Gene Name	CACNA1H
Gene ID	8912
Gene Full Name	calcium voltage-gated channel subunit alpha1 H
Gene Alias	CACNA1HB|Cav3.2|ECA6|EIG6|HALD4
Transcripts	ENSG00000196557
Virus	EBV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm, Vesicles;
Membrane Info	Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Uniport_ID	O95180
HGNC ID	HGNC:1395
OMIM ID	607904
Summary	This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
3000566	chr16	7	4	0	11	View

Data ID	Experiment type	Sample number	Platform
GSE42867	Expression array	12	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
C   GSE246060	Chip-seq	26	Illumina NovaSeq 6000 (Homo sapiens)
GSE45919	Expression array	24	Illumina HumanHT-12 V4.0 expression beadchip
GSE198332	Methylation profiling (Array)	7	Infinium MethylationEPIC
GSE223328	Expression array	16	Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version]
GSE208281	RNA-seq	50	Illumina NextSeq 500 (Homo sapiens)
GSE100458	Expression array	14	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array [CDF: Brainarray HGU133Plus2_Hs_ENTREZG_v21]
C   GSE198334	Chip-seq	4	Illumina NextSeq 500 (Homo sapiens)
GSE165194	RNA-seq	3	Illumina NextSeq 500 (Homo sapiens)
C   GSE246059	ATAC-seq	8	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE177046	RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
GSE135644	Expression array	10	Sentrix Human-6 v2 Expression BeadChip
C   GSE225248	Chip-seq	12	Illumina NextSeq 500 (Homo sapiens)
GSE102203	Expression array	10	[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [probe set (exon) version]
GSE85599	Expression array	17	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE12452	Expression array	41	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
GSE58240	Expression array	32	Illumina HumanHT-12 V4.0 expression beadchip
GSE181906	RNA-seq	24	Illumina NovaSeq 6000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE246060 - CACNA1H peak across samples

Peak Plot

> Dataset: GSE198334 - CACNA1H peak across samples

Peak Plot

> Dataset: GSE246059 - CACNA1H peak across samples

Peak Plot

> Dataset: GSE225248 - CACNA1H peak across samples

Peak Plot