WBSCR22

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)
End	73,705,161 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,093,813 bp
RNA expression pattern
	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
	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
	114049
	66138
	ENSG00000071462
	ENSMUSG00000005378
	O43709
	Q9CY21
	NM_001202560; NM_017528
	NM_025375; NM_001363324; NM_001363325; NM_001363326; NM_001363327
	NP_001189489; NP_059998
	NP_079651; NP_001350253; NP_001350254; NP_001350255; NP_001350256
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000071462 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005378 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.
^ Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenet Cell Genet. 95 (1–2): 20–7. doi:10.1159/000057012. PMID 11978965. S2CID 21992204.
^ ^a ^b "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000071462 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000005378 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12073013-5] Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. S2CID 29964959.

[pmid11978965-6] Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenet Cell Genet. 95 (1–2): 20–7. doi:10.1159/000057012. PMID 11978965. S2CID 21992204.

[entrez-7] "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".

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