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CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
781
Gene nameGene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit alpha2delta 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CACNA2D1
SynonymsGene synonyms aliases
CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.11
SummarySummary 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 polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT001474 hsa-miR-16-5p pSILAC, Proteomics;Other 18668040
MIRT023627 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT713919 hsa-miR-4642 HITS-CLIP 19536157
MIRT713920 hsa-miR-5588-5p HITS-CLIP 19536157
MIRT713921 hsa-miR-4799-3p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA 21873635
GO:0005245 Function Voltage-gated calcium channel activity IDA 1309651
GO:0005245 Function Voltage-gated calcium channel activity IDA 11160515, 17224476
GO:0005245 Function Voltage-gated calcium channel activity IGI 21883149
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
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. Plays an important role in excitation-contraction coupling (By similarity).
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
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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