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UniProtKB - Q9NY47 (CA2D2_HUMAN)

Entry version 143 (02 Dec 2020)
Sequence version 2 (16 May 2012)
Previous versions | rss
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Protein

Voltage-dependent calcium channel subunit alpha-2/delta-2

Gene

CACNA2D2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis.3 Publications

Miscellaneous

Binds gabapentin, an antiepileptic drug.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi297Divalent metal cationBy similarity1
Metal bindingi299Divalent metal cationBy similarity1
Metal bindingi301Divalent metal cationBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NY47

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-112308, Presynaptic depolarization and calcium channel opening
R-HSA-400042, Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-422356, Regulation of insulin secretion
R-HSA-5576892, Phase 0 - rapid depolarisation
R-HSA-5576893, Phase 2 - plateau phase

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.18.2.1, the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Voltage-dependent calcium channel subunit alpha-2/delta-2
Alternative name(s):
Voltage-gated calcium channel subunit alpha-2/delta-2
Cleaved into the following 2 chains:
Voltage-dependent calcium channel subunit alpha-2-2
Voltage-dependent calcium channel subunit delta-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CACNA2D2
Synonyms:KIAA0558
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000007402.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:1400, CACNA2D2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607082, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NY47

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini19 – 1113ExtracellularSequence analysisAdd BLAST1095
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1114 – 1134HelicalSequence analysisAdd BLAST21
Topological domaini1135 – 1150CytoplasmicSequence analysisAdd BLAST16

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebellar atrophy with seizures and variable developmental delay (CASVDD)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083105261P → L in CASVDD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1211603072EnsemblClinVar.1
Natural variantiVAR_0831061047L → P in CASVDD; impaired regulation of current density and inactivation kinetics of N- and L-type calcium channels. 1 PublicationCorresponds to variant dbSNP:rs587776948EnsemblClinVar.1
Natural variantiVAR_0831071053L → P in CASVDD; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		9254

MalaCards human disease database

More...MalaCardsi		CACNA2D2
MIMi618501, phenotype

Open Targets

More...OpenTargetsi		ENSG00000007402

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26012

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NY47, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3896

Drug and drug target database

More...DrugBanki		DB01244, Bepridil
DB13746, Bioallethrin
DB11148, Butamben
DB00228, Enflurane
DB00153, Ergocalciferol
DB01023, Felodipine
DB00996, Gabapentin
DB08872, Gabapentin enacarbil
DB00270, Isradipine
DB01054, Nitrendipine
DB00421, Spironolactone

DrugCentral

More...DrugCentrali		Q9NY47

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CACNA2D2

Domain mapping of disease mutations (DMDM)

More...DMDMi		387912827

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Sequence analysisAdd BLAST18
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030463719 – 1150Voltage-dependent calcium channel subunit alpha-2/delta-2Add BLAST1132
ChainiPRO_000030463819 – 1001Voltage-dependent calcium channel subunit alpha-2-2Sequence analysisAdd BLAST983
ChainiPRO_00003046391002 – 1150Voltage-dependent calcium channel subunit delta-2Sequence analysisAdd BLAST149

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi386N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi418N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi443 ↔ 1098Interchain (between alpha-2-2 and delta-2 chains)By similarity
Glycosylationi507N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi540N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi624N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi861N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NY47

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NY47

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NY47

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NY47

PeptideAtlas

More...PeptideAtlasi		Q9NY47

PRoteomics IDEntifications database

More...PRIDEi		Q9NY47

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83169 [Q9NY47-1]
83170 [Q9NY47-2]
83171 [Q9NY47-3]
83172 [Q9NY47-4]
83173 [Q9NY47-5]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9NY47

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9NY47, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NY47

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NY47

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney, liver, placenta and brain.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000007402, Expressed in visceral pleura and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NY47, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NY47, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000007402, Tissue enriched (lung)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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 (By similarity).

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114678, 32 interactors

Protein interaction database and analysis system

More...IntActi		Q9NY47, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000418081

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9NY47

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NY47, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NY47

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini291 – 469VWFAPROSITE-ProRule annotationAdd BLAST179
Domaini485 – 574CacheAdd BLAST90

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi297 – 301MIDAS-like motif5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2353, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156238

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004660_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NY47

Database of Orthologous Groups

More...OrthoDBi		510149at2759

TreeFam database of animal gene trees

More...TreeFami		TF315824

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013680, VDCC_a2/dsu
IPR013608, VWA_N
IPR002035, VWF_A
IPR036465, vWFA_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08473, VGCC_alpha2, 1 hit
PF00092, VWA, 1 hit
PF08399, VWA_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00327, VWA, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53300, SSF53300, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50234, VWFA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NY47-1) [UniParc]FASTAAdd to basket
Also known as: Alpha2delta-2a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAVPARTCGA SRPGPARTAR PWPGCGPHPG PGTRRPTSGP PRPLWLLLPL 
        60         70         80         90        100
LPLLAAPGAS AYSFPQQHTM QHWARRLEQE VDGVMRIFGG VQQLREIYKD 
       110        120        130        140        150
NRNLFEVQEN EPQKLVEKVA GDIESLLDRK VQALKRLADA AENFQKAHRW 
       160        170        180        190        200
QDNIKEEDIV YYDAKADAEL DDPESEDVER GSKASTLRLD FIEDPNFKNK 
       210        220        230        240        250
VNYSYAAVQI PTDIYKGSTV ILNELNWTEA LENVFMENRR QDPTLLWQVF 
       260        270        280        290        300
GSATGVTRYY PATPWRAPKK IDLYDVRRRP WYIQGASSPK DMVIIVDVSG 
       310        320        330        340        350
SVSGLTLKLM KTSVCEMLDT LSDDDYVNVA SFNEKAQPVS CFTHLVQANV 
       360        370        380        390        400
RNKKVFKEAV QGMVAKGTTG YKAGFEYAFD QLQNSNITRA NCNKMIMMFT 
       410        420        430        440        450
DGGEDRVQDV FEKYNWPNRT VRVFTFSVGQ HNYDVTPLQW MACANKGYYF 
       460        470        480        490        500
EIPSIGAIRI NTQEYLDVLG RPMVLAGKEA KQVQWTNVYE DALGLGLVVT 
       510        520        530        540        550
GTLPVFNLTQ DGPGEKKNQL ILGVMGIDVA LNDIKRLTPN YTLGANGYVF 
       560        570        580        590        600
AIDLNGYVLL HPNLKPQTTN FREPVTLDFL DAELEDENKE EIRRSMIDGN 
       610        620        630        640        650
KGHKQIRTLV KSLDERYIDE VTRNYTWVPI RSTNYSLGLV LPPYSTFYLQ 
       660        670        680        690        700
ANLSDQILQV KLPISKLKDF EFLLPSSFES EGHVFIAPRE YCKDLNASDN 
       710        720        730        740        750
NTEFLKNFIE LMEKVTPDSK QCNNFLLHNL ILDTGITQQL VERVWRDQDL 
       760        770        780        790        800
NTYSLLAVFA ATDGGITRVF PNKAAEDWTE NPEPFNASFY RRSLDNHGYV 
       810        820        830        840        850
FKPPHQDALL RPLELENDTV GILVSTAVEL SLGRRTLRPA VVGVKLDLEA 
       860        870        880        890        900
WAEKFKVLAS NRTHQDQPQK CGPNSHCEMD CEVNNEDLLC VLIDDGGFLV 
       910        920        930        940        950
LSNQNHQWDQ VGRFFSEVDA NLMLALYNNS FYTRKESYDY QAACAPQPPG 
       960        970        980        990       1000
NLGAAPRGVF VPTVADFLNL AWWTSAAAWS LFQQLLYGLI YHSWFQADPA 
      1010       1020       1030       1040       1050
EAEGSPETRE SSCVMKQTQY YFGSVNASYN AIIDCGNCSR LFHAQRLTNT 
      1060       1070       1080       1090       1100
NLLFVVAEKP LCSQCEAGRL LQKETHSDGP EQCELVQRPR YRRGPHICFD 
      1110       1120       1130       1140       1150
YNATEDTSDC GRGASFPPSL GVLVSLQLLL LLGLPPRPQP QVLVHASRRL
Length:1,150
Mass (Da):129,817
Last modified:May 16, 2012 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i502B86A5E6279AA0
GO
Isoform 2 (identifier: Q9NY47-2) [UniParc]FASTAAdd to basket
Also known as: Alpha2delta-2b

The sequence of this isoform differs from the canonical sequence as follows:
     662-669: LPISKLKD → Y

Show »
Length:1,143
Mass (Da):129,085
Checksum:i492556C9919A0CE5
GO
Isoform 3 (identifier: Q9NY47-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     662-669: LPISKLKD → Y
     1076-1077: HS → HCPA

Show »
Length:1,145
Mass (Da):129,269
Checksum:i9ADA4807FC70971B
GO
Isoform 4 (identifier: Q9NY47-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: Missing.
     662-669: LPISKLKD → Y
     1076-1077: HS → HCPA

Show »
Length:1,076
Mass (Da):122,117
Checksum:iEEC474836B7EDA85
GO
Isoform 5 (identifier: Q9NY47-5) [UniParc]FASTAAdd to basket
Also known as: Alpha2delta-2c

The sequence of this isoform differs from the canonical sequence as follows:
     1076-1077: HS → HCPA

Show »
Length:1,152
Mass (Da):130,001
Checksum:i5C1121092C1CE0A6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JE82C9JE82_HUMAN
Voltage-dependent calcium channel s...
CACNA2D2
1,144Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JVC9C9JVC9_HUMAN
Voltage-dependent calcium channel s...
CACNA2D2
1,153Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti663P → R in CAB86193 (PubMed:10762351).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035048138A → V. Corresponds to variant dbSNP:rs35497591Ensembl.1
Natural variantiVAR_083105261P → L in CASVDD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1211603072EnsemblClinVar.1
Natural variantiVAR_057782334E → K. Corresponds to variant dbSNP:rs743855Ensembl.1
Natural variantiVAR_0831061047L → P in CASVDD; impaired regulation of current density and inactivation kinetics of N- and L-type calcium channels. 1 PublicationCorresponds to variant dbSNP:rs587776948EnsemblClinVar.1
Natural variantiVAR_0831071053L → P in CASVDD; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0280581 – 69Missing in isoform 4. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_028059662 – 669LPISKLKD → Y in isoform 2, isoform 3 and isoform 4. 5 Publications8
Alternative sequenceiVSP_0280601076 – 1077HS → HCPA in isoform 3, isoform 4 and isoform 5. 4 Publications2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF042792 mRNA Translation: AAB96913.1
AF042793 mRNA Translation: AAB96914.1
AF040709 mRNA Translation: AAC70914.1
AJ251367 mRNA Translation: CAB86192.1
AJ251368 mRNA Translation: CAB86193.1
AB011130 mRNA Translation: BAA25484.1
AL450422 Genomic DNA No translation available.
Z75742 Genomic DNA No translation available.
Z75743 Genomic DNA No translation available.
Z84492 Genomic DNA No translation available.
Z84494 Genomic DNA No translation available.
Z84495 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65121.1
BC152438 mRNA Translation: AAI52439.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33763.1 [Q9NY47-2]
CCDS54588.1 [Q9NY47-1]
CCDS63647.1 [Q9NY47-3]
CCDS77748.1 [Q9NY47-4]

NCBI Reference Sequences

More...RefSeqi		NP_001005505.1, NM_001005505.2 [Q9NY47-3]
NP_001167522.1, NM_001174051.2 [Q9NY47-1]
NP_001278030.1, NM_001291101.1 [Q9NY47-4]
NP_006021.2, NM_006030.3 [Q9NY47-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000266039; ENSP00000266039; ENSG00000007402 [Q9NY47-3]
ENST00000360963; ENSP00000354228; ENSG00000007402 [Q9NY47-4]
ENST00000424201; ENSP00000390329; ENSG00000007402 [Q9NY47-2]
ENST00000479441; ENSP00000418081; ENSG00000007402 [Q9NY47-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9254

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9254

UCSC genome browser

More...UCSCi		uc003dap.4, human [Q9NY47-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF042792 mRNA Translation: AAB96913.1
AF042793 mRNA Translation: AAB96914.1
AF040709 mRNA Translation: AAC70914.1
AJ251367 mRNA Translation: CAB86192.1
AJ251368 mRNA Translation: CAB86193.1
AB011130 mRNA Translation: BAA25484.1
AL450422 Genomic DNA No translation available.
Z75742 Genomic DNA No translation available.
Z75743 Genomic DNA No translation available.
Z84492 Genomic DNA No translation available.
Z84494 Genomic DNA No translation available.
Z84495 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65121.1
BC152438 mRNA Translation: AAI52439.1
CCDSiCCDS33763.1 [Q9NY47-2]
CCDS54588.1 [Q9NY47-1]
CCDS63647.1 [Q9NY47-3]
CCDS77748.1 [Q9NY47-4]
RefSeqiNP_001005505.1, NM_001005505.2 [Q9NY47-3]
NP_001167522.1, NM_001174051.2 [Q9NY47-1]
NP_001278030.1, NM_001291101.1 [Q9NY47-4]
NP_006021.2, NM_006030.3 [Q9NY47-2]

3D structure databases

SMRiQ9NY47
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114678, 32 interactors
IntActiQ9NY47, 16 interactors
STRINGi9606.ENSP00000418081

Chemistry databases

BindingDBiQ9NY47
ChEMBLiCHEMBL3896
DrugBankiDB01244, Bepridil
DB13746, Bioallethrin
DB11148, Butamben
DB00228, Enflurane
DB00153, Ergocalciferol
DB01023, Felodipine
DB00996, Gabapentin
DB08872, Gabapentin enacarbil
DB00270, Isradipine
DB01054, Nitrendipine
DB00421, Spironolactone
DrugCentraliQ9NY47

Protein family/group databases

TCDBi8.A.18.2.1, the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family

PTM databases

CarbonylDBiQ9NY47
GlyGeniQ9NY47, 6 sites
iPTMnetiQ9NY47
PhosphoSitePlusiQ9NY47

Polymorphism and mutation databases

BioMutaiCACNA2D2
DMDMi387912827

Proteomic databases

jPOSTiQ9NY47
MassIVEiQ9NY47
MaxQBiQ9NY47
PaxDbiQ9NY47
PeptideAtlasiQ9NY47
PRIDEiQ9NY47
ProteomicsDBi83169 [Q9NY47-1]
83170 [Q9NY47-2]
83171 [Q9NY47-3]
83172 [Q9NY47-4]
83173 [Q9NY47-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30959, 149 antibodies

Genome annotation databases

EnsembliENST00000266039; ENSP00000266039; ENSG00000007402 [Q9NY47-3]
ENST00000360963; ENSP00000354228; ENSG00000007402 [Q9NY47-4]
ENST00000424201; ENSP00000390329; ENSG00000007402 [Q9NY47-2]
ENST00000479441; ENSP00000418081; ENSG00000007402 [Q9NY47-1]
GeneIDi9254
KEGGihsa:9254
UCSCiuc003dap.4, human [Q9NY47-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9254
DisGeNETi9254
EuPathDBiHostDB:ENSG00000007402.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		CACNA2D2
HGNCiHGNC:1400, CACNA2D2
HPAiENSG00000007402, Tissue enriched (lung)
MalaCardsiCACNA2D2
MIMi607082, gene
618501, phenotype
neXtProtiNX_Q9NY47
OpenTargetsiENSG00000007402
PharmGKBiPA26012

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2353, Eukaryota
GeneTreeiENSGT00940000156238
HOGENOMiCLU_004660_0_0_1
InParanoidiQ9NY47
OrthoDBi510149at2759
TreeFamiTF315824

Enzyme and pathway databases

PathwayCommonsiQ9NY47
ReactomeiR-HSA-112308, Presynaptic depolarization and calcium channel opening
R-HSA-400042, Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-422356, Regulation of insulin secretion
R-HSA-5576892, Phase 0 - rapid depolarisation
R-HSA-5576893, Phase 2 - plateau phase

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9254, 4 hits in 843 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CACNA2D2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CACNA2D2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9254
PharosiQ9NY47, Tclin

Protein Ontology

More...PROi		PR:Q9NY47
RNActiQ9NY47, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000007402, Expressed in visceral pleura and 201 other tissues
ExpressionAtlasiQ9NY47, baseline and differential
GenevisibleiQ9NY47, HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR013680, VDCC_a2/dsu
IPR013608, VWA_N
IPR002035, VWF_A
IPR036465, vWFA_dom_sf
PfamiView protein in Pfam
PF08473, VGCC_alpha2, 1 hit
PF00092, VWA, 1 hit
PF08399, VWA_N, 1 hit
SMARTiView protein in SMART
SM00327, VWA, 1 hit
SUPFAMiSSF53300, SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234, VWFA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCA2D2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NY47
Secondary accession number(s): A7MD15
, Q9NY48, Q9UEW0, Q9Y268
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 16, 2012
Last modified: December 2, 2020
This is version 143 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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