Aliases for WBSCR22 Gene
- Williams Beuren Syndrome Chromosome Region 22 2 3
- Metastasis-Related Methyltransferase 1 2 3 4
- MERM1 3 4 6
- Williams-Beuren Syndrome Chromosomal Region 22 Protein 3 4
- Bud Site Selection Protein 23 Homolog 3 4
- Williams-Beuren Candidate Region Putative Methyltransferase 3
- Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3
External Ids for WBSCR22 Gene
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. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
GeneCards Summary for WBSCR22 Gene
WBSCR22 (Williams Beuren Syndrome Chromosome Region 22) is a Protein Coding gene. Diseases associated with WBSCR22 include williams-beuren syndrome. Among its related pathways are Phenylalanine metabolism and Histidine metabolism. GO annotations related to this gene include methyltransferase activity.
UniProtKB/Swiss-Prot for WBSCR22 Gene
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. Required for maintenance of dimethylation on histone H3 Lys-79 (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).