JPH2 (junctophilin 2)

Gene

• Entrez ID: 57158
• Gene name: Junctophilin 2
• Gene symbol: JPH2
• Synonyms (NCBI Gene): CMD2E, CMH17, JP-2, JP2
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a comp

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906897	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs387906898	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs398124358	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs531877510	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs554853074	G>C	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs557878787	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs587782951	G>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs754529157	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1600482909	T>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054386	hsa-miR-24-3p	Luciferase reporter assay	22891046
MIRT054386	hsa-miR-24-3p	Luciferase reporter assay	22891046
MIRT618947	hsa-miR-8485	HITS-CLIP	19536157
MIRT618945	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT618944	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	19536157
MIRT618942	hsa-miR-1184	HITS-CLIP	19536157
MIRT618941	hsa-miR-1205	HITS-CLIP	19536157
MIRT618940	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	19536157
MIRT618950	hsa-miR-5193	HITS-CLIP	19536157
MIRT618949	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT657077	hsa-miR-1245a	HITS-CLIP	23824327
MIRT657076	hsa-miR-8079	HITS-CLIP	23824327
MIRT657075	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT618950	hsa-miR-5193	HITS-CLIP	23824327
MIRT618949	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT657074	hsa-miR-640	HITS-CLIP	23824327
MIRT662963	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT662962	hsa-miR-5693	HITS-CLIP	23824327
MIRT662961	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT662960	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT662959	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT662958	hsa-miR-3135b	HITS-CLIP	23824327
MIRT662957	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT662956	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT662955	hsa-miR-4284	HITS-CLIP	23824327
MIRT054386	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT662954	hsa-miR-3652	HITS-CLIP	23824327
MIRT662953	hsa-miR-4430	HITS-CLIP	23824327
MIRT662952	hsa-miR-5698	HITS-CLIP	23824327
MIRT662951	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT662950	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT662949	hsa-miR-7641	HITS-CLIP	23824327
MIRT662948	hsa-miR-5691	HITS-CLIP	23824327
MIRT662947	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT662946	hsa-miR-8057	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT657073	hsa-miR-603	HITS-CLIP	23824327
MIRT662945	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT657072	hsa-miR-3941	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT657077	hsa-miR-1245a	HITS-CLIP	23824327
MIRT657076	hsa-miR-8079	HITS-CLIP	23824327
MIRT657075	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT618950	hsa-miR-5193	HITS-CLIP	23824327
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT657074	hsa-miR-640	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT657073	hsa-miR-603	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT657072	hsa-miR-3941	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618950	hsa-miR-5193	HITS-CLIP	23824327
MIRT618949	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT615568	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT615567	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615565	hsa-miR-4534	HITS-CLIP	23824327
MIRT615566	hsa-miR-8082	HITS-CLIP	23824327
MIRT615564	hsa-miR-1289	HITS-CLIP	23824327
MIRT615563	hsa-miR-4294	HITS-CLIP	23824327
MIRT615562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT615560	hsa-miR-3198	HITS-CLIP	23824327
MIRT615559	hsa-miR-4309	HITS-CLIP	23824327
MIRT615558	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	19536157
MIRT618945	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT618944	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	19536157
MIRT618942	hsa-miR-1184	HITS-CLIP	19536157
MIRT618941	hsa-miR-1205	HITS-CLIP	19536157
MIRT618940	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	19536157
MIRT618950	hsa-miR-5193	HITS-CLIP	19536157
MIRT618949	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT657077	hsa-miR-1245a	HITS-CLIP	23824327
MIRT657076	hsa-miR-8079	HITS-CLIP	23824327
MIRT657075	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT618950	hsa-miR-5193	HITS-CLIP	23824327
MIRT618949	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT657074	hsa-miR-640	HITS-CLIP	23824327
MIRT662963	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT662962	hsa-miR-5693	HITS-CLIP	23824327
MIRT662961	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT662960	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT662959	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT662958	hsa-miR-3135b	HITS-CLIP	23824327
MIRT662957	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT662956	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT662955	hsa-miR-4284	HITS-CLIP	23824327
MIRT054386	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT662954	hsa-miR-3652	HITS-CLIP	23824327
MIRT662953	hsa-miR-4430	HITS-CLIP	23824327
MIRT662952	hsa-miR-5698	HITS-CLIP	23824327
MIRT662951	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT662950	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT662949	hsa-miR-7641	HITS-CLIP	23824327
MIRT662948	hsa-miR-5691	HITS-CLIP	23824327
MIRT662947	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT662946	hsa-miR-8057	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT657073	hsa-miR-603	HITS-CLIP	23824327
MIRT662945	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT657072	hsa-miR-3941	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT657077	hsa-miR-1245a	HITS-CLIP	23824327
MIRT657076	hsa-miR-8079	HITS-CLIP	23824327
MIRT657075	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT618950	hsa-miR-5193	HITS-CLIP	23824327
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT657074	hsa-miR-640	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT657073	hsa-miR-603	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT657072	hsa-miR-3941	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT618950	hsa-miR-5193	HITS-CLIP	23824327
MIRT618949	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT618948	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT618946	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT618947	hsa-miR-8485	HITS-CLIP	23824327
MIRT618945	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618944	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618943	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT618942	hsa-miR-1184	HITS-CLIP	23824327
MIRT618941	hsa-miR-1205	HITS-CLIP	23824327
MIRT618940	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT618939	hsa-miR-3166	HITS-CLIP	23824327
MIRT618938	hsa-miR-4771	HITS-CLIP	23824327
MIRT618937	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT618936	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT615568	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT615567	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT615565	hsa-miR-4534	HITS-CLIP	23824327
MIRT615566	hsa-miR-8082	HITS-CLIP	23824327
MIRT615564	hsa-miR-1289	HITS-CLIP	23824327
MIRT615563	hsa-miR-4294	HITS-CLIP	23824327
MIRT615562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT615561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT615560	hsa-miR-3198	HITS-CLIP	23824327
MIRT615559	hsa-miR-4309	HITS-CLIP	23824327
MIRT615558	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT1077518	hsa-miR-103a	CLIP-seq
MIRT1077519	hsa-miR-107	CLIP-seq
MIRT1077520	hsa-miR-1321	CLIP-seq
MIRT1077521	hsa-miR-15a	CLIP-seq
MIRT1077522	hsa-miR-15b	CLIP-seq
MIRT1077523	hsa-miR-16	CLIP-seq
MIRT1077524	hsa-miR-195	CLIP-seq
MIRT1077525	hsa-miR-25	CLIP-seq
MIRT1077526	hsa-miR-3140-5p	CLIP-seq
MIRT1077527	hsa-miR-3179	CLIP-seq
MIRT1077528	hsa-miR-32	CLIP-seq
MIRT1077529	hsa-miR-363	CLIP-seq
MIRT1077530	hsa-miR-367	CLIP-seq
MIRT1077531	hsa-miR-424	CLIP-seq
MIRT1077532	hsa-miR-4418	CLIP-seq
MIRT1077533	hsa-miR-4494	CLIP-seq
MIRT1077534	hsa-miR-4739	CLIP-seq
MIRT1077535	hsa-miR-4756-5p	CLIP-seq
MIRT1077536	hsa-miR-4793-5p	CLIP-seq
MIRT1077537	hsa-miR-497	CLIP-seq
MIRT1077538	hsa-miR-509-3-5p	CLIP-seq
MIRT1077539	hsa-miR-509-5p	CLIP-seq
MIRT1077540	hsa-miR-642a	CLIP-seq
MIRT1077541	hsa-miR-92a	CLIP-seq
MIRT1077542	hsa-miR-92b	CLIP-seq
MIRT1077543	hsa-miR-1207-5p	CLIP-seq
MIRT1077544	hsa-miR-146a	CLIP-seq
MIRT1077545	hsa-miR-146b-5p	CLIP-seq
MIRT1077546	hsa-miR-2467-3p	CLIP-seq
MIRT1077547	hsa-miR-3187-3p	CLIP-seq
MIRT1077548	hsa-miR-3202	CLIP-seq
MIRT1077549	hsa-miR-3678-3p	CLIP-seq
MIRT1077550	hsa-miR-3926	CLIP-seq
MIRT1077551	hsa-miR-4269	CLIP-seq
MIRT1077552	hsa-miR-4435	CLIP-seq
MIRT1077553	hsa-miR-4645-5p	CLIP-seq
MIRT1077554	hsa-miR-4673	CLIP-seq
MIRT1077555	hsa-miR-4701-5p	CLIP-seq
MIRT1077556	hsa-miR-4736	CLIP-seq
MIRT1077557	hsa-miR-4747-5p	CLIP-seq
MIRT1077558	hsa-miR-4756-3p	CLIP-seq
MIRT1077559	hsa-miR-4763-3p	CLIP-seq
MIRT1077560	hsa-miR-548s	CLIP-seq
MIRT1077561	hsa-miR-588	CLIP-seq
MIRT1077562	hsa-miR-589	CLIP-seq
MIRT1077563	hsa-miR-7	CLIP-seq
MIRT1077564	hsa-miR-759	CLIP-seq
MIRT1550375	hsa-miR-1225-3p	CLIP-seq
MIRT1550376	hsa-miR-3183	CLIP-seq
MIRT1550377	hsa-miR-4323	CLIP-seq
MIRT1550378	hsa-miR-4723-3p	CLIP-seq
MIRT1550379	hsa-miR-4749-3p	CLIP-seq
MIRT1550380	hsa-miR-499a-5p	CLIP-seq
MIRT1077543	hsa-miR-1207-5p	CLIP-seq
MIRT2019269	hsa-miR-1909	CLIP-seq
MIRT1077556	hsa-miR-4736	CLIP-seq
MIRT1077559	hsa-miR-4763-3p	CLIP-seq
MIRT1077543	hsa-miR-1207-5p	CLIP-seq
MIRT2251149	hsa-miR-1286	CLIP-seq
MIRT2251150	hsa-miR-3714	CLIP-seq
MIRT2251151	hsa-miR-3922-5p	CLIP-seq
MIRT1077556	hsa-miR-4736	CLIP-seq
MIRT1077559	hsa-miR-4763-3p	CLIP-seq
MIRT1077564	hsa-miR-759	CLIP-seq
MIRT2389559	hsa-miR-3120-3p	CLIP-seq
MIRT2389560	hsa-miR-3908	CLIP-seq
MIRT2465500	hsa-miR-4457	CLIP-seq
MIRT1077533	hsa-miR-4494	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001046	Function	Core promoter sequence-specific DNA binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001786	Function	Phosphatidylserine binding	IDA	24001019
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20095964
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	24001019
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	24001019
GO:0005634	Component	Nucleus	IDA	30409805
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IDA	24001019
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	TAS	19095005
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	TAS	19095005
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	IEA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	19095005
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030018	Component	Z disc	IEA
GO:0030314	Component	Junctional membrane complex	IBA
GO:0030314	Component	Junctional membrane complex	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	24001019
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0055024	Process	Regulation of cardiac muscle tissue development	IEA
GO:0055074	Process	Calcium ion homeostasis	IDA	20095964
GO:0060316	Process	Positive regulation of ryanodine-sensitive calcium-release channel activity	IDA	20095964
GO:0060402	Process	Calcium ion transport into cytosol	IEA
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	24001019
GO:0070300	Function	Phosphatidic acid binding	IDA	24001019
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	24001019

Other IDs

• MIM: 605267
• HGNC: 14202
• e!Ensembl: ENSG00000149596

Protein

• UniProt ID: Q9BR39
• Protein name: Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleaved into: Junctophilin-2 N-terminal fragment (JP2NT)]
• Protein function: [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 st
• PDB: 7RXE, 7RXQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02493	MORN	14 → 36	MORN repeat	Repeat
  PF02493	MORN	38 → 59	MORN repeat	Repeat
  PF02493	MORN	60 → 78	MORN repeat	Repeat
  PF02493	MORN	82 → 103	MORN repeat	Repeat
  PF02493	MORN	106 → 128	MORN repeat	Repeat
  PF02493	MORN	129 → 151	MORN repeat	Repeat
  PF02493	MORN	291 → 313	MORN repeat	Repeat
  PF02493	MORN	314 → 336	MORN repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in skeletal muscle and heart. {ECO:0000269|PubMed:10891348}.
• Sequence:

  MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTF
  EGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGT
  ETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSP
  ASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
  SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKR
  SGFGVSERSSGLRYEGEWLDNLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSN
  KVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLAR
  ELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRP
  EGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPAT
  ERMAIEALQAPPAPSREPEVALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPA
  TAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKTEARGLTKAGAKKKARKEAAL
  AAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT

• Sequence length: 696

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiomyopathy, dilated, 2E	Pathogenic	rs2145838034	RCV001572617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs587782951	RCV006342109	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs587782951	RCV000466489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 17	Pathogenic; Likely pathogenic	rs1600482909, rs387906898, rs754529157	RCV000023408 RCV000023410 RCV001029948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs587782951	RCV000143902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JPH2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular hypertrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supraventricular tachycardia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	33947203	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	26869393, 29930145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	30235249	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17509612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	17509612, 36357925	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17509612, 31227780, 32879264, 36129056	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	17509612, 22515980, 24001019, 30235249, 30681346, 31227780, 32777767, 32879264, 33947203, 35238659	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	31227780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17	Cardiomyopathy	CLINGEN_DG	15541368, 17476457, 17509612, 21216834, 21339484, 23973696, 26869393, 28393127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17	Cardiomyopathy	UNIPROT_DG	17509612, 24001019, 28393127, 30235249		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17	Cardiomyopathy	GENOMICS_ENGLAND_DG	30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31227780		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27729468, 30235249, 30409805, 30867288, 31217359		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30235249		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31227780	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27729468, 30235249, 30409805, 30867288, 31217359		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30235249	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	30235249	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	17509612	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17476457, 17509612, 20694023, 21216834, 22515980, 24001019, 30235249, 31227780		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17476457, 17509612		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17476457, 17509612, 20694023, 24001019, 31227780		★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	30681346, 32777767	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28566298		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23178314	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28473402		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	32879264	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28566298		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31959204	Associate	★☆☆☆☆ Found in Text Mining only