InnateDB Protein
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IDBP-590032.3
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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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CACNA2D4
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Protein Name
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calcium channel, voltage-dependent, alpha 2/delta subunit 4
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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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ENSP00000442329
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InnateDB Gene
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IDBG-11938 (CACNA2D4)
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Protein Structure
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Function |
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. {ECO:0000269PubMed:12181424}.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
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Disease Associations |
Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level). {ECO:0000269PubMed:12181424}.
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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 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
GO:0034765
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regulation of ion transmembrane transport
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GO:0050908
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detection of light stimulus involved in visual perception
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GO:0070588
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calcium ion transmembrane transport
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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 |
Q7Z3S7
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PhosphoSite |
PhosphoSite-Q7Z3S7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
93589
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UniGene |
Hs.13768
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RefSeq |
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HUGO |
HGNC:20202
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OMIM |
608171
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CCDS |
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HPRD |
12182
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IMGT |
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EMBL |
AC005342
AC005343
AF516695
BC048288
BX537436
BX537437
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GenPept |
AAH48288
AAN06672
CAD97678
CAD97679
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