Human Gene RNASET2 (ENST00000476238.6) Description and Page Index

Description: Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism. (from UniProt O00584)
Gencode Transcript: ENST00000476238.6
Gencode Gene: ENSG00000026297.16
Transcript (Including UTRs)
Position: hg38 chr6:166,929,540-166,957,184 Size: 27,645 Total Exon Count: 10 Strand: -
Coding Region
Position: hg38 chr6:166,929,588-166,956,182 Size: 26,595 Coding Exon Count: 9

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: RNT2_HUMAN DESCRIPTION: RecName: Full=Ribonuclease T2; EC=3.1.27.-; AltName: Full=Ribonuclease 6; Flags: Precursor; FUNCTION: Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism. ENZYME REGULATION: Inhibited by Zn(2+) and Cu(2+). SUBCELLULAR LOCATION: Secreted. Lysosome lumen. Endoplasmic reticulum lumen. Note=Subcellular fractionation of transfected ovarian cancer cells reveals full-length RNASET2 in the endoplasmic reticulum fraction and the 2 smaller RNASET2 proteolytic products in the lysosome fraction. TISSUE SPECIFICITY: Ubiquitous. Higher expression levels observed in the temporal lobe and fetal brain. DISEASE: Defects in RNASET2 are the cause of leukoencephalopathy cystic without megalencephaly (LCWM) [MIM:612951]. An infantile- onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications. SIMILARITY: Belongs to the RNase T2 family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RNASET2ID518ch6q27.html";