WBSCR22

WBSCR22
Identifiers
Aliases	WBSCR22, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, Williams-Beuren syndrome chromosome region 22
External IDs	MGI: 1913388 HomoloGene: 5486 GeneCards: WBSCR22
Gene ontology Molecular function • methyltransferase activity • transferase activity • poly(A) RNA binding Cellular component • cytoplasm • nucleolus • nucleus • cellular component • nucleoplasm Biological process • rRNA processing • methylation • metabolic process • regulation of transcription, DNA-templated • biological process • ribosome biogenesis • transcription, DNA-templated • covalent chromatin modification • rRNA methylation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	114049	66138
Ensembl	ENSG00000071462	ENSMUSG00000005378
UniProt	O43709	Q9CY21
RefSeq (mRNA)	NM_001202560 NM_017528	NM_025375
RefSeq (protein)	NP_001189489.1 NP_059998.2	NP_079651.2
Location (UCSC)	Chr 7: 73.68 – 73.71 Mb	Chr 5: 135.05 – 135.06 Mb
PubMed search	[1]	[2]
Wikidata

Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.^[3][4][5]

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.^[5]

References

Further reading