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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	776
Gene name	Calcium voltage-gated channel subunit alpha1 D
Gene symbol	CACNA1D
Synonyms (NCBI Gene)	CACH3CACN4CACNL1A2CCHL1A2Cav1.3PASNASANDD
Chromosome	3
Chromosome location	3p21.1
Summary	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium c

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35874056	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs41276445	C>A,G,T	Likely-pathogenic, pathogenic, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs146747080	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs150266932	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs186968009	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs375811590	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs386834263	G>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs386834264	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs398122827	->GGG	Pathogenic	Inframe insertion, coding sequence variant, intron variant
rs759274321	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1064794938	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553676901	G>C	Likely-pathogenic	Splice donor variant
rs1576484361	A>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT441027	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT441027	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT857554	hsa-miR-134	CLIP-seq
MIRT857555	hsa-miR-190	CLIP-seq
MIRT857556	hsa-miR-190b	CLIP-seq
MIRT857557	hsa-miR-3118	CLIP-seq
MIRT857558	hsa-miR-3136-5p	CLIP-seq
MIRT857559	hsa-miR-3146	CLIP-seq
MIRT857560	hsa-miR-4434	CLIP-seq
MIRT857561	hsa-miR-4439	CLIP-seq
MIRT857562	hsa-miR-4513	CLIP-seq
MIRT857563	hsa-miR-4516	CLIP-seq
MIRT857564	hsa-miR-4771	CLIP-seq
MIRT857565	hsa-miR-4802-3p	CLIP-seq
MIRT1954679	hsa-let-7a	CLIP-seq
MIRT1954680	hsa-let-7b	CLIP-seq
MIRT1954681	hsa-let-7c	CLIP-seq
MIRT1954682	hsa-let-7d	CLIP-seq
MIRT1954683	hsa-let-7e	CLIP-seq
MIRT1954684	hsa-let-7f	CLIP-seq
MIRT1954685	hsa-let-7g	CLIP-seq
MIRT1954686	hsa-let-7i	CLIP-seq
MIRT1954687	hsa-miR-202	CLIP-seq
MIRT1954688	hsa-miR-371b-3p	CLIP-seq
MIRT1954689	hsa-miR-4458	CLIP-seq
MIRT1954690	hsa-miR-4500	CLIP-seq
MIRT1954691	hsa-miR-607	CLIP-seq
MIRT1954692	hsa-miR-98	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	11160515, 18482979, 21131953
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	23913001
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IMP	25620733, 28472301
GO:0005515	Function	Protein binding	IPI	30058071
GO:0005886	Component	Plasma membrane	ISS	21859974
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11160515
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	11160515
GO:0006816	Process	Calcium ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	ISS
GO:0007605	Process	Sensory perception of sound	IMP	21131953
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	1309651
GO:0010959	Process	Regulation of metal ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0023052	Process	Signaling	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030506	Function	Ankyrin binding	ISS	21859974
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0045762	Process	Positive regulation of adenylate cyclase activity	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0051050	Process	Positive regulation of transport	IEA
GO:0051393	Function	Alpha-actinin binding	IPI	17110593
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	1309651
GO:0055085	Process	Transmembrane transport	IEA
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	ISS
GO:0070509	Process	Calcium ion import	IDA	1309651
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	21131953
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	21859974
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IEA
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IC	21859974
GO:0086046	Process	Membrane depolarization during SA node cell action potential	IMP	21131953
GO:0086059	Function	Voltage-gated calcium channel activity involved SA node cell action potential	IMP	21131953
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	21131953
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	ISS
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	1309651

MIM	HGNC	e!Ensembl
114206	1391	ENSG00000157388

Q01668

Protein name

Voltage-dependent L-type calcium channel subunit alpha-1D (Calcium channel, L type, alpha-1 polypeptide, isoform 2) (Voltage-gated calcium channel subunit alpha Cav1.3)

Protein function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio

PDB

3LV3 , 7UHF , 7UHG , 8E59 , 8E5A , 8E5B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	125 → 417	Ion transport protein	Family
PF00520	Ion_trans	522 → 762	Ion transport protein	Family
PF00520	Ion_trans	885 → 1163	Ion transport protein	Family
PF00520	Ion_trans	1204 → 1475	Ion transport protein	Family
PF16905	GPHH	1484 → 1537	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1547 → 1621	Voltage gated calcium channel IQ domain	Domain
PF16885	CAC1F_C	1642 → 1962	Voltage-gated calcium channel subunit alpha, C-term	Family
PF16885	CAC1F_C	1965 → 2160	Voltage-gated calcium channel subunit alpha, C-term	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle. {E

Sequence

MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAA
RQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACI
SIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKI
IAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALR
AFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQC
ITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVS
GEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTI
SSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLF
IIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGG
PSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARK
ESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDM
LVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNS
DFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVA
FFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRL
FRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDN
NQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFA
IVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKI
KTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFK
KRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNH
HNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTW
SRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRR
SSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRS
WATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPAS
LTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITT
L

Sequence length

2161

Interactions

View interactions

262

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aldosterone-producing adenoma with seizures and neurological abnormalities	Pathogenic; Likely pathogenic	rs2473767486, rs386834264, rs41276445	RCV002291158 RCV000056307 RCV000056308
Congenital disorder of glycosylation, type Iw, autosomal dominant	Pathogenic	rs2473767558	RCV003493390
See cases	Likely pathogenic; Pathogenic	rs777591848, rs2473100343	RCV001420265 RCV003156168
Sinoatrial node dysfunction and deafness	Pathogenic; Likely pathogenic	rs398122827, rs1576484361	RCV000032914 RCV000987279

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs55797424, rs56101638	RCV005922301 RCV005923660
Autism spectrum disorder	Likely benign	rs2473878923	RCV003127329
CACNA1D-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs184573217, rs147973409, rs201819347, rs368260280, rs2108327394, rs1233357713, rs200258942, rs779597807, rs201969994, rs371126105, rs761725496, rs201768852, rs751284609, rs139767790, rs2095011675 View all (51 more)	RCV004738340 RCV004536196 RCV004542035 RCV004536259 RCV001825029 RCV004538696 RCV004542159 RCV004538622 RCV004538595 RCV004529077 RCV004531383 RCV004531315 RCV004531528 RCV004531410 RCV004738583 RCV004738682 RCV004534137 RCV004534151 RCV004545360 RCV004725339 RCV004545362 RCV004534157 RCV004545376 RCV004530268 RCV004530284 RCV004530286 RCV004532753 RCV004530265 RCV004530285 RCV004530266 RCV004530287 RCV004530267 RCV004527963 RCV004528697 RCV004528608 RCV004528616 RCV004531660 RCV004534308 RCV004536723 RCV004529285 RCV004527981 RCV004738760 RCV004738761 RCV004736683 RCV004532057 RCV004540955 RCV004534506 RCV004545547 RCV004736692 RCV004543356 RCV004543367 RCV004543397 RCV004530741 RCV004543398 RCV004530736 RCV004543399 RCV004544776 RCV004528318 RCV004538139 RCV004538163 RCV004541932 RCV004541916 RCV004531051 RCV004738085 RCV004543507 RCV004536001
CACNA1D-related neurodevelopmental and endocrine disorders	Uncertain significance	rs2094255562	RCV001270764
Cholangiocarcinoma	Benign	rs56101638	RCV005923664
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity; Uncertain significance	rs147146258, rs201775251	RCV005625701 RCV005626189
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	rs141581705	RCV005626501
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2474191157	RCV004558093
Familial cancer of breast	Likely benign	rs555638208	RCV005925837
Gastric cancer	Benign; Likely benign	rs56101638, rs72556355	RCV005923663 RCV005895007
Hearing impairment	Conflicting classifications of pathogenicity; Uncertain significance	rs747136766, rs1183389331, rs777098313, rs199761259	RCV001375475 RCV001375421 RCV001375248 RCV001375104
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs952695177, rs35090700, rs147146258, rs765353117, rs2095048446, rs2095400961, rs779483775, rs755763353	RCV005626783 RCV001251928 RCV001251924 RCV001251925 RCV001251926 RCV001251930 RCV001251927 RCV001251929
Long QT syndrome	Uncertain significance	rs375782771	RCV006272473
Lung cancer	Benign; Likely benign	rs146730044	RCV005901873
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance	rs138827084, rs56101638, rs2473798563	RCV005919144 RCV005923661 RCV005931096
Meniere disease	Uncertain significance	rs148674323, rs2474546339	RCV004572831 RCV004573514
Prostate cancer	Uncertain significance	rs193920795	RCV000149005
Sarcoma	Benign	rs56101638	RCV005923662
Skeletal dysplasia	Uncertain significance	rs753066458	RCV005626826
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs41276445	RCV005899617
Uterine corpus endometrial carcinoma	Benign	rs56101638	RCV005923665
VATER association	Benign; Likely benign	rs200101586	RCV005626598

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
ACTH Secreting Pituitary Adenoma	Associate	26743443
Adenocarcinoma Clear Cell	Associate	37697729
Adenocarcinoma of Lung	Associate	34111567
Adenoma	Associate	24866132
Adrenal Hyperplasia Congenital	Associate	34232123
Adrenocortical Adenoma	Associate	26765578, 31789380
Arrhythmias Cardiac	Associate	39551029
Attention Deficit Disorder with Hyperactivity	Associate	36430690
Autism Spectrum Disorder	Associate	25620733, 28472301, 30465465, 31838722, 31921405, 35220405, 35453044, 38553610
Autistic Disorder	Associate	25620733, 28472301, 31921405, 36430690
Bipolar Disorder	Associate	25730879
Carcinogenesis	Associate	34111567
Cardiac Conduction System Disease	Associate	39551029
Cerebral Palsy	Associate	40243517
Channelopathies	Associate	35453044, 36208199
Colorectal Neoplasms	Associate	29079724
Congenital Hyperinsulinism	Associate	32336187, 35453044
Cushing Syndrome	Associate	26743443
Deafness	Associate	36430690
Developmental Disabilities	Associate	30054272, 30465465, 31921405, 35453044, 36208199
Diabetes Mellitus	Associate	39273144
Diabetes Mellitus Type 1	Associate	30543678
Diabetes Mellitus Type 2	Associate	39273144
Down Syndrome	Associate	27293319
Dyslipidemias	Associate	30365130
Endocrine System Diseases	Associate	31921405, 36208199, 38553610
Endometriosis	Associate	31909458
Epilepsies Partial	Associate	36430690
Epilepsy	Associate	28472301, 30054272, 36430690
Epilepsy Idiopathic Generalized	Associate	36430690
Familial Hyperaldosteronism	Associate	27729216, 37846579
Genetic Diseases Inborn	Associate	34232123
Hearing Loss	Associate	30054272
Hearing Loss Unilateral	Associate	40302475
Heart Defects Congenital	Associate	28318089
Herpes Zoster	Associate	27098837
Hyperaldosteronism	Associate	23913001, 24866132, 25253161, 25906099, 25958045, 26252618, 26351028, 26743443, 26807823, 27098837, 27729216, 30085035, 30354720, 30465465, 30739536 View all (10 more)
Hyperplasia	Associate	26252618, 28388725
Hypertension	Associate	19225208, 34593835, 37846579
Hypoglycemia	Associate	36208199
Hypothalamic hamartomas	Associate	18076645
Inflammation	Associate	26990456
Intellectual Disability	Associate	25620733, 28472301, 32336187, 36430690
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	23651669
Lymphedema	Associate	28318089
Lymphoma Large B Cell Diffuse	Associate	27835906
Mental Disorders	Associate	35220405
Muscle Hypotonia	Associate	28318089, 32336187
Myopia	Associate	27611182
Neoplasms	Associate	22904677, 26404961, 27196083, 27716384, 31000732, 37697729
Neurodegenerative Diseases	Associate	25173401, 40244042
Neurologic Manifestations	Associate	25620733, 28472301, 38553610
Neuromuscular Diseases	Associate	28318089
Parkinson Disease	Stimulate	25173401
Parkinson Disease	Associate	31199560, 36350063, 40244042
Prostatic Neoplasms	Associate	26404961, 26990456
Prostatic Neoplasms	Stimulate	36949059
Prostatic Neoplasms Castration Resistant	Associate	26990456
Schizophrenia	Associate	35220405
Seizures	Associate	25620733, 28472301
Sick Sinus Syndrome	Associate	36430690
Sick Sinus Syndrome 2 Autosomal Dominant	Associate	36430690
Signs and Symptoms	Associate	32336187
Sinoatrial Block	Associate	30498240, 39551029
Stomach Neoplasms	Associate	36484990
Tachycardia Ventricular	Associate	39551029
Tuberous Sclerosis	Associate	34417327
Vascular Malformations	Associate	27716384

CACNA1D (calcium voltage-gated channel subunit alpha1 D)