Gene
JPH2
junctophilin 2
- HGNC 14202(opens in a new tab)
- Ensembl gene ENSG00000149596(opens in a new tab)
- NCBI Gene 57158(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.12
- Coordinates
- Chromosome 20: 44,106,590–44,187,188 (GRCh38)
- Exons
- 6 exons across 80.6 kb
- Protein
- 696 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- JP-2, JP2
- MANE Select transcript
- ENST00000372980.4NM_020433.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Dilated Cardiomyopathy
Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
- ClinGen rates the link strong
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How JPH2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 9.5 kb of the gene's 80.6 kb; 2,091 of those bases code for the protein.
How a genome test reads JPH2
6
positions in JPH2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 80.6 kb of JPH2, introns included, not only the 9.5 kb of exons.
Traits linked to JPH2
The Human Phenotype Ontology lists these as features of the rare conditions JPH2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). JPH2 gene: junctophilin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/jph2
Dante Labs. JPH2 gene: junctophilin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/jph2
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