InnateDB Protein
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IDBP-43077.5
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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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PRICKLE2
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Protein Name
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prickle homolog 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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ENSP00000295902
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InnateDB Gene
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IDBG-43075 (PRICKLE2)
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Protein Structure
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Function |
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Subcellular Localization |
Nucleus membrane {ECO:0000305}.
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Disease Associations |
Epilepsy, progressive myoclonic 5 (EPM5) [MIM:613832]: A neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms including cognitive decline and persistent movement abnormalities. {ECO:0000269PubMed:21276947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. {ECO:0000269PubMed:12525887}.
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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 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[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 |
2 [view]
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Molecular Function |
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Biological Process |
GO:0031175
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neuron projection development
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GO:0045197
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establishment or maintenance of epithelial cell apical/basal polarity
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Cellular Component |
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PDB ID |
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InterPro |
IPR001781
Zinc finger, LIM-type
IPR010442
PET domain
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PFAM |
PF00412
PF06297
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PRINTS |
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PIRSF |
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SMART |
SM00132
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z3G6
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PhosphoSite |
PhosphoSite-Q7Z3G6
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TrEMBL |
C9JY03
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UniProt Splice Variant |
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Entrez Gene |
166336
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UniGene |
Hs.743295
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RefSeq |
NP_942559
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HUGO |
HGNC:20340
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OMIM |
608501
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CCDS |
CCDS2902
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HPRD |
16342
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IMGT |
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EMBL |
AC092040
AC096888
AC103557
AC136275
AL833539
BC119002
BX537915
CH471055
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GenPept |
AAI19003
CAD97898
EAW65428
EAW65429
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