InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Cacna2d2

Summary

InnateDB Protein

IDBP-197173.6

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

ENSMUSP00000010210

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.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005245	voltage-gated calcium channel activity
GO:0005525	GTP binding
GO:0046872	metal ion binding

Biological Process

GO:0006614	SRP-dependent cotranslational protein targeting to membrane
GO:0006816	calcium ion transport
GO:0007528	neuromuscular junction development
GO:0034765	regulation of ion transmembrane transport
GO:0040014	regulation of multicellular organism growth
GO:0046622	positive regulation of organ growth
GO:0048747	muscle fiber development
GO:0060024	rhythmic synaptic transmission
GO:0070588	calcium ion transmembrane transport

Cellular Component

GO:0005891

voltage-gated calcium channel complex

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

PFAM

PF00092
PF02743
PF08269
PF08399
PF08473
PF02881

PRINTS

PIRSF

SMART

SM00327
SM01049
SM00963

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q6PHS9