CACNA1H (calcium voltage-gated channel subunit alpha1 H)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: CACNA1H (calcium voltage-gated channel subunit alpha1 H) Homo sapiens

Analyze

Symbol:

CACNA1H

Name:

calcium voltage-gated channel subunit alpha1 H

RGD ID:

68993

HGNC Page

HGNC:1395

Description:

Enables low voltage-gated calcium channel activity and scaffold protein binding activity. Involved in several processes, including calcium ion import; positive regulation of acrosome reaction; and steroid hormone biosynthetic process. Located in plasma membrane. Implicated in childhood absence epilepsy; idiopathic generalized epilepsy; and primary hyperaldosteronism.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CACNA1HB; calcium channel, voltage-dependent, T type, alpha 1H subunit; calcium channel, voltage-dependent, T type, alpha 1Hb subunit; Cav3.2; ECA6; EIG6; FLJ90484; HALD4; low-voltage-activated calcium channel alpha1 3.2 subunit; low-voltage-activated calcium channel alpha13.2 subunit; voltage dependent t-type calcium channel alpha-1H subunit; voltage-dependent T-type calcium channel subunit alpha-1H; voltage-gated calcium channel alpha subunit Cav3.2; voltage-gated calcium channel alpha subunit CavT.2; voltage-gated calcium channel subunit alpha Cav3.2

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	1,153,106 - 1,221,768 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	16	1,153,106 - 1,221,771 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	1,203,106 - 1,271,768 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,143,242 - 1,211,773 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	1,143,241 - 1,211,772	NCBI
Celera	16	1,418,957 - 1,487,666 (+)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,111,743 - 1,204,831 (+)	NCBI		HuRef
CHM1_1	16	1,179,129 - 1,271,446 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,165,753 - 1,237,078 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Send us a Message

Imported Disease Annotations - ClinVar