JPH2
entrez
57158
canonical
uniprot
Q9BR39
canonical
ensembl
ENSG00000149596
resolver
ensp
ENSP00000344590
resolver
ensp
ENSP00000362071
resolver
ensp
ENSP00000792879
resolver
genesymbol
JPH2
resolver
genesymbol_syn
JP2
resolver
hgnc
HGNC:14202
resolver
uniprot
E1P5X1
resolver
uniprot
O95913
resolver
uniprot
Q5JY74
resolver
uniprot
Q86VZ3
resolver
uniprot
Q9UJN4
resolver
uniprot_entry
JPH2_HUMAN
resolver
uniprot_entry
Q86VZ3_HUMAN
resolver
uniprot_sec
E1P5X1
resolver
uniprot_sec
O95913
resolver
uniprot_sec
Q5JY74
resolver
uniprot_sec
Q9UJN4
resolver
amino_acid_sequence
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVGSQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLDNLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSNKVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLARELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRPEGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPATERMAIEALQAPPAPSREPEVALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPATAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKTEARGLTKAGAKKKARKEAALAAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 17 (CMH17) [MIM:613873]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:17509612, ECO:0000269|PubMed:24001019, ECO:0000269|PubMed:28393127, ECO:0000269|PubMed:30235249}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 2E (CMD2E) [MIM:619492]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2E is an autosomal recessive form with neonatal or early childhood onset and rapid progression to cardiac failure. {ECO:0000269|PubMed:30384889, ECO:0000269|PubMed:31227780}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 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). {ECO:0000250|UniProtKB:Q9ET78, ECO:0000269|PubMed:20095964}.; FUNCTION: [Junctophilin-2 N-terminal fragment]: Transcription repressor required to safeguard against the deleterious effects of cardiac stress. Generated following cleavage of the Junctophilin-2 chain by calpain in response to cardiac stress in cardiomyocytes. Following cleavage and release from the membrane, translocates to the nucleus, binds DNA and represses expression of genes implicated in cell growth and differentiation, hypertrophy, inflammation and fibrosis. Modifies the transcription profile and thereby attenuates pathological remodeling in response to cardiac stress. Probably acts by competing with MEF2 transcription factors and TATA-binding proteins. {ECO:0000250|UniProtKB:Q9ET78}.
uniprot
proteins
mass_dalton
74222
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development. {ECO:0000269|PubMed:20095964}.; PTM: Proteolytically cleaved by calpain in response to cardiac stress. The major cleavage site takes place at the C-terminus and leads to the release of the Junctophilin-2 N-terminal fragment chain (JP2NT). {ECO:0000250|UniProtKB:Q9ET78}.
uniprot
proteins
protein_family
Junctophilin family
uniprot
proteins
pubmed
10891348
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17476457
uniprot
proteins
pubmed
17509612
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20095964
uniprot
proteins
pubmed
23973696
uniprot
proteins
pubmed
24001019
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27471098
uniprot
proteins
pubmed
27532831
uniprot
proteins
pubmed
28393127
uniprot
proteins
pubmed
30235249
uniprot
proteins
pubmed
30384889
uniprot
proteins
pubmed
30409805
uniprot
proteins
pubmed
31227780
uniprot
proteins
pubmed
35044787
uniprot
proteins
sequence_length
696
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Junctophilin-2]: Cell membrane {ECO:0000250|UniProtKB:Q9ET78}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9ET78}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9ET78}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q9ET78}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9ET78}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q9ET78}. Note=The transmembrane domain is anchored in sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized at the junction of A and I bands. {ECO:0000250|UniProtKB:Q9ET78}.; SUBCELLULAR LOCATION: [Junctophilin-2 N-terminal fragment]: Nucleus {ECO:0000269|PubMed:30409805}. Note=Accumulates in the nucleus of stressed hearts. {ECO:0000250|UniProtKB:Q9ET78}.
uniprot
proteins
transmembrane_region
TRANSMEM 675..695; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins