HPCA

Chr 1p35.1

hippocalcin

MANE:: ENST00000373467.4

OMIM: 142622 ↗NCBI: 3208 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HPCA · P84074

v62025-08-01

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

Mean pLDDT

86.4/ 100

Confident

193 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)27%
Low(50–70)4%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

torsion dystonia 2
0.74
complex movement disorder with or without neurodevelopmental features
0.37
neurodegenerative disease
0.34
type 2 diabetes mellitus
0.09
Dystonia
0.04
lissencephaly due to TUBA1A mutation
0.04
central nervous system cancer
0.03
diabetes mellitus
0.03
Huntington disease
0.03
Abnormality of the skeletal system
0.03

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

Protein function (UniProt)

Neuron-specific calcium-binding protein hippocalcin

Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity)