Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CACNA1D
Previous Symbol	CCHL1A2, CACNL1A2
Symbol Alias	Cav1.3, CACH3, CACN4
Approved Name	calcium channel, voltage-dependent, L type, alpha 1D subunit
Location	3p14.3
Position	chr3:53328963-53813733, 1
External Links	HGNC: 1391 Entrez Gene: 776 Ensembl: ENSG00000157388 UCSC: uc003dgu.5
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ament, S. A., 2015		Coding P-value=0.43, q-value=0.74, Regulatory P-value=0.0016, q-value=0.0086. The gene has significant rare variant associations to BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 27)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007411	axon guidance	biological process	TAS	60
GO:0005245	voltage-gated calcium channel activity	molecular function	IDA[11160515]	14
GO:0006816	calcium ion transport	biological process	IDA[11160515]	14
GO:0005886	plasma membrane	cellular component	ISS[21859974]; TAS	360
GO:0005891	voltage-gated calcium channel complex	cellular component	IDA[11160515]	13

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030506	ankyrin binding	molecular function	ISS[21859974]	3
GO:0051928	positive regulation of calcium ion transport	biological process	IDA[1309651]	9
GO:0070588	calcium ion transmembrane transport	biological process	ISS	24
GO:0086091	regulation of heart rate by cardiac conduction	biological process	IMP[21131953]	6
GO:0060372	regulation of atrial cardiac muscle cell membrane repolarization	biological process	ISS	1
GO:0070509	calcium ion import	biological process	IDA[1309651]	7
GO:0051393	alpha-actinin binding	molecular function	IPI[17110593]	4
GO:0030018	Z disc	cellular component	ISS	16
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0086059	voltage-gated calcium channel activity involved SA node cell action potential	molecular function	IMP[21131953]	1
GO:0050796	regulation of insulin secretion	biological process	TAS	24
GO:1901016	regulation of potassium ion transmembrane transporter activity	biological process	ISS	2
GO:0086012	membrane depolarization during cardiac muscle cell action potential	biological process	IC[21859974]	2
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006112	energy reserve metabolic process	biological process	TAS	19
GO:0008331	high voltage-gated calcium channel activity	molecular function	IDA[1309651]	7
GO:0086007	voltage-gated calcium channel activity involved in cardiac muscle cell action potential	molecular function	IC[21859974]	1
GO:0007605	sensory perception of sound	biological process	IMP[21131953]	18
GO:0086010	membrane depolarization during action potential	biological process	IBA	9
GO:0086046	membrane depolarization during SA node cell action potential	biological process	IMP[21131953]	2
GO:1901379	regulation of potassium ion transmembrane transport	biological process	ISS	4
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	ISS	10

Gene related KEGG pathways (count: 4)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53
hsa04010	MAPK signaling pathway	39

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04930	Type II diabetes mellitus	11
hsa04912	GnRH signaling pathway	17

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CACNA1D	STX1A	NO	in vivo	10468580

Related other genetic factors

Gene related SNPs (count: 5)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3774609	chr3:53798876 - 53798876(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs2289212	chr3:53787180 - 53787180(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3774605	chr3:53796740 - 53796740(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs3774602	chr3:53789071 - 53789071(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3774608	chr3:53798685 - 53798685(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p21	chr3:43600000-54400000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:53328963..53813733 View in gBrowse