WBSCR22

Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.^[5][6][7]

BUD23
Identifiers
Aliases	BUD23, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22, Williams-Beuren syndrome chromosome region 22, rRNA methyltransferase and ribosome maturation factor, BUD23 rRNA methyltransferase and ribosome maturation factor
External IDs	OMIM: 615733; MGI: 1913388; HomoloGene: 5486; GeneCards: BUD23; OMA:BUD23 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 73,683,025 bp[1] End 73,705,161 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 135,081,811 bp[2] End 135,093,813 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis islet of Langerhans olfactory zone of nasal mucosa gastrocnemius muscle apex of heart oocyte right uterine tube left ventricle muscle of thigh Top expressed in epiblast embryo embryo ventricular zone neural layer of retina neural tube ileum limb morula mesencephalon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity RNA binding protein heterodimerization activity rRNA (guanine) methyltransferase activity Cellular component cytoplasm nucleus nucleoplasm nucleolus perinuclear region of cytoplasm Biological process rRNA processing methylation metabolism regulation of transcription, DNA-templated ribosome biogenesis transcription, DNA-templated rRNA methylation positive regulation of rRNA processing rRNA (guanine-N7)-methylation chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 114049 66138 Ensembl ENSG00000071462 ENSMUSG00000005378 UniProt O43709 Q9CY21 RefSeq (mRNA) NM_001202560 NM_017528 NM_025375 NM_001363324 NM_001363325 NM_001363326 NM_001363327 RefSeq (protein) NP_001189489 NP_059998 NP_079651 NP_001350253 NP_001350254 NP_001350255 NP_001350256 Location (UCSC) Chr 7: 73.68 – 73.71 Mb Chr 5: 135.08 – 135.09 Mb PubMed search [3] [4]
Wikidata
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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.^[7]