InnateDB Protein
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IDBP-31031.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GRHL2
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Protein Name
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grainyhead-like 2 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000251808
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InnateDB Gene
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IDBG-31029 (GRHL2)
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Protein Structure
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Function |
May function as a transcription factor. {ECO:0000269PubMed:12175488}.
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Subcellular Localization |
Nucleus.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007604
CP2 transcription factor
IPR029071
Ubiquitin-related domain
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PFAM |
PF04516
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6ISB3
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PhosphoSite |
PhosphoSite-Q6ISB3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79977
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UniGene |
Hs.661088
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RefSeq |
NP_079191
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HUGO |
HGNC:2799
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OMIM |
608576
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CCDS |
CCDS34931
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HPRD |
10545
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IMGT |
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EMBL |
AK023844
BC069618
BC069633
BC069638
BC129822
BC129823
CH471060
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GenPept |
AAH69618
AAH69633
AAH69638
AAI29823
AAI29824
BAB14699
EAW91834
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