InnateDB Protein
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IDBP-243594.6
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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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GOSR2
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Protein Name
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golgi SNAP receptor complex member 2
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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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ENSP00000377101
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InnateDB Gene
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IDBG-55751 (GOSR2)
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Protein Structure
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Function |
Involved in transport of proteins from the cis/medial- Golgi to the trans-Golgi network.
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Subcellular Localization |
Golgi apparatus, cis-Golgi network membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus (By similarity). {ECO:0000250}.
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Disease Associations |
Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. {ECO:0000269PubMed:21549339}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
1
[view]
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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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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 |
IPR010989
t-SNARE
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PFAM |
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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 |
O14653
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PhosphoSite |
PhosphoSite-O14653
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9570
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UniGene |
Hs.614461
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RefSeq |
NP_004278
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HUGO |
HGNC:4431
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OMIM |
604027
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CCDS |
CCDS42355
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HPRD |
04937
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IMGT |
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EMBL |
AC005670
AF007548
AF229796
AK290890
BC009710
BC034762
CH471231
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GenPept |
AAB82651
AAH09710
AAH34762
AAK01855
BAF83579
EAW57694
EAW57695
EAW57699
EAW57700
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