Gene Report

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Basic Info

Approved Symbol	CACNA1E
Previous Symbol	CACNL1A6
Symbol Alias	Cav2.3, BII, CACH6
Approved Name	calcium channel, voltage-dependent, R type, alpha 1E subunit
Location	1q25.3
Position	chr1:181413102-181808084, 1
External Links	HGNC: 1392 Entrez Gene: 777 Ensembl: ENSG00000198216 UCSC: uc009wxt.4
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
Jan, W. C., 2014	SNP: rs704326	Weak associations for CACNA1E (rs10848635) genes were observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IBA; TAS	360
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0005891	voltage-gated calcium channel complex	cellular component	IEA	13
GO:0005245	voltage-gated calcium channel activity	molecular function	IDA[8071363]	14
GO:0007268	synaptic transmission	biological process	IBA; TAS	116

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0051899	membrane depolarization	biological process	TAS	9
GO:0008331	high voltage-gated calcium channel activity	molecular function	IBA	7
GO:0034765	regulation of ion transmembrane transport	biological process	IEA	16
GO:0050796	regulation of insulin secretion	biological process	TAS	24
GO:0006810	transport	biological process	TAS[8071363]	47
GO:0086010	membrane depolarization during action potential	biological process	IBA	9
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0070509	calcium ion import	biological process	IBA	7
GO:0006112	energy reserve metabolic process	biological process	TAS	19

Gene related KEGG pathways (count: 3)

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

ID	Name	No. of Genes in BDgene	Brief Description
hsa04930	Type II diabetes mellitus	11

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CACNA1E	HSPA1A	YES	in vivo	16543726
CACNA1E	EFHC1	NO	in vitro;in vivo	15258581

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs704326	chr1:181790521 - 181790521(1)	missense_variant	1(1/0/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs2738889		chr1:181781965 - 181781965(1)	intron_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)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:181413102..181808084 View in gBrowse