JPH2

This page contains an overview of the genetic variation in the JPH2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

JPH2 gene and transcript details

Gene Name
junctophilin 2

Gene Links
Ensembl: ENSG00000149596 - Locus Reference Genomic: LRG_394

Genomic Location
Chromosome 20 : 42,743,436 - 42,815,345 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (2088 bases)Protein (696 aa)
ENST00000372980 ENSP00000362071
LRG_394t1LRG_394p1
NM_020433.4
Q9BR39

Summary of JPH2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of JPH2 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).


JPH2 variants in ExAC

Details of the protein-altering JPH2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants1980.00342
Truncating60.00010
Missense1840.00312
Inframe10.00004
Splice Site70.00016

Rare variants are defined as having a mean allelic frequency of less than 0.0001.