Version 5.4
Homo sapiens Protein: GRHL2
Summary
InnateDB Protein IDBP-238543.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GRHL2
Protein Name grainyhead-like 2 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000379260
InnateDB Gene IDBG-31029 (GRHL2)
Protein Structure
UniProt Annotation
Function May function as a transcription factor. {ECO:0000269PubMed:12175488}.
Subcellular Localization Nucleus.
Disease Associations Deafness, autosomal dominant, 28 (DFNA28) [MIM:608641]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade. {ECO:0000269PubMed:12393799}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in placenta, prostate, brain and kidney. Lower-level expression in a variety of epithelial tissues such as thymus, kidney, lung, salivary gland, mammary gland and digestive tract. Expressed in the cochlear. {ECO:0000269PubMed:12175488, ECO:0000269PubMed:12393799}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
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 IPR007604 CP2 transcription factor
IPR029071 Ubiquitin-related domain
PFAM PF04516
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6ISB3
PhosphoSite PhosphoSite-Q6ISB3
TrEMBL
UniProt Splice Variant
Entrez Gene 79977
UniGene Hs.661088
RefSeq
HUGO HGNC:2799
OMIM 608576
CCDS
HPRD 10545
IMGT
EMBL AK023844 BC069618 BC069633 BC069638 BC129822 BC129823 CH471060
GenPept AAH69618 AAH69633 AAH69638 AAI29823 AAI29824 BAB14699 EAW91834

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