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	8913
Gene name	Calcium voltage-gated channel subunit alpha1 G
Gene symbol	CACNA1G
Synonyms (NCBI Gene)	Ca(V)T.1Cav3.1NBR13SCA42SCA42ND
Chromosome	17
Chromosome location	17q21.33
Summary	Voltage-sensitive 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, gene expression, cell motility

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882202	TTC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs755221106	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs772685782	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886039324	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041505	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795668	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555558553	A>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1555638141	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1598588782	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant

Show/Hide all (17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT639508	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT639507	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT639506	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639505	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639504	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT639508	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT639507	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT639506	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639505	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639504	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT857729	hsa-miR-507	CLIP-seq
MIRT857730	hsa-miR-541	CLIP-seq
MIRT857731	hsa-miR-557	CLIP-seq
MIRT857732	hsa-miR-615-5p	CLIP-seq
MIRT857733	hsa-miR-654-5p	CLIP-seq
MIRT2436033	hsa-miR-3688-3p	CLIP-seq
MIRT2436034	hsa-miR-4796-5p	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	10648811, 10692398
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	29878067
GO:0005262	Function	Calcium channel activity	IEA
GO:0005737	Component	Cytoplasm	IDA	26715324
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	26715324
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	ISS
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	9495342
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008332	Function	Low voltage-gated calcium channel activity	IDA	21084288, 26456284, 26715324
GO:0008332	Function	Low voltage-gated calcium channel activity	IEA
GO:0010045	Process	Response to nickel cation	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	21084288
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070509	Process	Calcium ion import	IDA	21084288
GO:0070509	Process	Calcium ion import	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	26456284, 26715324
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	ISS
GO:0086015	Process	SA node cell action potential	ISS
GO:0086016	Process	AV node cell action potential	ISS
GO:0086018	Process	SA node cell to atrial cardiac muscle cell signaling	ISS
GO:0086027	Process	AV node cell to bundle of His cell signaling	ISS
GO:0086045	Process	Membrane depolarization during AV node cell action potential	ISS
GO:0086046	Process	Membrane depolarization during SA node cell action potential	ISS
GO:0086056	Function	Voltage-gated calcium channel activity involved in AV node cell action potential	ISS
GO:0086059	Function	Voltage-gated calcium channel activity involved SA node cell action potential	ISS
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	21084288
GO:0098703	Process	Calcium ion import across plasma membrane	IBA

MIM	HGNC	e!Ensembl
604065	1394	ENSG00000006283

O43497

Protein name

Voltage-dependent T-type calcium channel subunit alpha-1G (Cav3.1c) (NBR13) (Voltage-gated calcium channel subunit alpha Cav3.1)

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

6KZO , 6KZP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	80 → 406	Ion transport protein	Family
PF00520	Ion_trans	742 → 975	Ion transport protein	Family
PF00520	Ion_trans	1275 → 1548	Ion transport protein	Family
PF00520	Ion_trans	1610 → 1862	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral ce

Sequence

MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVV
FFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAF
DDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVR
TVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNR
CFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGL
DYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIM
YFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA
STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSS
SCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRDANGSRRLMLPPPSTP
ALSGAPPGGAESVHSFYHADCHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPE
TLKEKALVEVAASSGPPTLTSLNIPPGPYSSMHKLLETQSTGACQSSCKISSPCLKADSG
ACGPDSCPYCARAGAGEVELADREMPDSDSEAVYEFTQDAQHSDLRDPHSRRQRSLGPDA
EPSSVLAFWRLICDTFRKIVDSKYFGRGIMIAILVNTLSMGIEYHEQPEELTNALEISNI
VFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQQGGGLSVLRTFRLMR
VLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTL
PDRKNFDSLLWAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLV
AILVEGFQAEEISKREDASGQLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCL
ALVSLGEHPELRKSLLPPLIIHTAATPMSLPKSTSTGLGEALGPASRRTSSSGSAEPGAA
HEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLKRRSPSGERRSLLSGEGQESQ
DEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGRGSASEHQDCN
GKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFP
PQSRFRLLCHRIITHKMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAV
FLAEMTVKVVALGWCFGEQAYLRSSWNVLDGLLVLISVIDILVSMVSDSGTKILGMLRVL
RLLRTLRPLRVISRAQGLKLVVETLMSSLKPIGNIVVICCAFFIIFGILGVQLFKGKFFV
CQGEDTRNITNKSDCAEASYRWVRHKYNFDNLGQALMSLFVLASKDGWVDIMYDGLDAVG
VDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENFHKCRQHQEEEEARRREEKRL
RRLEKKRRNLMLDDVIASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTSHYLDLFITGV
IGLNVVTMAMEHYQQPQILDEALKICNYIFTVIFVLESVFKLVAFGFRRFFQDRWNQLDL
AIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKMAVGMRALLDTVMQAL
PQVGNLGLLFMLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVST
GDNWNGIMKDTLRDCDQESTCYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKE
AKEEAELEAELELEMKTLSPQPHSPLGSPFLWPGVEGPDSPDSPKPGALHPAAHARSASH
FSLEHPTDRQLFDTISLLIQGSLEWELKLMDELAGPGGQPSAFPSAPSLGGSDPQIPLAE
MEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHPTELPGPDLLTVRKSG
VSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAP
HLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPS
PPLARAYSFWGQSSTQAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTE
LSWISGDLLPPGGQEEPPSPRDLKKCYSVEAQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ
PHLGTDPSNLGGQPLGGPGSRPKKKLSPPSITIDPPESQGPRTPPSPGICLRRRAPSSDS
KDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP

Sequence length

2377

Interactions

View interactions

	KEGG
	MAPK signaling pathway Calcium signaling pathway Circadian entrainment Aldosterone synthesis and secretion Cortisol synthesis and secretion GnRH secretion Type II diabetes mellitus Cushing syndrome

204

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs730882202	RCV000162106
Abnormality of the skeletal system	Likely pathogenic	rs730882202	RCV000162106
CACNA1G-related disorder	Pathogenic	rs755221106	RCV000509294
Hirsutism	Likely pathogenic	rs730882202	RCV000162106
Neurodevelopmental abnormality	Pathogenic	rs886041505	RCV001264626
Neurodevelopmental delay	Likely pathogenic	rs781412936	RCV002274325
Severe intellectual disability	Likely pathogenic	rs730882202	RCV000162106
Spastic ataxia	Likely pathogenic	rs1051546563, rs2146284067	RCV001647151 RCV001647186
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Likely pathogenic; Pathogenic	rs2145968180, rs2545574847, rs755221106, rs779508150, rs886041505, rs1555558553	RCV001806451 RCV002468816 RCV000763013 RCV003224923 RCV000677308 RCV000677309
Spinocerebellar ataxia type 42	Likely pathogenic; Pathogenic	rs2145795264, rs1250995341, rs755221106, rs2545574866, rs2039524843	RCV001647194 RCV001614476 RCV000207440 RCV003320010 RCV001251141

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cerebellar ataxia	Uncertain significance	rs1598151147, rs1450096310	RCV001002785 RCV001002791
Developmental disorder	Likely benign	rs2144887301	RCV001843822
Epilepsy	Conflicting classifications of pathogenicity	rs779077930	RCV005626375
Familial cancer of breast	Uncertain significance	rs781013378	RCV005939085
Intellectual disability	Likely benign; not provided; Uncertain significance	rs375496086, rs2545915435, rs1216562585	RCV005626430 RCV002509009 RCV000709835
Juvenile myoclonic epilepsy	not provided; Uncertain significance	rs2545915435, rs1216562585	RCV002509009 RCV000709835
Malignant lymphoma, large B-cell, diffuse	Benign	rs8066527	RCV005930288
Neonatal encephalopathy	Uncertain significance	rs1463084840	RCV003154298
See cases	Uncertain significance	rs2146236090	RCV002252951
Vascular disorder	Conflicting classifications of pathogenicity	rs545668335	RCV005626884

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	19455149
Autistic Disorder	Associate	19455149
Carcinoma Hepatocellular	Associate	18161048
Carcinoma Non Small Cell Lung	Associate	29509247
Carcinoma Squamous Cell	Associate	20849603
Cerebellar Ataxia	Associate	26456284, 26715324, 32878331
Cerebellar Diseases	Associate	38003592, 39674904
Cerebellar Hypoplasia	Associate	38003592
Cognition Disorders	Associate	32878331
Colorectal Neoplasms	Associate	16407376, 17065427, 17474983, 18834226, 25167802, 28469732, 29930328
Colorectal Neoplasms	Stimulate	31957825
Developmental Disabilities	Associate	32878331
Diabetes Mellitus Type 2	Associate	32991460
Epilepsies Partial	Associate	31327507
Epilepsy Generalized	Associate	29924869, 31327507
Epileptic Encephalopathy Early Infantile 3	Associate	32878331
Essential Tremor	Associate	31404076
Familial Primary Pulmonary Hypertension	Associate	28655554
Glioma	Associate	18474104
Head and Neck Neoplasms	Associate	33243296
Lung Neoplasms	Associate	20849603
Lymphatic Metastasis	Stimulate	29509247
Lymphoma Non Hodgkin	Associate	36803844
Multiple Pterygium Syndrome Autosomal Dominant	Associate	26456284
Muscle Hypotonia	Associate	32878331
Neoplasm Metastasis	Stimulate	29509247
Neoplasms	Associate	17591929, 18474104, 24577895, 29930328, 35715447, 36803844
Neoplasms	Inhibit	36790286
Neurologic Manifestations	Associate	39674904
Osteoarthritis	Associate	37259724
Osteoporosis	Associate	27856519
Osteoporotic Fractures	Associate	27856519
Pancreatic Neoplasms	Associate	36803844
Prostatic Neoplasms	Associate	35715447
Seizures	Associate	32878331
Spinocerebellar Ataxias	Associate	26715324, 33243296, 39674904
Syndrome	Associate	29924869, 39674904
Tremor	Associate	26715324, 33243296
Urinary Bladder Neoplasms	Associate	24577895

CACNA1G (calcium voltage-gated channel subunit alpha1 G)