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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	9254
Gene name	Calcium voltage-gated channel auxiliary subunit alpha2delta 2
Gene symbol	CACNA2D2
Synonyms (NCBI Gene)	CACNA2DCASVDD
Chromosome	3
Chromosome location	3p21.31
Summary	Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, an

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777165	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518420	C>T	Likely-pathogenic	Splice acceptor variant
rs1060503108	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1211603072	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1485894376	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553729881	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553759256	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559884460	GAGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559887808	G>A	Pathogenic	Stop gained, coding sequence variant
rs1575601202	A>C,G	Likely-pathogenic	Splice donor variant
rs1575603683	->T	Pathogenic	Frameshift variant, coding sequence variant

120

Show/Hide all (120)

miRTarBase ID	miRNA	Experiments	Reference
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT453381	hsa-miR-4484	PAR-CLIP	23592263
MIRT453380	hsa-miR-4779	PAR-CLIP	23592263
MIRT453379	hsa-miR-4459	PAR-CLIP	23592263
MIRT453378	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT453377	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT453376	hsa-miR-3153	PAR-CLIP	23592263
MIRT453375	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT453374	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT453373	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT453372	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT453371	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT453370	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT453369	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT453368	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT453367	hsa-miR-6774-5p	PAR-CLIP	23592263
MIRT755800	hsa-miR-423-5p	Luciferase reporter assayqRT-PCRImmunofluorescence	37047559
MIRT857796	hsa-miR-1208	CLIP-seq
MIRT857797	hsa-miR-1225-3p	CLIP-seq
MIRT857798	hsa-miR-1233	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857800	hsa-miR-134	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT857802	hsa-miR-224	CLIP-seq
MIRT857803	hsa-miR-3118	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857805	hsa-miR-3145-3p	CLIP-seq
MIRT857806	hsa-miR-3164	CLIP-seq
MIRT857807	hsa-miR-3189-5p	CLIP-seq
MIRT857808	hsa-miR-3200-5p	CLIP-seq
MIRT857809	hsa-miR-34c-3p	CLIP-seq
MIRT857810	hsa-miR-377	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857812	hsa-miR-4303	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT857814	hsa-miR-4323	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT857816	hsa-miR-4688	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857820	hsa-miR-4768-3p	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857822	hsa-miR-555	CLIP-seq
MIRT857823	hsa-miR-624	CLIP-seq
MIRT857824	hsa-miR-1262	CLIP-seq
MIRT857825	hsa-miR-1273f	CLIP-seq
MIRT857799	hsa-miR-1321	CLIP-seq
MIRT857826	hsa-miR-143	CLIP-seq
MIRT857804	hsa-miR-3126-5p	CLIP-seq
MIRT857827	hsa-miR-3689d	CLIP-seq
MIRT857811	hsa-miR-4291	CLIP-seq
MIRT857828	hsa-miR-4701-3p	CLIP-seq
MIRT857829	hsa-miR-4708-5p	CLIP-seq
MIRT857817	hsa-miR-4728-5p	CLIP-seq
MIRT857818	hsa-miR-4739	CLIP-seq
MIRT857819	hsa-miR-4756-5p	CLIP-seq
MIRT857830	hsa-miR-4770	CLIP-seq
MIRT857821	hsa-miR-545	CLIP-seq
MIRT857831	hsa-miR-576-3p	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT1954731	hsa-miR-3117-5p	CLIP-seq
MIRT1954732	hsa-miR-3174	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT1954734	hsa-miR-409-5p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1954736	hsa-miR-4450	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1954737	hsa-miR-4704-5p	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT1954738	hsa-miR-522	CLIP-seq
MIRT1954739	hsa-miR-539	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1954741	hsa-miR-921	CLIP-seq
MIRT1546043	hsa-miR-1197	CLIP-seq
MIRT2192308	hsa-miR-1207-5p	CLIP-seq
MIRT857801	hsa-miR-185	CLIP-seq
MIRT2192309	hsa-miR-3151	CLIP-seq
MIRT1546044	hsa-miR-3184	CLIP-seq
MIRT1546045	hsa-miR-3614-5p	CLIP-seq
MIRT1954733	hsa-miR-3663-3p	CLIP-seq
MIRT755800	hsa-miR-423-5p	CLIP-seq
MIRT1954735	hsa-miR-4254	CLIP-seq
MIRT857813	hsa-miR-4306	CLIP-seq
MIRT1546046	hsa-miR-432	CLIP-seq
MIRT1546047	hsa-miR-4443	CLIP-seq
MIRT857815	hsa-miR-4644	CLIP-seq
MIRT1546048	hsa-miR-4710	CLIP-seq
MIRT2192310	hsa-miR-4723-5p	CLIP-seq
MIRT2192311	hsa-miR-4763-3p	CLIP-seq
MIRT1954740	hsa-miR-619	CLIP-seq
MIRT1546049	hsa-miR-765	CLIP-seq
MIRT1546050	hsa-miR-890	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence
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:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035265	Process	Organ growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060024	Process	Rhythmic synaptic transmission	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
607082	1400	ENSG00000007402

Q9NY47

Protein name

Voltage-dependent calcium channel subunit alpha-2/delta-2 (Voltage-gated calcium channel subunit alpha-2/delta-2) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2]

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	141 → 265	VWA N-terminal	Family
PF00092	VWA	291 → 464	von Willebrand factor type A domain	Domain
PF08473	VGCC_alpha2	669 → 1111	Neuronal voltage-dependent calcium channel alpha 2acd	Family

Tissue specificity

TISSUE SPECIFICITY: 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

Sequence

MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGAS
AYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVA
GDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVER
GSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRR
QDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAV
QGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEA
KQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPN
YTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQV
KLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSK
QCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTE
NPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA
VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVF
VPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQY
YFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGP
EQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQP
QVLVHASRRL

Sequence length

1150

Interactions

View interactions

1128

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar atrophy with seizures and variable developmental delay	Likely pathogenic; Pathogenic	rs1451909068, rs587777165, rs1477583336, rs1704971986, rs2106640003, rs2106661644, rs2470971793, rs2471029525, rs2471323674, rs1307891196, rs587776948, rs1559887808, rs1575578837, rs1575580823	RCV005635133 RCV000087148 RCV001784064 RCV002052069 RCV002251267 RCV002266762 RCV002285088 RCV002471683 RCV003338166 RCV003447880 RCV001804159 RCV002280138 RCV000789005 RCV000789006
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2106654236, rs1705277912, rs2107204955, rs2107090466, rs1451909068, rs2106702374, rs1378156947, rs1553730120, rs2106640384, rs1553726252, rs2109395463, rs2109411685, rs2109400528, rs2109421369, rs2106664189 View all (32 more)	RCV001378236 RCV001379187 RCV001378899 RCV001387406 RCV001383058 RCV001995497 RCV001966169 RCV001974828 RCV002033451 RCV001915168 RCV002000151 RCV001994775 RCV001876921 RCV001970524 RCV002047477 RCV002021107 RCV001984758 RCV002710661 RCV002828177 RCV002894044 RCV002880352 RCV003014671 RCV003034326 RCV003023792 RCV003049744 RCV003589711 RCV003590663 RCV003589308 RCV003590154 RCV003591096 RCV003590222 RCV003754156 RCV003754222 RCV003754271 RCV003754416 RCV003754523 RCV003754474 RCV003754700 RCV003752675 RCV003858374 RCV000465189 RCV000691480 RCV000701245 RCV000809161 RCV000799128 RCV001051523 RCV001378057 RCV001220876
Epileptic encephalopathy	Likely pathogenic	rs1485894376	RCV000785882

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CACNA2D2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs756092015, rs373171224, rs150832847, rs373700024, rs569543350, rs765130544, rs1708214554, rs1481740871, rs772683542, rs146587089, rs149979955, rs150190044, rs200429466, rs907775113, rs771844125, rs753600233, rs200790128 View all (2 more)	RCV003900490 RCV003958667 RCV003919965 RCV004754364 RCV003920001 RCV003408452 RCV003941792 RCV003946807 RCV003915317 RCV003960037 RCV003942568 RCV004754446 RCV004754515 RCV003918018 RCV003975313 RCV004754572 RCV003928354
Clear cell carcinoma of kidney	Benign; Likely benign	rs201656322	RCV005899603
Familial cancer of breast	Likely benign	rs139125287	RCV005901360
Nonpapillary renal cell carcinoma	Likely benign	rs139125287	RCV005901361
Ovarian serous cystadenocarcinoma	Likely benign	rs139125287	RCV005901362
Uterine corpus endometrial carcinoma	Benign	rs72934824	RCV005923316

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	31402629
Brain Diseases	Associate	24358150, 29997391, 31402629
Breast Neoplasms	Associate	22139571
Breast Neoplasms	Inhibit	33742056
Carcinoma Non Small Cell Lung	Associate	23237220
Cerebellar Diseases	Associate	31402629
Endometrial Neoplasms	Associate	32074080, 37352078
Epilepsy Absence	Associate	20561025
Epileptic Encephalopathy Early Infantile 3	Associate	31402629
Frontotemporal Lobar Degeneration	Associate	40158290
Heredodegenerative Disorders Nervous System	Associate	31402629
Homozygous Familial Hypercholesterolemia	Associate	34052320
Hypertension	Associate	37047559
Lung Neoplasms	Associate	23237220
Maple Syrup Urine Disease	Associate	31235756
Mitochondrial Diseases	Associate	28420414
Neoplasms	Inhibit	22139571
Neoplasms	Associate	25787250, 28420414
Nerve Degeneration	Associate	40158290
Neurodegenerative Diseases	Associate	40158290
Seizures	Associate	31402629
SHORT syndrome	Associate	29016797
Spinocerebellar Degenerations	Associate	31402629
Symphalangism C. S. Lewis Type	Associate	37047559

CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2)