RNASEH2C
entrez
84153
canonical
uniprot
Q8TDP1
canonical
ensembl
ENSG00000172922
resolver
ensp
ENSP00000308193
resolver
ensp
ENSP00000432081
resolver
ensp
ENSP00000435717
resolver
ensp
ENSP00000493695
resolver
enst
ENST00000308418
resolver
enst
ENST00000531596
resolver
enst
ENST00000534482
resolver
enst
ENST00000644142
resolver
genesymbol
RNASEH2C
resolver
genesymbol_syn
AYP1
resolver
hgnc
HGNC:24116
resolver
uniprot
Q9H7F5
resolver
uniprot_entry
RNH2C_HUMAN
resolver
uniprot_sec
Q9H7F5
resolver
amino_acid_sequence
MESGDEAAIERHRVHLRSATLRDAVPATLHLLPCEVAVDGPAPVGRFFTPAIRQGPEGLEVSFRGRCLRGEEVAVPPGLVGYVMVTEEKKVSMGKPDPLRDSGTDDQEEEPLERDFDRFIGATANFSRFTLWGLETIPGPDAKVRGALTWPSLAAAIHAQVPED
uniprot
proteins
disease_involvement
DISEASE: Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]: 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}. 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
17840
uniprot
proteins
protein_family
RNase H2 subunit C family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16845400
uniprot
proteins
pubmed
17846997
uniprot
proteins
pubmed
19413330
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
164
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins