHY
110 120 130 140 150
LIKADKEGKF QPLDQVVVDN VFPNCILLLK LPGLEKLLHH VTEEKGNPEI
160 170 180 190 200
DNKKYYKYSK EKTLKWLEKK VNQTVAALKT NNVNVSSRVQ STAFFSGDQA
210 220 230 240 250
STDKEEDYIR YAHGLISDYI PKELSDDLSK YLKLPEPSAS LPNPPSKKIK
260 270 280 290 300
LSDEPVEAKE DYTKFNTKDL KTEKKNSKMT AAQKALAKVD KSGMKSIDTF
310
FGVKNKKKIG KV
Length:312
Mass (Da):35,139
Last modified:April 12, 2005 - v1
Checksum:i98B1A8E073A50D68
GO
Isoform 2 (identifier: Q5TBB1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     248-257: KIKLSDEPVE → MAAQRQKRGK
     258-312: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:257
Mass (Da):29,005
Checksum:iD96DCA78CB52F6DF
GO

Computationally mapped potential isoform sequencesi

There are 29 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXR7A0A087WXR7_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
282Annotation score:
A0A087WZJ6A0A087WZJ6_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
289Annotation score:
A0A2R8Y883A0A2R8Y883_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
266Annotation score:
A0A1B0GUE7A0A1B0GUE7_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
89Annotation score:
A0A2R8Y6M7A0A2R8Y6M7_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
263Annotation score:
A0A2R8YEC1A0A2R8YEC1_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
227Annotation score:
A0A2R8YE60A0A2R8YE60_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
243Annotation score:
A0A2R8YEH2A0A2R8YEH2_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
324Annotation score:
A0A2R8Y4S2A0A2R8Y4S2_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
229Annotation score:
A0A2R8Y6Q6A0A2R8Y6Q6_HUMAN
Ribonuclease H2 subunit B
RNASEH2B
300Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAH01397 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH07332 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH10174 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti61F → L in AAX13343 (Ref. 1) Curated1
Sequence conflicti61F → L in BAB13892 (PubMed:14702039).Curated1
Sequence conflicti305N → K in AAH05088 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07061143P → H in AGS2. 1 PublicationCorresponds to variant dbSNP:rs79564863Ensembl.1
Natural variantiVAR_02728060L → R in AGS2; heterozygous compound with T-177. 2 PublicationsCorresponds to variant dbSNP:rs75325951Ensembl.1
Natural variantiVAR_07061273W → L in AGS2; reduces stability of the RNase complex. 2 PublicationsCorresponds to variant dbSNP:rs78071087Ensembl.1
Natural variantiVAR_07061383G → S in AGS2; reduces stability of the RNase complex. 2 PublicationsCorresponds to variant dbSNP:rs76158094Ensembl.1
Natural variantiVAR_02728186H → R in AGS2; heterozygous compound with T-177; reduces stability of the RNase complex. 3 PublicationsCorresponds to variant dbSNP:rs77931005Ensembl.1
Natural variantiVAR_070614138L → F in AGS2. 1 PublicationCorresponds to variant dbSNP:rs78705382EnsemblClinVar.1
Natural variantiVAR_070615159S → I in AGS2. 1 PublicationCorresponds to variant dbSNP:rs76219783Ensembl.1
Natural variantiVAR_027282162K → T in AGS2. 2 PublicationsCorresponds to variant dbSNP:rs75971463Ensembl.1
Natural variantiVAR_027283163T → I in AGS2; heterozygous compound with T-177. 2 PublicationsCorresponds to variant dbSNP:rs79310911Ensembl.1
Natural variantiVAR_027284177A → T in AGS2; frequent mutation. 2 PublicationsCorresponds to variant dbSNP:rs75184679EnsemblClinVar.1
Natural variantiVAR_070616183V → M in AGS2. 1 PublicationCorresponds to variant dbSNP:rs77377571Ensembl.1
Natural variantiVAR_027285185V → G in AGS2. 2 PublicationsCorresponds to variant dbSNP:rs74555752EnsemblClinVar.1
Natural variantiVAR_027286219Y → H in AGS2; heterozygous compound with a nonsense mutation; reduces stability of the RNase complex. 3 PublicationsCorresponds to variant dbSNP:rs77391331Ensembl.1
Natural variantiVAR_070617229S → P in AGS2. 1 PublicationCorresponds to variant dbSNP:rs768565639Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054039248 – 257KIKLSDEPVE → MAAQRQKRGK in isoform 2. Curated10
Alternative sequenceiVSP_054040258 – 312Missing in isoform 2. CuratedAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY764036 mRNA Translation: AAX13343.1
AK021774 mRNA Translation: BAB13892.1
AK223340 mRNA Translation: BAD97060.1
AL137881 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08864.1
BC001397 mRNA Translation: AAH01397.1 Sequence problems.
BC005088 mRNA Translation: AAH05088.1
BC007332 mRNA Translation: AAH07332.1 Sequence problems.
BC010174 mRNA Translation: AAH10174.1 Sequence problems.
CCDSiCCDS45047.1 [Q5TBB1-2]
CCDS9425.1 [Q5TBB1-1]
RefSeqiNP_001135751.1, NM_001142279.2 [Q5TBB1-2]
NP_078846.2, NM_024570.3 [Q5TBB1-1]
UniGeneiHs.306291

Genome annotation databases

EnsembliENST00000336617; ENSP00000337623; ENSG00000136104 [Q5TBB1-1]
ENST00000422660; ENSP00000389877; ENSG00000136104 [Q5TBB1-2]
GeneIDi79621
KEGGihsa:79621
UCSCiuc001vfa.4 human [Q5TBB1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY764036 mRNA Translation: AAX13343.1
AK021774 mRNA Translation: BAB13892.1
AK223340 mRNA Translation: BAD97060.1
AL137881 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08864.1
BC001397 mRNA Translation: AAH01397.1 Sequence problems.
BC005088 mRNA Translation: AAH05088.1
BC007332 mRNA Translation: AAH07332.1 Sequence problems.
BC010174 mRNA Translation: AAH10174.1 Sequence problems.
CCDSiCCDS45047.1 [Q5TBB1-2]
CCDS9425.1 [Q5TBB1-1]
RefSeqiNP_001135751.1, NM_001142279.2 [Q5TBB1-2]
NP_078846.2, NM_024570.3 [Q5TBB1-1]
UniGeneiHs.306291

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3P56X-ray4.06B/E2-226[»]
3P87X-ray2.99G/H/I/J/K/L290-312[»]
3PUFX-ray3.10B/E/H/K/N/Q14-233[»]
ProteinModelPortaliQ5TBB1
SMRiQ5TBB1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122751, 41 interactors
IntActiQ5TBB1, 31 interactors
STRINGi9606.ENSP00000337623

PTM databases

iPTMnetiQ5TBB1
PhosphoSitePlusiQ5TBB1

Polymorphism and mutation databases

BioMutaiRNASEH2B
DMDMi74745929

Proteomic databases

EPDiQ5TBB1
MaxQBiQ5TBB1
PaxDbiQ5TBB1
PeptideAtlasiQ5TBB1
PRIDEiQ5TBB1
ProteomicsDBi64894

Protocols and materials databases

DNASUi79621
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336617; ENSP00000337623; ENSG00000136104 [Q5TBB1-1]
ENST00000422660; ENSP00000389877; ENSG00000136104 [Q5TBB1-2]
GeneIDi79621
KEGGihsa:79621
UCSCiuc001vfa.4 human [Q5TBB1-1]

Organism-specific databases

CTDi79621
DisGeNETi79621
EuPathDBiHostDB:ENSG00000136104.18
GeneCardsiRNASEH2B
GeneReviewsiRNASEH2B
HGNCiHGNC:25671 RNASEH2B
HPAiHPA040084
HPA041469
MalaCardsiRNASEH2B
MIMi610181 phenotype
610326 gene
neXtProtiNX_Q5TBB1
OpenTargetsiENSG00000136104
Orphaneti51 Aicardi-Goutieres syndrome
PharmGKBiPA162401418
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4705 Eukaryota
ENOG410YS7I LUCA
GeneTreeiENSGT00390000011439
HOVERGENiHBG056010
InParanoidiQ5TBB1
KOiK10744
OMAiRMACDIV
PhylomeDBiQ5TBB1
TreeFamiTF105250

Enzyme and pathway databases

BioCyciMetaCyc:HS13612-MONOMER
BRENDAi3.1.26.4 2681

Miscellaneous databases

ChiTaRSiRNASEH2B human
EvolutionaryTraceiQ5TBB1
GenomeRNAii79621
PROiPR:Q5TBB1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136104 Expressed in 179 organ(s), highest expression level in heart
CleanExiHS_RNASEH2B
ExpressionAtlasiQ5TBB1 baseline and differential
GenevisibleiQ5TBB1 HS

Family and domain databases

CDDicd09270 RNase_H2-B, 1 hit
InterProiView protein in InterPro
IPR019024 RNase_H2_suB
PANTHERiPTHR13383 PTHR13383, 1 hit
PfamiView protein in Pfam
PF09468 RNase_H2-Ydr279, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRNH2B_HUMAN
AccessioniPrimary (citable) accession number: Q5TBB1
Secondary accession number(s): G3XAJ1
, Q05DR2, Q6PK48, Q9HAF7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: April 12, 2005
Last modified: November 7, 2018
This is version 120 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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