CACNA1H
Calcium Voltage-Gated Channel Subunit Alpha1 H
Gene Information Card
| Symbol | CACNA1H |
|---|---|
| Full Name | calcium voltage-gated channel subunit alpha1 H |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 8912 ncbi.nlm.nih.gov/gene/8912 |
| Ensembl ID | ENSG00000196557 |
| UniProt ID | O95180 |
| OMIM ID | 607904 |
| HGNC ID | 1395 |
| Aliases | Cav3.2, EIG6, SCA42, NBR13 |
Description
CACNA1H encodes the alpha-1H subunit of a T-type voltage-dependent calcium channel (Cav3.2). This channel mediates low-voltage-activated calcium influx, playing critical roles in neuronal pacemaking, hormone secretion, and smooth muscle contraction. Mutations in CACNA1H are linked to idiopathic generalized epilepsy, autism spectrum disorder, and spinocerebellar ataxia type 42.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic generalized epilepsy | Gain-of-function mutations increase channel activity, enhancing neuronal excitability | ClinVar, OMIM |
| Autism spectrum disorder | Missense variants alter channel gating, affecting synaptic calcium signaling | ClinVar, NCBI |
| Spinocerebellar ataxia 42 | Loss-of-function mutations impair Purkinje cell firing | OMIM |
| Childhood absence epilepsy | Increased T-type current in thalamocortical neurons | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Kidney | 6.5 | Low |
| Testis | 4.2 | Low |
| Adrenal gland | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal model |
| HEK293 | 2.1 | Low endogenous expression |
| H9c2 | 5.4 | Cardiomyoblast |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg788Cys | Missense | Rare | Gain-of-function; associated with epilepsy |
| p.Gly773Asp | Missense | Rare | Gain-of-function; increased channel open probability |
| p.Arg182Gln | Missense | Rare | Loss-of-function; linked to ataxia |
| p.Val831Met | Missense | Rare | Altered inactivation kinetics |
Mutation functional classification
Loss of Function (LOF)
p.Arg182Gln reduces channel conductance, impairing neuronal firing in cerebellar Purkinje cells.
Gain of Function (GOF)
p.Arg788Cys and p.Gly773Asp enhance channel activity, increasing neuronal excitability in thalamocortical circuits.
Dominant Negative (DN)
Not reported for CACNA1H.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transmembrane transport |
| • low voltage-gated calcium channel activity | • membrane depolarization |
| • neuronal action potential |
Pathways
• Voltage-gated calcium channels
• Calcium signaling pathway
• T-type calcium channel pathway
Protein Summary
The Cav3.2 protein (UniProt O95180) is a 2353-amino acid transmembrane protein that forms a T-type calcium channel. It contains four homologous domains (I-IV), each with six transmembrane segments. The channel activates at low membrane potentials and mediates transient calcium currents. Cav3.2 is highly expressed in brain, heart, and kidney, and its activity is modulated by G proteins, protein kinases, and redox status.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNA1H Knockout HEK293 Cell Line | EDJ-KQ619 | Human | 8912 | Details Get a Quote |
| CACNA1H Knockout A-549 Cell Line | EDJ-KQ19085 | Human | 8912 | Details Get a Quote |
| CACNA1H Knockout HCT 116 Cell Line | EDJ-KQ19086 | Human | 8912 | Details Get a Quote |
| CACNA1H Knockout HeLa Cell Line | EDJ-KQ55034 | Human | 8912 | Details Get a Quote |
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