Mus musculus Protein: Cacna2d2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-625849.2 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | Cacna2d2 | ||||||||||||||||||
Protein Name | calcium channel, voltage-dependent, alpha 2/delta subunit 2 | ||||||||||||||||||
Synonyms | a2d2; Cacna2d; du; mKIAA0558; td; torpid; | ||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||
Ensembl Protein | ENSMUSP00000126029 | ||||||||||||||||||
InnateDB Gene | IDBG-197171 (Cacna2d2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). {ECO:0000269PubMed:15331424}. | ||||||||||||||||||
Subcellular Localization | Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Colocalizes with CACNA1A in lipid raft fractions. {ECO:0000269PubMed:11756448, ECO:0000269PubMed:16928863}. | ||||||||||||||||||
Disease Associations | Note=Defects in Cacna2d2 are the cause of ducky phenotype (du). Du mice have spike-wave seizures characteristic of absence epilepsy and ataxia, with accompanying decreased calcium channel current in cerebellar Purkinje cells. | ||||||||||||||||||
Tissue Specificity | Predominantly expressed in brain in a restricted pattern. Also expressed at lower level in kidney and testis Not expressed in lung at any moment of development. In brain, it localizes to sections of P21 brain. Expressed at high level in the cerebellum, with moderate levels in medulla, pons, and striatum. Also expressed in cortex, hippocampus, habenula and nucleus reticularis thalami (nRT). Strongly expressed in cerebellar Purkinje cells. {ECO:0000269PubMed:10762351}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | MGI:1929813 | ||||||||||||||||||
InterPro |
IPR002035
von Willebrand factor, type A IPR004010 Cache domain IPR013608 VWA N-terminal IPR013680 Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region IPR013822 Signal recognition particle, SRP54 subunit, helical bundle |
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PFAM |
PF00092
PF02743 PF08269 PF08399 PF08473 PF02881 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00327
SM01049 SM00963 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q6PHS9 | ||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 56808 | ||||||||||||||||||
UniGene | Mm.273084 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
MGI ID | |||||||||||||||||||
MGI Symbol | Cacna2d2 | ||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB093246 AF169633 AF247139 AF247141 AF247142 AK044603 AK161839 AK164143 AY502107 BC056389 BC158058 | ||||||||||||||||||
GenPept | AAD48037 AAG47846 AAH56389 AAI58059 AAL01650 AAL01651 AAR89454 BAC31998 BAC41430 BAE36599 BAE37646 | ||||||||||||||||||