Jph2
entrez
59091
canonical
uniprot
Q9ET78
canonical
ensembl
ENSMUSG00000017817
resolver
ensp
ENSMUSP00000017961
resolver
ensp
ENSMUSP00000105052
resolver
ensp
ENSMUSP00000210050
resolver
enst
ENSMUST00000017961
resolver
enst
ENSMUST00000109425
resolver
genesymbol
Jph2
resolver
genesymbol_syn
Jp2
resolver
uniprot
Q3U077
resolver
uniprot
Q9ET79
resolver
uniprot_entry
JPH2_MOUSE
resolver
uniprot_sec
Q3U077
resolver
uniprot_sec
Q9ET79
resolver
amino_acid_sequence
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSTNSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSPAADGPMLPSPPVPRGGFALTLLATAEAARPQGLFTRGTLLGRLRRSESRTSLGSQRSRLSFLKSELSSGASDAASTGSLAEGAEGPDDAAAPFDADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLDNLRHGYGRTTLPDGHREEGKYRHNVLVKGTKRRVLPLKSSKVRQKVEHGVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLAKELAPDFYQPGPEYQKRRLLQEILENSESLLEPPERGLGTGLPERPRESPQLHERETPQPEGGPPSPAGTPPQPKRPRPGASKDGLLSPGSWNGEPGGEGSRPATPSDGAGRRSPARPASEHMAIEALQPPPAPSQEPEVAMYRGYHSYAVRTGPPEPPPLEDEQEPEPEPEPEVRRSDSAPPSPVSATVPEEEPPAPRSPVPAKQATLEPKPIVPKAEPKAKARKTEARGLSKAGAKKKGRKEVAQAKEAEVEVEEVPNTVLICMVILLNIGLAILFVHLLT
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:10949023, PubMed:19095005, PubMed:21339484). 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 (PubMed:10949023, PubMed:19095005, PubMed:21339484). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release (PubMed:10949023, PubMed:19095005, PubMed:21339484). Contributes to the construction of skeletal muscle triad junctions (PubMed:10949023). {ECO:0000269|PubMed:10949023, ECO:0000269|PubMed:19095005, ECO:0000269|PubMed:21339484}.; FUNCTION: [Junctophilin-2 N-terminal fragment]: Transcription repressor required to safeguard against the deleterious effects of cardiac stress (PubMed:30409805). Generated following cleavage of the Junctophilin-2 chain by calpain in response to cardiac stress in cardiomyocytes (PubMed:30409805). 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 (PubMed:30409805). Modifies the transcription profile and thereby attenuates pathological remodeling in response to cardiac stress (PubMed:30409805). Probably acts by competing with MEF2 transcription factors and TATA-binding proteins (PubMed:30409805). {ECO:0000269|PubMed:30409805}.
uniprot
proteins
mass_dalton
74692
uniprot
proteins
mutagenesis
MUTAGEN 153..158; /note="Missing: Abolishes cleavage by calpain at the N-terminus."; /evidence="ECO:0000269|PubMed:26063807"; MUTAGEN 399; /note="A->S: Decreased transverse tubule regularity and aberrant calcium handling in septal cardiomyocytes."; /evidence="ECO:0000269|PubMed:28393127"; MUTAGEN 488..492; /note="Missing: Abolishes nuclear localization of the Junctophilin-2 N-terminal fragment chain."; /evidence="ECO:0000269|PubMed:30409805"; MUTAGEN 563..568; /note="Missing: Abolishes cleavage by calpain at the C-terminus."; /evidence="ECO:0000269|PubMed:26063807
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved by calpain in response to cardiac stress (PubMed:26063807). The major cleavage site takes place at the C-terminus and leads to the release of the Junctophilin-2 N-terminal fragment chain (JP2NT) (PubMed:26063807, PubMed:30409805). {ECO:0000269|PubMed:26063807, ECO:0000269|PubMed:30409805}.; PTM: Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development. {ECO:0000250|UniProtKB:Q9BR39}.
uniprot
proteins
protein_family
Junctophilin family
uniprot
proteins
pubmed
10949023
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19095005
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21339484
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
26063807
uniprot
proteins
pubmed
28393127
uniprot
proteins
pubmed
30409805
uniprot
proteins
sequence_length
696
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Junctophilin-2]: Cell membrane {ECO:0000269|PubMed:10949023}; Peripheral membrane protein {ECO:0000269|PubMed:10949023}. Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:10949023}; Single-pass type IV membrane protein {ECO:0000269|PubMed:10949023}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10949023}; Single-pass type IV membrane protein {ECO:0000269|PubMed:10949023}. Note=The transmembrane domain is anchored in sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (PubMed:10949023). In heart cells, it predominantly associates along Z lines within myocytes (PubMed:10949023). In skeletal muscle, it is specifically localized at the junction of A and I bands (PubMed:10949023). {ECO:0000269|PubMed:10949023}.; SUBCELLULAR LOCATION: [Junctophilin-2 N-terminal fragment]: Nucleus {ECO:0000269|PubMed:30409805}. Note=Accumulates in the nucleus of stressed hearts. {ECO:0000269|PubMed:30409805}.
uniprot
proteins
transmembrane_region
TRANSMEM 675..695; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins