CACNA2D3 (calcium voltage-gated channel auxiliary subunit alpha2delta 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 55799
Gene name Calcium voltage-gated channel auxiliary subunit alpha2delta 3
Gene symbol CACNA2D3
Synonyms (NCBI Gene)
HSA272268
Chromosome 3
Chromosome location 3p21.1-p14.3
Summary This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, a
miRNA miRNA information provided by mirtarbase database.
30
Gene SNPs Other IDs Associated diseases
Show/Hide all (30)
miRTarBase ID miRNA Experiments Reference
MIRT040818 hsa-miR-18a-3p CLASH 23622248
MIRT482888 hsa-miR-6074 PAR-CLIP 23592263
MIRT482887 hsa-miR-4728-3p PAR-CLIP 23592263
MIRT482886 hsa-miR-758-5p PAR-CLIP 23592263
MIRT482885 hsa-miR-664a-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs Other IDs Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA
GO:0005245 Function Voltage-gated calcium channel activity IEA
GO:0005262 Function Calcium channel activity IEA
GO:0005891 Component Voltage-gated calcium channel complex IBA
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
606399 15460 ENSG00000157445
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZS8
Protein name Voltage-dependent calcium channel subunit alpha-2/delta-3 (Voltage-gated calcium channel subunit alpha-2/delta-3) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-3; Voltage-dependent calcium channel subunit delta-3]
Protein 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),
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08399 VWA_N 113 → 229 VWA N-terminal Family
PF13768 VWA_3 255 → 419 von Willebrand factor type A domain Domain
PF08473 VGCC_alpha2 643 → 1068 Neuronal voltage-dependent calcium channel alpha 2acd Family
Tissue specificity TISSUE SPECIFICITY: Only detected in brain. Not present in lung, testis, aorta, spleen, jejunum, ventricular muscle and kidney (at protein level). According to PubMed:11687876, it is brain-specific, while according to PubMed:11245980, it is widely express
Sequence 
MAGPGSPRRASRGASALLAAALLYAALGDVVRSEQQIPLSVVKLWASAFGGEIKSIAAKY
SGSQLLQKKYKEYEKDVAIEEIDGLQLVKKLAKNMEEMFHKKSEAVRRLVEAAEEAHLKH
EFDADLQYEYFNAVLINERDKDGNFLELGKEFILAPNDHFNNLPVNISLSDVQVPTNMYN
KDPAIVNGVYWSESLNKVFVDNFDRDPSLIWQYFGSAKGFFRQYPGIKWEPDENGVIAFD
CRNRKWYIQAATSPKDVVILVDVSGSMKGLRLTIAKQTVSSILDTLGDDDFFNIIAYNEE
LHYVEPCLNGTLVQADRTNKEHFREHLDKLFAKGIGMLDIALNEAFNILSDFNHTGQGSI
CSQAIMLITDGAVDTYDTIFAKYNWPDRKVRIFTYLIGREAAFADNLKWMACANKGFFTQ
ISTLADVQENVMEYLHVLSRPKVIDQEHDVVWTEAYIDSTLPQAQKLTDDQGPVLMTTVA
MPVFSKQNETRSKGILLGVVGTDVPVKELLKTIPKYKLGIHGYAFAITNNGYILTHPELR
LLYEEGKKRRKPNYSSVDLSEVEWEDRDDVLRNAMVNRKTGKFSMEVKKTVDKGKRVLVM
TNDYYYTDIKGTPFSLGVALSRGHGKYFFRGNVTIEEGLHDLEHPDVSLADEWSYCNTDL
HPEHRHLSQLEAIKLYLKGKEPLLQCDKELIQEVLFDAVVSAPIEAYWTSLALNKSENSD
KGVEVAFLGTRTGLSRINLFVGAEQLTNQDFLKAGDKENIFNADHFPLWYRRAAEQIPGS
FVYSIPFSTGPVNKSNVVTASTSIQLLDERKSPVVAAVGIQMKLEFFQRKFWTASRQCAS
LDGKCSISCDDETVNCYLIDNNGFILVSEDYTQTGDFFGEIEGAVMNKLLTMGSFKRITL
YDYQAMCRANKESSDGAHGLLDPYNAFLSAVKWIMTELVLFLVEFNLCSWWHSDMTAKAQ
KLKQTLEPCDTEYPAFVSERTIKETTGNIACEDCSKSFVIQQIPSSNLFMVVVDSSCLCE
SVAPITMAPIEIRYNESLKCERLKAQKIRRRPESCHGFHPEENARECGGAPSLQAQTVLL
LLPLLLMLFSR
Sequence length 1091
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CACNA2D3-related disorder Uncertain significance; Likely benign; Benign rs2470890973, rs368830181, rs2470924201, rs941796977, rs2471135926, rs1235716451, rs373771779, rs1700200246, rs372114533, rs62967361, rs35536476, rs36098777, rs200268240, rs377667754, rs539006808
View all (11 more)		 RCV003402285
RCV003414489
RCV003410564
RCV003393026
RCV003405913
RCV003397836
RCV003921528
RCV003894066
RCV003906841
RCV003911734
RCV003916978
RCV003909362
RCV003911586
RCV003962112
RCV003919414
RCV003937294
RCV003961470
RCV003922178
RCV003926973
RCV003931943
RCV003924714
RCV003981818
RCV003976984
RCV003962059
RCV003976556
RCV003925972
Cervical cancer Benign; Likely benign rs36098777, rs142687394 RCV005936798
RCV005935198
Malignant tumor of urinary bladder Uncertain significance rs185055678 RCV005929055
Nonpapillary renal cell carcinoma Benign rs36098777 RCV005936797
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 33303529
Breast Neoplasms Associate 22644305
Calcinosis Cutis Associate 22644305
Diabetes Mellitus Type 1 Associate 26631741
Diabetes Mellitus Type 2 Associate 37680885
Endometrial Neoplasms Inhibit 31746409
Epilepsy Associate 33441621
Esophageal Squamous Cell Carcinoma Inhibit 23560067
Glioblastoma Associate 25351872
Intracranial Aneurysm Associate 40388745