ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	CACNA1F
Previous Symbol	CSNB2, AIED
Symbol Alias	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2
Approved Name	calcium channel, voltage-dependent, L type, alpha 1F subunit
Previous Name	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"
Location	Xp11.23
Position	chrX:49061523-49089833, -1
External Links	HGNC: 1393 Entrez Gene: 778 Ensembl: ENSG00000102001 UCSC: uc010nip.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by Literature SNP; Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs5906754	chrX:49060227(Fwd)	downstream_gene_variant; upstream_gene_variant	3(3/0/0)

LD-proxies (count: 8)

rs_ID	Location	Functional Annotation
rs2075866	chrX:49071964(Fwd)	synonymous_variant; upstream_gene_variant
rs926175	chrX:49074801(Fwd)	downstream_gene_variant; intron_variant
rs2283733	chrX:49073385(Fwd)	intron_variant
rs2071317	chrX:49070813(Fwd)	intron_variant; upstream_gene_variant
rs2071316	chrX:49069366(Fwd)	intron_variant; upstream_gene_variant
rs5905724	chrX:49087487(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2235127	chrX:49081291(Fwd)	synonymous_variant; upstream_gene_variant
rs2869212	chrX:49077583(Fwd)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 10)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006874	cellular calcium ion homeostasis	biological process	IEA	15
GO:0016021	integral to membrane	cellular component	IDA[15897456]	932
GO:0007411	axon guidance	biological process	TAS	71
GO:0048813	dendrite morphogenesis	biological process	IEA	8
GO:0050908	detection of light stimulus involved in visual perception	biological process	IMP[7571473]	4
GO:0060041	retina development in camera-type eye	biological process	IEA	9
GO:0005245	voltage-gated calcium channel activity	molecular function	IDA[15897456]	22
GO:0005891	voltage-gated calcium channel complex	cellular component	IDA[15897456]	19
GO:0046872	metal ion binding	molecular function	IEA	200
GO:0007601	visual perception	biological process	IMP[9662400]	29

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene
hsa04010	MAPK signaling pathway	68
hsa04912	GnRH signaling pathway	30
hsa04020	Calcium signaling pathway	66

Genes shared at least 5 GO terms with CACNA1F (count: 2)

Gene Symbol	Pathway Count	Pathway List
CACNB4	5	cellular calcium ion homeostasis; axon guidance; detection of light stimulus involved in visual perception; voltage-gated calcium channel activity; voltage-gated calcium channel complex;
CACNA1C	5	integral to membrane; axon guidance; voltage-gated calcium channel activity; voltage-gated calcium channel complex; metal ion binding;

Genes shared at least 2 KEGG pathways with CACNA1F (count: 33)

Gene Symbol	Pathway Count	Pathway List
CACNA1D	3	MAPK signaling pathway; GnRH signaling pathway; Calcium signaling pathway;
CACNA1C	3	MAPK signaling pathway; GnRH signaling pathway; Calcium signaling pathway;
CACNA1S	3	MAPK signaling pathway; GnRH signaling pathway; Calcium signaling pathway;
CACNA1I	2	MAPK signaling pathway; Calcium signaling pathway;
PLA2G2D	2	MAPK signaling pathway; GnRH signaling pathway;
CACNA1B	2	MAPK signaling pathway; Calcium signaling pathway;
PLA2G4B	2	MAPK signaling pathway; GnRH signaling pathway;
MAPK7	2	MAPK signaling pathway; GnRH signaling pathway;
MAP2K3	2	MAPK signaling pathway; GnRH signaling pathway;
PLA2G3	2	MAPK signaling pathway; GnRH signaling pathway;
MAPK1	2	MAPK signaling pathway; GnRH signaling pathway;
CACNA1A	2	MAPK signaling pathway; Calcium signaling pathway;
CACNA1H	2	MAPK signaling pathway; Calcium signaling pathway;
CACNA1E	2	MAPK signaling pathway; Calcium signaling pathway;
PLA2G6	2	MAPK signaling pathway; GnRH signaling pathway;
MAPK3	2	MAPK signaling pathway; GnRH signaling pathway;
PLA2G5	2	MAPK signaling pathway; GnRH signaling pathway;
PLA2G1B	2	MAPK signaling pathway; GnRH signaling pathway;
PPP3R2	2	MAPK signaling pathway; Calcium signaling pathway;
PLA2G2A	2	MAPK signaling pathway; GnRH signaling pathway;
CACNA1G	2	MAPK signaling pathway; Calcium signaling pathway;
MAPK9	2	MAPK signaling pathway; GnRH signaling pathway;
PLA2G10	2	MAPK signaling pathway; GnRH signaling pathway;
PLA2G2E	2	MAPK signaling pathway; GnRH signaling pathway;
ADCY9	2	GnRH signaling pathway; Calcium signaling pathway;
CAMK2D	2	GnRH signaling pathway; Calcium signaling pathway;
ADCY2	2	GnRH signaling pathway; Calcium signaling pathway;
PLCB3	2	GnRH signaling pathway; Calcium signaling pathway;
ITPR1	2	GnRH signaling pathway; Calcium signaling pathway;
ADCY4	2	GnRH signaling pathway; Calcium signaling pathway;
ADCY3	2	GnRH signaling pathway; Calcium signaling pathway;
PLCB2	2	GnRH signaling pathway; Calcium signaling pathway;
ITPR2	2	GnRH signaling pathway; Calcium signaling pathway;

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Region: chrX:49061523..49089833 View in gBrowse