JPH2

Chr 20q13.12

junctophilin 2

Aliases:: JP-2, JP2
MANE:: ENST00000372980.4

OMIM: 605267 ↗NCBI: 57158 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

JPH2 · Q9BR39

v62025-08-01

Predicted Aligned Error matrix for JPH2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.1/ 100

Low

696 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)11%
Low(50–70)8%
Very low(< 50)47%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy
Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

hypertrophic cardiomyopathy 17
0.72
hypertrophic cardiomyopathy
0.70
dilated cardiomyopathy
0.54
hypertensive disorder
0.52
essential hypertension
0.47
atrial fibrillation
0.47
Abnormality of the skeletal system
0.42
type 2 diabetes mellitus
0.42
familial isolated dilated cardiomyopathy
0.39
cardiomyopathy
0.38

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

Protein function (UniProt)

Junctophilin-2

Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes (PubMed:20095964). Provides a structural foundation for functional cross-talk between the cell surface and intracellular Ca(2+) release channels by maintaining the 12-15 nm gap between the sarcolemma and the sarcoplasmic reticulum membranes in the cardiac dyads (By similarity). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release (By similarity). Contributes to the construction of skeletal muscle triad junctions (By similarity)