WBSCR22

Williams Beuren syndrome chromosome region 22
Identifiers
Symbols	WBSCR22 ; HASJ4442; HUSSY-3; MERM1; PP3381; WBMT
External IDs	OMIM: 615733 MGI: 1913388 HomoloGene: 5486 GeneCards: WBSCR22 Gene
Gene ontology Molecular function • methyltransferase activity • poly(A) RNA binding Cellular component • cellular_component • nucleolus • cytoplasm Biological process • transcription, DNA-templated • regulation of transcription, DNA-templated • rRNA processing • biological_process • chromatin modification • 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_025375
RefSeq (protein)	NP_001189489	NP_079651
Location (UCSC)	Chr 7: 73.68 – 73.71 Mb	Chr 5: 135.05 – 135.06 Mb
PubMed search

Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.^[1][2][3]

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.^[3]

References

1. 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.
2. 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.
3. "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22".

Further reading

• Stanchi F, Bertocco E, Toppo S, et al. (2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences.". Yeast 18 (1): 69–80. doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H. PMID 11124703.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
• Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.