InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-20260

Williams Beuren syndrome chromosome region 22

IDBP-377780

Williams Beuren syndrome chromosome region 22

IDBP-377782

Williams Beuren syndrome chromosome region 22

IDBP-377784

Williams Beuren syndrome chromosome region 22

IDBP-377788

Williams Beuren syndrome chromosome region 22

IDBP-377792

Williams Beuren syndrome chromosome region 22

IDBP-377794

Williams Beuren syndrome chromosome region 22

IDBP-377796

Williams Beuren syndrome chromosome region 22

IDBP-377799

Williams Beuren syndrome chromosome region 22

IDBP-377801

Williams Beuren syndrome chromosome region 22

IDBP-377802

Williams Beuren syndrome chromosome region 22

IDBP-377805

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

ENSMUSG00000005378

View Gene Order

ENSBTAG00000017067

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