Version 5.4
Homo sapiens Protein: GTF2IRD2
Summary
InnateDB Protein IDBP-379155.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GTF2IRD2
Protein Name GTF2I repeat domain containing 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000406723
InnateDB Gene IDBG-21608 (GTF2IRD2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Nucleus.
Disease Associations Note=GTF2IRD2 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.
Tissue Specificity Ubiquitous. {ECO:0000269PubMed:15100712}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR004212 GTF2I-like repeat
IPR012337 Ribonuclease H-like domain
PFAM PF02946
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86UP8
PhosphoSite PhosphoSite-Q86UP8
TrEMBL
UniProt Splice Variant
Entrez Gene 84163
UniGene Hs.650847
RefSeq NP_775808
HUGO HGNC:30775
OMIM 608899
CCDS CCDS5576
HPRD 16402
IMGT
EMBL AK098269 AK291431 AL833932 AL834153 AY260739 AY312853 AY312854 AY336979 AY336980 AY336981 BC047706 BC061590 BC067859
GenPept AAH47706 AAH61590 AAH67859 AAP14955 AAQ19673 AAQ19674 AAR36865 AAR36866 AAR36867 BAF84120 BAG53604 CAD38788 CAD38861

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