WBSCR22

From Wikipedia, the free encyclopedia

Williams Beuren syndrome chromosome region 22

Identifiers

WBSCR22; HASJ4442; HUSSY-3; MGC19709; MGC2022; MGC5140; PP3381; WBMT

External IDs

MGI: 1913388 HomoloGene: 5486

Gene ontology
Molecular Function:	• methyltransferase activity • transferase activity
Cellular Component:	• cellular_component • nucleus
Biological Process:	• biological_process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_017528 (mRNA)
NP_059998 (protein)

NM_025375 (mRNA)
NP_079651 (protein)

Location

Chr 7: 72.74 - 72.75 Mb

Chr 5: 135.34 - 135.35 Mb

Pubmed search

[1]

[2]

Williams Beuren syndrome chromosome region 22, also known as WBSCR22, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22.

[edit] 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.
Doll A, Grzeschik KH (2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.". Cytogenet. Cell Genet. 95 (1-2): 20-7. PMID 11978965.
Merla G, Ucla C, Guipponi M, Reymond A (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.
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. 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. 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. 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.