Gene Report

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)

GO terms by database search (count: 22)

Gene related KEGG pathways (count: 4)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 2)

Gene related BioCarta pathways (count: 0)

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

Related other genetic factors
Gene related SNPs (count: 5)

Literature-origin SNPs (count: 1)

LD-proxies (count: 4)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

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
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