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.	93589
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium voltage-gated channel auxiliary subunit alpha2delta 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CACNA2D4
Synonyms (NCBI Gene) Gene synonyms aliases	RCD4
Disease Acronyms (UniProt) Disease acronyms from UniProt database	RCD4
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.33
Summary Summary of gene provided in NCBI Entrez Gene.	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(10)

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	12181424
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	12181424
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	17033974
GO:0061337	Process	Cardiac conduction	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IDA	12181424

MIM	HGNC	e!Ensembl
608171	20202	ENSG00000151062

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Cone-rod dystrophy	Cone-Rod Dystrophy 2, Cone rod dystrophy, Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209 View all (207 more)	17033974
Congenital stationary night blindness	Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911 View all (100 more)
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Retinal cone dystrophy	RETINAL CONE DYSTROPHY 4	rs200311463	26560832

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Cone Dystrophy	cone-rod dystrophy	GenCC
Retinal Dystrophy	inherited retinal dystrophy	GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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)