RNASET2

RNASET2 (ribonuclease T2) is an enzyme which belongs to the RNase T2 family. It is highly expressed in the temporal lobe and fetal brain. RNASET2 gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. Defects in RNASET2 are the cause of leukoencephalopathy cystic without megalencephaly. 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.

RNASET2 Related Areas

Enzyme>> RNASET2

RNASET2 Alternative Names

RNASE6PL, ribonuclease 6 [Homo sapiens]

Summaries for RNASET2

Entrez Gene summary for RNASET2:

This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]

OMIM - description for RNASET2:

RNASET2 belongs to the RNase T2 family of proteins that are present in all phyla and primarily function in the extracellular milieu. In some microorganisms and plants, T2 RNases mediate phosphate uptake by digesting extracellular RNAs. In other species, they provide host protection against pathogens or trigger cellular senescence. Human RNASET2 appears to suppress tumorigenicity (Monti et al., 2008).

Wikipedia summary for RNASET2:

Ribonuclease T2 is an enzyme that in humans is encoded by the RNASET2 gene.
This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement.

Human RNASET2 Protein General Information

 

• Protein names: RNASET2
• Sequence length: 256 AA.
• Domain: Signal
• Sequence similarities: Belongs to the RNase T2 family.
• Subcellular location: Secreted. 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.
• Involvement in disease: Defects in RNASET2 are the cause of leukoencephalopathy cystic without megalencephaly (LCWM) . 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.

General information above from UniProt

Function for RNASET2 Protein

Genatlas:

• RNASET2 has an interesting biological function in the control of tumourigenesis and metastatization
• RNASET2 may be acting as tumor antagonizing/malignancy suppressor gene
• RNASET2 behaves as a class II tumor suppressor and abolish the tumorigenic potential of an ovarian cancer-derived cell line
• RNASET2 is cell growth regulator and it does not induce senescence in SV40 immortalized cell lines
• RNASET2 modulates the tumor microenvironment to repress cancer growth
• RNASET2 is a unique member of the growing family of tumor-antagonizing genes
• RNASET2 possesses a remarkable tumor suppressor activity

Phenotype Information for RNASET2

• Gene/Locus: RNASET2, RNASE6PL
• Phenotype: Leukoencephalopathy, cystic, without megalencephaly

Phenotype Information for RNASET2 from OMIM (Online Mendelian Inheritance in Man)