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Q5RJF7 (CA2D4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Voltage-dependent calcium channel subunit alpha-2/delta-4
Alternative name(s):
Voltage-gated calcium channel subunit alpha-2/delta-4
Gene names
Name:Cacna2d4
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1116 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel By similarity. Ref.3

Subunit structure

Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio Probable. Interacts with CACNA1C and CACNB3 By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Domain

The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch By similarity.

Post-translational modification

May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role By similarity.

Involvement in disease

Defects in Cacna2d4 are a cause of cone-rod dysfunction. Mice display affected retinal ribbon-type synapses. The retinopathy is accompanied by a substantial loss in the activities of the second-order neurons. Rod photoreceptor responses are maintained with reduced amplitude, whereas cone activities are absent.

Sequence similarities

Belongs to the calcium channel subunit alpha-2/delta family.

Contains 1 cache domain.

Contains 1 VWFA domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5RJF7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q5RJF7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     528-552: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4747 Potential
Chain48 – 11161069Voltage-dependent calcium channel subunit alpha-2/delta-4
PRO_0000304658
Chain48 – 970923Voltage-dependent calcium channel subunit alpha-2-4 Potential
PRO_0000304659
Chain971 – 1116146Voltage-dependent calcium channel subunit delta-4 Potential
PRO_0000304660

Regions

Topological domain48 – 10941047Extracellular Potential
Transmembrane1095 – 111521Helical; Potential
Topological domain11161Cytoplasmic Potential
Domain270 – 452183VWFA
Domain466 – 55994Cache
Motif276 – 2805MIDAS-like motif

Sites

Metal binding2761Divalent metal cation By similarity
Metal binding2781Divalent metal cation By similarity
Metal binding2801Divalent metal cation By similarity

Amino acid modifications

Glycosylation1801N-linked (GlcNAc...) Potential
Glycosylation6431N-linked (GlcNAc...) Potential
Glycosylation7251N-linked (GlcNAc...) Potential
Disulfide bond426 ↔ 1076Interchain (between alpha-2-4 and delta-4 chains) By similarity

Natural variations

Alternative sequence528 – 55225Missing in isoform 2.
VSP_044323

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: 731AE2A4B090B143

FASTA1,116125,991
        10         20         30         40         50         60 
MARCPMLSSS HNQDHSGRWT AVWTSLWKTP IILWLLLSDT SLPTVRGQTT VPLETVKLWA 

        70         80         90        100        110        120 
DTFGRNLYNT VTRYSGSLLL QKKYKDAEPS LKIKEVDGLE LVKKFSEDME TMLRRKVEAV 

       130        140        150        160        170        180 
ESLVEAAEEA DLNHEFNASL VFNYYNSVLI NEKDDKGNYV ELGAEFLLES DAHFSNLRVN 

       190        200        210        220        230        240 
VSMSSVQLPT NVYNKDPDIL NGVYMSEALN PVFVENFQRD PTLTWQYFGS STGFFRIYPG 

       250        260        270        280        290        300 
IKWMPDENGV IAFDCRNRGW YIQAATSPKD IVILVDISGS MKGLRMAIAK HTITTILDTL 

       310        320        330        340        350        360 
GENDFVNIIA YNDYVHYIEP CFKGILVQAD RDNREHFKQL VDELMVKGVG VVSQALIEAF 

       370        380        390        400        410        420 
EILKQFQESK QGSLCNQAIM LITDGAVEDY EPVFETYNWP DRKVRVFTYL IGREVTFADR 

       430        440        450        460        470        480 
MKWIACNNKG YYTQISTLAD AQESVMEYLH VLSRPMVINH DHDIIWTEAY MDSRLFTSEA 

       490        500        510        520        530        540 
QSLMLLTTVA MPVFSKKNET RSHGILLGVV GSDVTLRELM KLAPRYKLGV HGYAFLNTNN 

       550        560        570        580        590        600 
GYILSHPDLR PLYREGKKLR PKPNYNSVDL SEVEWEDQAE ILRTAMINGE TGSHSMDVKV 

       610        620        630        640        650        660 
PLDKGKRVLF LTNDYFFTDI SDTPFSLGVV LTRGHGEYIL LGNTSVEEGL HDLLHPDLTL 

       670        680        690        700        710        720 
ASDWIYCITD IDPDHRKLSQ LEAVVRFLTG VDPDLECDEE LVREVLFDAV VTAPMEAYWT 

       730        740        750        760        770        780 
ALALNISEES EPGVDVAFLG TRAGLLRRSL FVGSEKVSDR KFLTPEDEAS IFTMDHFPLW 

       790        800        810        820        830        840 
YRQASEQPPG SFVFNLRWAE GPDSPGKPVA VRASTAVTVT VDGKTAIAAA VGIQMQADYL 

       850        860        870        880        890        900 
QRQFWAAMQQ CNAVEGPCLK SCEDTDLDCF VIDNNGFVLI SERPQEMGRL LGEADGALMK 

       910        920        930        940        950        960 
QLLSMGVFSR VTMYDYQAMC KPPDHHHSAA ESLFSPLSAF LMVARWLLHE CLLFLLEWSA 

       970        980        990       1000       1010       1020 
WGSWQDKGSE AKSVFHHSHK HKKQDLLHPC DTEYPVFVHQ TAIQEANGII ECGGCQKTFV 

      1030       1040       1050       1060       1070       1080 
MQQIPRSNLL LLVTDRTCDC SAHSPILQEA TEVKYNASVK CDRMRSQKPR RRPGSCHAFH 

      1090       1100       1110 
PEENAQDCGG ASDTLPSSPL LLLSLGAWLL PPQLLW 

« Hide

Isoform 2 [UniParc].

Checksum: C58AF6217F1C9AA9
Show »

FASTA1,091123,226

References

« Hide 'large scale' references
[1]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[2]"The Ca2+ channel alpha2delta-1 subunit determines Ca2+ current kinetics in skeletal muscle but not targeting of alpha1S or excitation-contraction coupling."
Obermair G.J., Kugler G., Baumgartner S., Tuluc P., Grabner M., Flucher B.E.
J. Biol. Chem. 280:2229-2237(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[3]"Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation."
Wycisk K.A., Budde B., Feil S., Skosyrski S., Buzzi F., Neidhardt J., Glaus E., Nurnberg P., Ruether K., Berger W.
Invest. Ophthalmol. Vis. Sci. 47:3523-3530(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CONE-ROD DYSFUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC115816 Genomic DNA. No translation available.
BK005394 mRNA. Translation: DAA05529.1.
RefSeqNP_001028554.2. NM_001033382.2.
UniGeneMm.440773.

3D structure databases

ProteinModelPortalQ5RJF7.
SMRQ5RJF7. Positions 263-451, 461-635.
ModBaseSearch...
MobiDBSearch...

Proteomic databases

PRIDEQ5RJF7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID319734.
KEGGmmu:319734.

Organism-specific databases

CTD93589.
MGIMGI:2442632. Cacna2d4.

Phylogenomic databases

eggNOGNOG307080.
HOGENOMHOG000010247.
HOVERGENHBG107124.
InParanoidQ5RJF7.
KOK04861.

Gene expression databases

ArrayExpressQ5RJF7.
BgeeQ5RJF7.
GenevestigatorQ5RJF7.

Family and domain databases

Gene3D3.40.50.410. 1 hit.
InterProIPR004010. Cache_domain.
IPR013608. VWA_N.
IPR002035. VWF_A.
[Graphical view]
PfamPF02743. Cache_1. 1 hit.
PF08399. VWA_N. 1 hit.
[Graphical view]
SMARTSM00327. VWA. 1 hit.
[Graphical view]
PROSITEPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCACNA2D4. mouse.
NextBio395288.
PROQ5RJF7.
SOURCESearch...

Entry information

Entry nameCA2D4_MOUSE
AccessionPrimary (citable) accession number: Q5RJF7
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: December 21, 2004
Last modified: March 19, 2014
This is version 64 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot