Version 5.4
Homo sapiens Protein: TBL2
Summary
InnateDB Protein IDBP-19964.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBL2
Protein Name transducin (beta)-like 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000307260
InnateDB Gene IDBG-19962 (TBL2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Note=TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005575 cellular_component
Protein Structure and Domains
PDB ID
InterPro IPR001680 WD40 repeat
IPR017986 WD40-repeat-containing domain
IPR020472 G-protein beta WD-40 repeat
PFAM PF00400
PRINTS PR00320
PIRSF
SMART SM00320
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y4P3
PhosphoSite PhosphoSite-Q9Y4P3
TrEMBL F2Z3G3
UniProt Splice Variant
Entrez Gene 26608
UniGene Hs.647044
RefSeq NP_036585
HUGO HGNC:11586
OMIM 605842
CCDS CCDS5551
HPRD 09319
IMGT
EMBL AC005089 AF056183 AF097484 AF097485 AK302277 AL080162 AY358518
GenPept AAD28083 AAF06823 AAF06824 AAQ88882 BAG63621 CAB45751

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca