CACNA1H

Chr 16p13.3

calcium voltage-gated channel subunit alpha1 H

Aliases:: Cav3.2
MANE:: ENST00000348261.11

OMIM: 607904 ↗NCBI: 8912 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CACNA1H · O95180

v62025-08-01

Predicted Aligned Error matrix for CACNA1H — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.2/ 100

Low

2,353 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)32%
Low(50–70)11%
Very low(< 50)46%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Extreme early-onset hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

epilepsy
0.61
neuropathic pain
0.60
fibromyalgia
0.60
Seizure
0.60
hyperaldosteronism, familial, type IV
0.59
restless legs syndrome
0.59
postherpetic neuralgia
0.57
anxiety disorder
0.57
neuralgia
0.57
Focal-onset seizure
0.52

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Voltage-dependent T-type calcium channel subunit alpha-1H

Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:27149520, PubMed:9670923, PubMed:9930755). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216)