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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	93589
Gene name	Calcium voltage-gated channel auxiliary subunit alpha2delta 4
Gene symbol	CACNA2D4
Synonyms (NCBI Gene)	RCD4
Chromosome	12
Chromosome location	12p13.33
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

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs71454844	G>A,T	Likely-pathogenic, uncertain-significance	Synonymous variant, stop gained, coding sequence variant
rs76064926	C>T	Benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs77175207	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs199888783	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs200098356	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs201783863	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1210621191	GCCCAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017574	hsa-miR-335-5p	Microarray	18185580
MIRT449485	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT449484	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT449485	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT449484	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT857832	hsa-miR-1179	CLIP-seq
MIRT857833	hsa-miR-320e	CLIP-seq
MIRT857834	hsa-miR-3945	CLIP-seq
MIRT857835	hsa-miR-4252	CLIP-seq
MIRT857836	hsa-miR-4259	CLIP-seq
MIRT857837	hsa-miR-4260	CLIP-seq
MIRT857838	hsa-miR-4715-5p	CLIP-seq
MIRT857839	hsa-miR-4727-5p	CLIP-seq
MIRT857840	hsa-miR-4769-3p	CLIP-seq
MIRT857841	hsa-miR-4778-5p	CLIP-seq
MIRT857842	hsa-miR-486-3p	CLIP-seq
MIRT1954742	hsa-miR-1294	CLIP-seq
MIRT1954743	hsa-miR-4316	CLIP-seq
MIRT1954744	hsa-miR-4675	CLIP-seq
MIRT1954745	hsa-miR-4687-3p	CLIP-seq
MIRT1954746	hsa-miR-4741	CLIP-seq
MIRT1954747	hsa-miR-5096	CLIP-seq
MIRT2192313	hsa-miR-15a	CLIP-seq
MIRT2192314	hsa-miR-15b	CLIP-seq
MIRT2192315	hsa-miR-16	CLIP-seq
MIRT2192316	hsa-miR-195	CLIP-seq
MIRT2192317	hsa-miR-3144-5p	CLIP-seq
MIRT2192318	hsa-miR-3191	CLIP-seq
MIRT2192319	hsa-miR-3913-3p	CLIP-seq
MIRT857834	hsa-miR-3945	CLIP-seq
MIRT2192320	hsa-miR-424	CLIP-seq
MIRT857836	hsa-miR-4259	CLIP-seq
MIRT857837	hsa-miR-4260	CLIP-seq
MIRT2192321	hsa-miR-4524	CLIP-seq
MIRT2192322	hsa-miR-4652-5p	CLIP-seq
MIRT857838	hsa-miR-4715-5p	CLIP-seq
MIRT2192323	hsa-miR-4747-5p	CLIP-seq
MIRT857842	hsa-miR-486-3p	CLIP-seq
MIRT2192324	hsa-miR-497	CLIP-seq
MIRT2192325	hsa-miR-499-3p	CLIP-seq
MIRT2192326	hsa-miR-499a-3p	CLIP-seq
MIRT2192327	hsa-miR-503	CLIP-seq
MIRT2192328	hsa-miR-646	CLIP-seq
MIRT857834	hsa-miR-3945	CLIP-seq
MIRT857836	hsa-miR-4259	CLIP-seq
MIRT857837	hsa-miR-4260	CLIP-seq
MIRT857838	hsa-miR-4715-5p	CLIP-seq
MIRT857842	hsa-miR-486-3p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	12181424
GO:0005262	Function	Calcium channel activity	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	12181424
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	17033974
GO:0070588	Process	Calcium ion transmembrane transport	IDA	12181424
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
608171	20202	ENSG00000151062

Q7Z3S7

Protein name

Voltage-dependent calcium channel subunit alpha-2/delta-4 (Voltage-gated calcium channel subunit alpha-2/delta-4) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-4; Voltage-dependent calcium channel subunit delta-4]

Protein function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08399	VWA_N	148 → 264	VWA N-terminal	Family
PF13768	VWA_3	290 → 455	von Willebrand factor type A domain	Domain
PF08473	VGCC_alpha2	681 → 1110	Neuronal voltage-dependent calcium channel alpha 2acd	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the

Sequence

MVCGCSALLPLPNPRPTMPATPNFLANPSSSSRWIPLQPMPVAWAFVQKTSALLWLLLLG
TSLSPAWGQAKIPLETVKLWADTFGGDLYNTVTKYSGSLLLQKKYKDVESSLKIEEVDGL
ELVRKFSEDMENMLRRKVEAVQNLVEAAEEADLNHEFNESLVFDYYNSVLINERDEKGNF
VELGAEFLLESNAHFSNLPVNTSISSVQLPTNVYNKDPDILNGVYMSEALNAVFVENFQR
DPTLTWQYFGSATGFFRIYPGIKWTPDENGVITFDCRNRGWYIQAATSPKDIVILVDVSG
SMKGLRMTIAKHTITTILDTLGENDFINIIAYNDYVHYIEPCFKGILVQADRDNREHFKL
LVEELMVKGVGVVDQALREAFQILKQFQEAKQGSLCNQAIMLISDGAVEDYEPVFEKYNW
PDCKVRVFTYLIGREVSFADRMKWIACNNKGYYTQISTLADTQENVMEYLHVLSRPMVIN
HDHDIIWTEAYMDSKLLSSQAQSLTLLTTVAMPVFSKKNETRSHGILLGVVGSDVALREL
MKLAPRYKLGVHGYAFLNTNNGYILSHPDLRPLYREGKKLKPKPNYNSVDLSEVEWEDQA
ESLRTAMINRETGTLSMDVKVPMDKGKRVLFLTNDYFFTDISDTPFSLGVVLSRGHGEYI
LLGNTSVEEGLHDLLHPDLALAGDWIYCITDIDPDHRKLSQLEAMIRFLTRKDPDLECDE
ELVREVLFDAVVTAPMEAYWTALALNMSEESEHVVDMAFLGTRAGLLRSSLFVGSEKVSD
RKFLTPEDEASVFTLDRFPLWYRQASEHPAGSFVFNLRWAEGPESAGEPMVVTASTAVAV
TVDKRTAIAAAAGVQMKLEFLQRKFWAATRQCSTVDGPCTQSCEDSDLDCFVIDNNGFIL
ISKRSRETGRFLGEVDGAVLTQLLSMGVFSQVTMYDYQAMCKPSSHHHSAAQPLVSPISA
FLTATRWLLQELVLFLLEWSVWGSWYDRGAEAKSVFHHSHKHKKQDPLQPCDTEYPVFVY
QPAIREANGIVECGPCQKVFVVQQIPNSNLLLLVTDPTCDCSIFPPVLQEATEVKYNASV
KCDRMRSQKLRRRPDSCHAFHPEENAQDCGGASDTSASPPLLLLPVCAWGLLPQLLR

Sequence length

1137

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		Phase 0 - rapid depolarisation Phase 2 - plateau phase

261

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the eye	Conflicting classifications of pathogenicity	rs200098356	RCV000505096
Acute myeloid leukemia	Benign; Likely benign	rs62621429, rs185220718	RCV005894327 RCV005907254
CACNA2D4-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs183421147, rs528359746, rs1467198397, rs199688605, rs2154444903, rs71454844, rs184770223, rs748837115, rs572396211, rs374502921, rs765062687, rs11062013, rs375018727, rs759653968, rs145150489 View all (7 more)	RCV003973240 RCV003966042 RCV003908772 RCV003956166 RCV003971167 RCV004755701 RCV003917643 RCV003943453 RCV003395499 RCV004756413 RCV003909158 RCV003950044 RCV003949802 RCV003961950 RCV003920273 RCV003920274 RCV003920275 RCV003910134 RCV003905675 RCV004756088 RCV003933149 RCV003933139 RCV003918696
CACNA2D4-related retinopathy	Conflicting classifications of pathogenicity	rs200098356	RCV005361101
Cervical cancer	Benign	rs62621429, rs1044825	RCV005894328 RCV005893077
Colon adenocarcinoma	Benign	rs62621429	RCV005894326
Cone dystrophy 3	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs10735005, rs371916321, rs3214264, rs886049120, rs886049131, rs372942250, rs200563551, rs77487055, rs57667551, rs760300917, rs76064926	RCV000365597 RCV000332597 RCV000287651 RCV000305592 RCV000388654 RCV000274230 RCV000277857 RCV000315556 RCV000377957 RCV000365653 RCV000404928
Cone-rod dystrophy 6	Conflicting classifications of pathogenicity	rs931193038	RCV005863351
Familial cancer of breast	Conflicting classifications of pathogenicity	rs201325274	RCV005900089
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs1044825, rs201325274	RCV005893079 RCV005900090
Hepatocellular carcinoma	Likely benign	rs779248650	RCV005911135
Lung cancer	Likely benign; Benign	rs779248650, rs62621429	RCV005911136 RCV005894333
Melanoma	Benign	rs62621429	RCV005894332
Optic atrophy	Uncertain significance	rs972139903, rs767999612	RCV004816935 RCV004813780
Progressive cone dystrophy (without rod involvement)	Benign	rs76064926	RCV000787804
Retinal cone dystrophy 4	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs142964907, rs202022529, rs55971855, rs186998620, rs76224631, rs33972365, rs2286377, rs58188909, rs7137553, rs7138458, rs7137876, rs10848582, rs2370057, rs2429184, rs10774003 View all (161 more)	RCV001780249 RCV000339015 RCV001110021 RCV000319872 RCV000259326 RCV000324502 RCV001544465 RCV001544108 RCV001544109 RCV001544110 RCV001544111 RCV001544112 RCV001544113 RCV001544114 RCV001544115 RCV001544116 RCV001544117 RCV001544118 RCV001544119 RCV001780711 RCV005361913 RCV000002610 RCV000314572 RCV000267819 RCV000297180 RCV000345046 RCV001114150 RCV000356296 RCV000335652 RCV000387209 RCV000190570 RCV000292935 RCV000395655 RCV000371354 RCV000392427 RCV000356503 RCV000320534 RCV000328823 RCV000352307 RCV000293999 RCV000265387 RCV001094108 RCV000330509 RCV000338920 RCV000357663 RCV000298474 RCV000377757 RCV000373502 RCV000353493 RCV000323317 RCV000382138 RCV000406636 RCV000406145 RCV000302077 RCV000271487 RCV000362792 RCV000374561 RCV000285700 RCV000405742 RCV000295097 RCV000385980 RCV000393091 RCV000335713 RCV000387312 RCV000281490 RCV000372442 RCV000280301 RCV000302220 RCV000310681 RCV000259408 RCV000323929 RCV000284007 RCV000351436 RCV000298735 RCV000293381 RCV000348343 RCV000278287 RCV000392078 RCV000286435 RCV000308683 RCV000263782 RCV000373242 RCV000346664 RCV000288307 RCV000381172 RCV000305345 RCV000308626 RCV000268749 RCV000341875 RCV000390784 RCV000384172 RCV000345763 RCV000404032 RCV000311977 RCV000268146 RCV000264768 RCV000329241 RCV000351900 RCV000387767 RCV000299271 RCV000335903 RCV000265689 RCV000625484 RCV000401891 RCV000331906 RCV000625487 RCV000360300 RCV000271580 RCV000405668 RCV000326188 RCV000392012 RCV000378473 RCV000338944 RCV000290833 RCV000405454 RCV000357443 RCV000262241 RCV000360359 RCV000366080 RCV000277564 RCV000314323 RCV000316662 RCV000376699 RCV000366946 RCV001094087 RCV000337339 RCV000340770 RCV001110110 RCV000625485 RCV000625486 RCV005632142 RCV001112948 RCV001112869 RCV001110802 RCV001112950 RCV001110108 RCV001110945 RCV001535672 RCV001110944 RCV001196982 RCV001110635 RCV001110636 RCV001112617 RCV001112618 RCV001113965 RCV001109924 RCV001110718 RCV001112701 RCV001114057 RCV001110800 RCV001110801 RCV001112792 RCV001112794 RCV001112795 RCV001114148 RCV001114149 RCV001110872 RCV001112871 RCV001114228 RCV001110193 RCV001110943 RCV001110946 RCV001112947 RCV001112949 RCV001112951 RCV001114304 RCV001114305 RCV001114306 RCV001114307 RCV001110290 RCV001110291 RCV001114056 RCV001112793 RCV001114147 RCV001110109 RCV001112870 RCV001114229 RCV001114230 RCV001110194 RCV001110195 RCV001196796 RCV005359940
Retinal disorder	Uncertain significance	rs767255782	RCV006446123
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs920314861, rs373032354, rs749463003, rs771911683, rs200480596, rs756604812, rs375148197, rs374471043, rs553620421, rs759766082, rs931193038, rs371792930, rs376351407, rs374475309	RCV004815410 RCV004815685 RCV004816928 RCV004816792 RCV004816951 RCV004813645 RCV004813712 RCV001074111 RCV001074922 RCV001074112 RCV001074920 RCV004813779 RCV004813936 RCV004813948
Retinitis pigmentosa	Conflicting classifications of pathogenicity	rs772592088	RCV001199449
Sarcoma	Benign	rs62621429, rs1044825	RCV005894329 RCV005893078
Thymoma	Benign	rs62621429	RCV005894330
Thyroid cancer, nonmedullary, 1	Benign	rs62621429	RCV005894331

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agnosia	Associate	37672513
Atrial Fibrillation	Associate	24727801
Colorectal Neoplasms	Associate	31510946
Diabetes Gestational	Associate	35721735
Hypocalcemia	Associate	31510946
Neoplasms Adipose Tissue	Associate	32122382
Night blindness congenital stationary	Associate	19578023
Pituitary Neoplasms	Associate	32224525, 33168897
Primary Myelofibrosis	Associate	23733509
Prostatic Neoplasms	Associate	36178085
Retinal Dystrophies	Associate	34996991

CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4)