Gene Report

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Basic Info

Approved Symbol	CACNA2D1
Previous Symbol	CACNL2A, CACNA2, MHS3, LINC01112
Symbol Alias	lncRNA-N3
Approved Name	calcium channel, voltage-dependent, alpha 2/delta subunit 1
Previous Name	long intergenic non-protein coding RNA 1112
Location	7q21-q22
Position	chr7:81946444-82443798, -1
External Links	HGNC: 1399 Entrez Gene: 781 Ensembl: ENSG00000153956 UCSC: uc003uhr.1
No. of Studies	2 (Positive: 0; Negative: 0; trend: 2)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Winham S.J., 2014	SNP: rs2367911	rs2367911 in CACNA2D1 showed little evidence for association with BD.	Trend	Comment on Study
Smith, E. N.,2011	SNP: rs2367911	Suggestive association of this gene was found.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005891	voltage-gated calcium channel complex	cellular component	IDA[11160515]	13
GO:0005245	voltage-gated calcium channel activity	molecular function	IDA[1309651]; IDA[11160515]	14
GO:0006816	calcium ion transport	biological process	IDA[11160515]	14

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0070588	calcium ion transmembrane transport	biological process	IBA	24
GO:0005246	calcium channel regulator activity	molecular function	IBA	8
GO:0030315	T-tubule	cellular component	IEA	8
GO:0051924	regulation of calcium ion transport	biological process	IDA[1309651]	8
GO:0016529	sarcoplasmic reticulum	cellular component	IEA	6
GO:0034765	regulation of ion transmembrane transport	biological process	IEA	16

Gene related KEGG pathways (count: 1)

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

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2367911	chr7:82156904 - 82156904(1)	intron_variant; non_coding_transcript_variant	2(0/0/2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs3801727		chr7:82162685 - 82162685(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7q21	chr7:77900000-98400000	4 (0/2/2)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr7:81946444..82443798 View in gBrowse