Aliases for WBSCR22 Gene
- Williams-Beuren Syndrome Chromosome Region 22 2 3 5
- Metastasis-Related Methyltransferase 1 2 3 4
- Williams-Beuren Syndrome Chromosomal Region 22 Protein 3 4
- Bud Site Selection Protein 23 Homolog 3 4
- MERM1 3 4
- Williams-Beuren Candidate Region Putative Methyltransferase 3
- Probable 18S RRNA (Guanine-N(7))-Methyltransferase 3
- Williams Beuren Syndrome Chromosome Region 22 2
External Ids for WBSCR22 Gene
Previous GeneCards Identifiers 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 rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and 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).