Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE110
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

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

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
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT1954730	hsa-miR-409-3p	CLIP-seq
MIRT2192293	hsa-miR-1182	CLIP-seq
MIRT2192294	hsa-miR-1207-5p	CLIP-seq
MIRT2192295	hsa-miR-1271	CLIP-seq
MIRT2192296	hsa-miR-182	CLIP-seq
MIRT2192297	hsa-miR-2052	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2192299	hsa-miR-4307	CLIP-seq
MIRT2192300	hsa-miR-4653-3p	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192303	hsa-miR-4736	CLIP-seq
MIRT2192304	hsa-miR-4763-3p	CLIP-seq
MIRT2192305	hsa-miR-516b	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2192307	hsa-miR-96	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2436035	hsa-miR-4266	CLIP-seq
MIRT2436036	hsa-miR-4294	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2495656	hsa-miR-3591-5p	CLIP-seq

Show/Hide all(28)

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
GO:0005891	Component	Voltage-gated calcium channel complex	IBA	21873635
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11160515, 17224476
GO:0006816	Process	Calcium ion transport	IDA	1309651, 11160515
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051924	Process	Regulation of calcium ion transport	IDA	1309651
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	25527503
GO:0060402	Process	Calcium ion transport into cytosol	ISS	25527503
GO:0061337	Process	Cardiac conduction	TAS
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	25527503
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	25527503
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	17224476
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	21383000
GO:0086057	Function	Voltage-gated calcium channel activity involved in bundle of His cell action potential	IMP	21383000
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	25527503
GO:0098703	Process	Calcium ion import across plasma membrane	ISS
GO:0098903	Process	Regulation of membrane repolarization during action potential	ISS	25527503
GO:1901843	Process	Positive regulation of high voltage-gated calcium channel activity	ISS	25527503
GO:1902514	Process	Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI	21883149
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:1990454	Component	L-type voltage-gated calcium channel complex	IBA	21873635
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	1309651

MIM	HGNC	e!Ensembl
114204	1399	ENSG00000153956

Protein

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

	KEGG		Reactome
	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Oxytocin signaling pathway Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy		Presynaptic depolarization and calcium channel opening Phase 0 - rapid depolarisation Phase 2 - plateau phase

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557 View all (6 more)
Atrioventricular block	Atrioventricular Block, First degree atrioventricular block	rs766840243, rs763809932
Brugada syndrome	Brugada Syndrome (disorder), Brugada Syndrome 1, Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776 View all (97 more)	24309898, 20817017, 19429829, 25527503, 17224476, 16301704
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	15059925
Hypertension	Hypertensive disease	rs13306026	22949532
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Short qt syndrome	Short QT Syndrome 1, Familial short QT syndrome	rs104894584, rs121912504, rs121912507, rs104894021, rs199472720, rs199472687, rs199472837, rs199473490, rs199473428, rs199473524, rs199472947, rs199472851, rs786205817, rs876661184, rs1057519584	21383000
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Uveal melanoma	Uveal melanoma	rs1559588632	31626034
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Show/Hide Unknown Diseases (11)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Unipolar Depression, Major Depressive Disorder		26845276, 29317602	ClinVar
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC
Epileptic encephalopathy	developmental and epileptic encephalopathy 110			GenCC
Short QT Syndrome	short QT syndrome			GenCC
Brugada Syndrome	Brugada syndrome 1			GenCC
Mental Depression	Mental Depression			GWAS
Crohn Disease	Crohn Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Multiple myeloma	Multiple myeloma	MM cells lacking PSMC6 also developed resistance against Carfilzomib (CAR)		GWAS, CBGDA
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Endometrial Neoplasms	Associate	36231119
Epilepsy	Associate	25074461
Epilepsy Rolandic	Associate	29789371
Heart Diseases	Associate	39354346
Intellectual Disability	Associate	25074461
Laryngeal Neoplasms	Associate	31725046
Lymphoma T Cell Peripheral	Associate	26536348
Malignant Hyperthermia	Associate	8707301
Neoplasms	Associate	26420065
Neuroma Acoustic	Associate	31146115
Obesity	Associate	25074461
Polypoidal Choroidal Vasculopathy	Associate	29789371
Progeria	Associate	34298947
Schizophrenia	Associate	25074461
Short QT Syndrome 1	Associate	21383000
Squamous Cell Carcinoma of Head and Neck	Associate	31725046
Tobacco Use Disorder	Associate	36104591
Ventricular Fibrillation	Associate	21383000
Williams Syndrome	Associate	8707301

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