RNASEH2B
entrez
79621
canonical
uniprot
Q5TBB1
canonical
ensembl
ENSG00000136104
resolver
ensp
ENSP00000337623
resolver
ensp
ENSP00000389877
resolver
ensp
ENSP00000481236
resolver
ensp
ENSP00000490077
resolver
ensp
ENSP00000495278
resolver
ensp
ENSP00000495302
resolver
ensp
ENSP00000496293
resolver
ensp
ENSP00000496571
resolver
ensp
ENSP00000519261
resolver
ensp
ENSP00000519267
resolver
ensp
ENSP00000643726
resolver
enst
ENST00000611510
resolver
enst
ENST00000637648
resolver
enst
ENST00000645990
resolver
enst
ENST00000646709
resolver
enst
ENST00000713976
resolver
genesymbol
RNASEH2B
resolver
genesymbol_syn
DLEU8
resolver
hgnc
HGNC:25671
resolver
uniprot
A0A087WXR7
resolver
uniprot
A0A1B0GUE7
resolver
uniprot
A0A2R8Y883
resolver
uniprot
G3XAJ1
resolver
uniprot
Q05DR2
resolver
uniprot
Q6PK48
resolver
uniprot
Q8N451
resolver
uniprot
Q9HAF7
resolver
uniprot_entry
A0A087WXR7_HUMAN
resolver
uniprot_entry
A0A2R8Y883_HUMAN
resolver
uniprot_entry
Q8N451_HUMAN
resolver
uniprot_entry
RNH2B_HUMAN
resolver
uniprot_sec
A0A1B0GUE7
resolver
uniprot_sec
G3XAJ1
resolver
uniprot_sec
Q05DR2
resolver
uniprot_sec
Q6PK48
resolver
uniprot_sec
Q9HAF7
resolver
amino_acid_sequence
MAAGVDCGDGVGARQHVFLVSEYLKDASKKMKNGLMFVKLVNPCSGEGAIYLFNMCLQQLFEVKVFKEKHHSWFINQSVQSGGLLHFATPVDPLFLLLHYLIKADKEGKFQPLDQVVVDNVFPNCILLLKLPGLEKLLHHVTEEKGNPEIDNKKYYKYSKEKTLKWLEKKVNQTVAALKTNNVNVSSRVQSTAFFSGDQASTDKEEDYIRYAHGLISDYIPKELSDDLSKYLKLPEPSASLPNPPSKKIKLSDEPVEAKEDYTKFNTKDLKTEKKNSKMTAAQKALAKVDKSGMKSIDTFFGVKNKKKIGKV
uniprot
proteins
disease_involvement
DISEASE: Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]: A 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. {ECO:0000269|PubMed:16845400, ECO:0000269|PubMed:17846997, ECO:0000269|PubMed:20131292, ECO:0000269|PubMed:21177858}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:16845400, ECO:0000269|PubMed:21177858}.
uniprot
proteins
mass_dalton
35139
uniprot
proteins
protein_family
RNase H2 subunit B family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16845400
uniprot
proteins
pubmed
17846997
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20131292
uniprot
proteins
pubmed
21177858
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
312
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins