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
ENST00000265758 ENSP00000265758
ENST00000421304 ENSP00000391761
ENST00000432522 ENSP00000390136
ENST00000421744 ENSP00000404981
ENST00000441822 ENSP00000392039
ENST00000436944 ENSP00000391410
ENST00000428163 ENSP00000390048
ENST00000423497 ENSP00000401191
ENST00000430270 ENSP00000398314
ENST00000430446 ENSP00000415387
ENST00000442099 ENSP00000398732
ENST00000453316 ENSP00000394852
ENST00000464615
ENST00000478670
ENST00000496153
ENST00000463307
ENST00000487006
ENST00000471215
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 12 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008168 methyltransferase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006364 rRNA processing
GO:0008150 biological_process
GO:0008152 metabolic process
GO:0016568 chromatin modification
GO:0032259 methylation
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
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