Homo sapiens Gene: WBSCR22 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Gene | IDBG-20258.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | WBSCR22 | ||||||||||||||||||
Gene Name | Williams Beuren syndrome chromosome region 22 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000071462 | ||||||||||||||||||
Encoded Proteins |
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
Williams Beuren syndrome chromosome region 22
|
||||||||||||||||||
Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
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] |
||||||||||||||||||
Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 7:73683025-73705161 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q11.23 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Hs.604714 Hs.691546 Hs.729489 | ||||||||||||||||||
RefSeq | NM_001202560 NM_017528 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS5557 CCDS56490 | ||||||||||||||||||
HPRD | 15659 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||