InnateDB Protein
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IDBP-26328.7
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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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COG6
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Protein Name
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component of oligomeric golgi complex 6
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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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ENSP00000348983
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InnateDB Gene
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IDBG-26322 (COG6)
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Protein Structure
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Function |
Required for normal Golgi function. {ECO:0000250}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
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Disease Associations |
Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy. {ECO:0000269PubMed:20605848}. Note=The disease is caused by mutations affecting the gene represented in this entry.Shaheen syndrome (SHNS) [MIM:615328]: An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. {ECO:0000269PubMed:23606727}. 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 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[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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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 |
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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 |
Q9Y2V7
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PhosphoSite |
PhosphoSite-Q9Y2V7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
57511
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UniGene |
Hs.614467
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RefSeq |
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HUGO |
HGNC:18621
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OMIM |
606977
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CCDS |
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HPRD |
08445
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IMGT |
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EMBL |
AB032960
AF116827
AL512505
BC051723
CH471075
CR627406
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GenPept |
AAD29633
AAH51723
BAA86448
CAH10495
CAI16937
CAM23735
EAX08619
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