help  | about  | cite  | software

Gene : CACNA1H Homo sapiens

Name  ? calcium voltage-gated channel subunit alpha1 H Cytological Location  16p13.3
Brief Description  calcium voltage-gated channel subunit alpha1 H
Description  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]
  • synonyms:
  • calcium channel, voltage-dependent, T type, alpha 1H subunit,
  • EIG6,
  • NM_001005407,
  • HGNC:1395,
  • AL031703,
  • ECA6,
  • Cav3.2,
  • HALD4,
  • OTTHUMG00000172992,
  • Cav3.2,
  • CACNA1H,
  • uc002cks.4
  • identifiers:
  • 8912,
  • ENSG00000196557,

Genome feature

Region: gene ? Length: 68664  
Location: 16:1153106-1221769 Cyto location: 16p13.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



445 SNPs

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results