CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
781
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit alpha2delta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNA2D1
Synonyms (NCBI Gene) Gene synonyms aliases
CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.11
Summary Summary of gene provided in NCBI Entrez Gene.
The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarizat
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs191213592 A>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1554338713 ATTGTCTCTTCTAGTT>- Likely-pathogenic Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(42)
miRTarBase ID miRNA Experiments Reference
MIRT001474 hsa-miR-16-5p pSILAC 18668040
MIRT023627 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT001474 hsa-miR-16-5p Proteomics;Other 18668040
MIRT717867 hsa-miR-6814-5p HITS-CLIP 19536157
MIRT717866 hsa-miR-4446-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(39)
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA
GO:0005245 Function Voltage-gated calcium channel activity IDA 11160515, 17224476
GO:0005245 Function Voltage-gated calcium channel activity IDA 1309651
GO:0005245 Function Voltage-gated calcium channel activity IGI 21883149
GO:0005262 Function Calcium channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
114204 1399 ENSG00000153956
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P54289
Protein name Voltage-dependent calcium channel subunit alpha-2/delta-1 (Voltage-gated calcium channel subunit alpha-2/delta-1) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-1; Voltage-dependent calcium channel subunit delta-1]
Protein function The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By simil
PDB 7MIX , 7MIY , 7UHF , 7UHG , 7VFS , 7VFU , 7VFV , 7VFW , 7XLQ , 7YG5 , 8E59 , 8E5A , 8E5B , 8EPL , 8EPM , 8FHS , 8HLP , 8HMA , 8HMB , 8IF3 , 8IF4 , 8WE6 , 8WE7 , 8WE8 , 8WE9 , 8WEA , 8X90 , 8X91 , 8X93
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08399 VWA_N 104 → 223 VWA N-terminal Family
PF00092 VWA 253 → 425 von Willebrand factor type A domain Domain
PF08473 VGCC_alpha2 644 → 1072 Neuronal voltage-dependent calcium channel alpha 2acd Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta. {E
Sequence 
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTIN
LRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYI
DKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTF
IAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYW
SKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYF
NKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCD
CKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDY
QSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEM
EDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVES
KGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPS
LWYIIGIQFLLLWLVSGSTHRLL
Sequence length 1103
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (11)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Brugada Syndrome brugada syndrome, Brugada syndrome 1, brugada syndrome 1 N/A N/A ClinVar, GenCC
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease (need for surgery) N/A N/A GWAS
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy N/A N/A GenCC
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 39354346
Autistic Disorder Associate 25074461
Bipolar Disorder Associate 24882193
Carcinoma Hepatocellular Associate 26420065
Chest Pain Associate 39354346
Coronary Disease Associate 37679988
COVID 19 Associate 36104591
Death Sudden Cardiac Associate 39354346
Drug Related Side Effects and Adverse Reactions Associate 19129090
Electric Injuries Associate 39354346