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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8912
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium voltage-gated channel subunit alpha1 H
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CACNA1H
Synonyms (NCBI Gene) Gene synonyms aliases	CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a T-type member of the alpha-1 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,

Show/Hide all(24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3751664	C>A,T	Benign, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs57315342	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs58173258	G>A	Risk-factor, benign	Non coding transcript variant, missense variant, coding sequence variant
rs60040113	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs60734921	C>T	Risk-factor, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs119454947	C>A,G,T	Risk-factor	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs119454948	G>A,T	Risk-factor	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs119454949	G>A	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs201651793	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201911360	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs267606697	G>A	Likely-benign, risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs368976749	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs370039255	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs373830807	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs377112179	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs749735503	G>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs767983680	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs771718484	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs775271588	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs786205050	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518033	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064793076	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs1437449624	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555510028	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments
MIRT857734	hsa-miR-3140-5p	CLIP-seq
MIRT857735	hsa-miR-4680-3p	CLIP-seq
MIRT857736	hsa-miR-490-3p	CLIP-seq
MIRT857737	hsa-miR-649	CLIP-seq
MIRT1954703	hsa-miR-1293	CLIP-seq
MIRT1954704	hsa-miR-191	CLIP-seq
MIRT1954705	hsa-miR-4483	CLIP-seq
MIRT1954706	hsa-miR-4493	CLIP-seq
MIRT1954707	hsa-miR-4646-5p	CLIP-seq
MIRT1954708	hsa-miR-4747-3p	CLIP-seq
MIRT1954709	hsa-miR-4747-5p	CLIP-seq
MIRT1954703	hsa-miR-1293	CLIP-seq
MIRT2192272	hsa-miR-3179	CLIP-seq
MIRT2192273	hsa-miR-3202	CLIP-seq
MIRT2192274	hsa-miR-3652	CLIP-seq
MIRT2192275	hsa-miR-4430	CLIP-seq
MIRT1954705	hsa-miR-4483	CLIP-seq
MIRT2192276	hsa-miR-4505	CLIP-seq
MIRT2192277	hsa-miR-4533	CLIP-seq
MIRT2192278	hsa-miR-4638-5p	CLIP-seq
MIRT2192279	hsa-miR-4707-3p	CLIP-seq
MIRT2192280	hsa-miR-4793-5p	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
EGR1	Unknown	22431737
REST	Unknown	22431737

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	IDA	27149520
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	9930755
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	24277868, 25907736, 27729216
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27149520
GO:0005886	Component	Plasma membrane	IDA	27149520
GO:0005886	Component	Plasma membrane	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:0005891	Component	Voltage-gated calcium channel complex	TAS	10861024
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006936	Process	Muscle contraction	TAS	9670923
GO:0007517	Process	Muscle organ development	NAS	9670923
GO:0007520	Process	Myoblast fusion	TAS	10861024
GO:0008016	Process	Regulation of heart contraction	TAS	9670923
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008332	Function	Low voltage-gated calcium channel activity	IDA	21084288
GO:0008332	Function	Low voltage-gated calcium channel activity	TAS	10861024
GO:0016020	Component	Membrane	IDA	21084288
GO:0016020	Component	Membrane	IEA
GO:0032342	Process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Process	Cellular response to hormone stimulus	IEP	19342457
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034651	Process	Cortisol biosynthetic process	IMP	19342457
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070509	Process	Calcium ion import	IDA	21084288
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	21084288
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	27149520
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:2000344	Process	Positive regulation of acrosome reaction	IMP	20394732

MIM	HGNC	e!Ensembl
607904	1395	ENSG00000196557

Protein

UniProt ID

O95180

Protein name

Voltage-dependent T-type calcium channel subunit alpha-1H (Low-voltage-activated calcium channel alpha1 3.2 subunit) (Voltage-gated calcium channel subunit alpha Cav3.2)

Protein function

Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a vo

PDB

9AYG , 9AYH , 9AYJ , 9AYK , 9AYL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	99 → 430	Ion transport protein	Family
PF00520	Ion_trans	792 → 1025	Ion transport protein	Family
PF00520	Ion_trans	1293 → 1566	Ion transport protein	Family
PF00520	Ion_trans	1616 → 1871	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216). In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, c

Sequence

MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGA
ELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMF
RPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVV
AGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFV
FFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAIN
FDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYA
RWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPG
PEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI
PHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESG
DSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWV
TFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSL
LWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQA
EGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCT
AATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSS
RRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDP
GSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIV
VAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAF
FIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHK
CRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLD
LFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLD
TVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLM
KHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVS
VSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQ
IPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEP
GEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAEL
GSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRT
PSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDP
FLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPS
ATPAPGGGADDPV

Sequence length

2353

Interactions

View interactions

	KEGG
	MAPK signaling pathway Calcium signaling pathway Circadian entrainment Aldosterone synthesis and secretion Cortisol synthesis and secretion GnRH secretion Cushing syndrome

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hyperaldosteronism	hyperaldosteronism, familial, type iv	rs786205050	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Epilepsy	Epilepsy, childhood absence, susceptibility to, 6, epilepsy, childhood absence, susceptibility to, 6, childhood absence epilepsy	N/A	N/A	ClinVar, GenCC
focal epilepsy	Focal epilepsy	N/A	N/A	ClinVar
Pancreatic cancer	Pancreatic cancer	N/A	N/A	GWAS
Urticaria	Urticaria	N/A	N/A	GWAS

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenoma	Associate	31983310
Amyotrophic Lateral Sclerosis	Associate	27331657
Arrhythmias Cardiac	Associate	15888660
Arthrogryposis	Associate	31070086
Autism Spectrum Disorder	Associate	16754686, 35668055
Autistic Disorder	Associate	33863995, 34368859
Breast Neoplasms	Associate	16475676, 33597614, 34600547, 40644891
Carcinoma Squamous Cell	Associate	27602771
Carotid Stenosis	Associate	21309755
Chorea	Associate	33478561
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15888660
Conversion Disorder	Associate	34371182
Dermatitis Exfoliative	Associate	34098317
Developmental Disabilities	Associate	27729216
Diabetes Mellitus Type 1	Associate	30543678
Diabetes Mellitus Type 2	Associate	19005641, 36347081
Diabetic Neuropathies	Associate	31070086
Drug Resistant Epilepsy	Associate	34979672
Dystonia	Associate	33478561
Dystonic Disorders	Associate	33478561, 34544471
Epilepsy	Associate	31651342, 33863995, 34098317, 37735453
Epilepsy Absence	Associate	15888660, 16504478, 28165634
Epilepsy Generalized	Associate	29924869, 31651342
Epilepsy Idiopathic Generalized	Associate	36842888
Epileptic Encephalopathy Early Infantile 3	Associate	34399820
Epileptic Syndromes	Associate	34098317
Familial Hyperaldosteronism	Associate	27729216
Familial Primary Pulmonary Hypertension	Associate	28655554
Fractures Spontaneous	Associate	31126930
Glucocorticoid Remediable Aldosteronism	Associate	31126930
Hearing Loss	Associate	37735453
Hearing Loss Sensorineural	Associate	37735453
Hereditary alpha tryptasemia syndrome	Associate	28933792
Hyperaldosteronism	Associate	27729216, 31983310, 35757409, 40302475
Hyperglycemia	Stimulate	28081948
Hyperplasia	Associate	40302475
Hypertension	Associate	19609347, 25907736
Infertility Male	Associate	34604380
Language Development Disorders	Associate	34979672
Medulloblastoma	Stimulate	35243582
Migraine with Aura	Associate	36786913
Mononeuropathies	Associate	27729216
Muscular Atrophy Spinal	Associate	31070086
Myoclonic Epilepsy Juvenile	Associate	36842888
Neoplasms	Associate	27602771, 36790286
Neurologic Manifestations	Associate	33863995
Peripheral Nervous System Diseases	Associate	29581247
Prostatic Neoplasms	Associate	28081948
Schizophrenia	Associate	26462458, 29032150, 33863995
Seizures	Associate	28165634, 31651342
Seizures Febrile	Associate	34979672
Sudden Unexpected Death in Epilepsy	Associate	34816733
Syndrome	Associate	26633546, 29924869
Trigeminal Neuralgia	Associate	36397158

CACNA1H (calcium voltage-gated channel subunit alpha1 H)