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Protein Page:
JPH2 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
JPH2 Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions. Defects in JPH2 are the cause of familial hypertrophic cardiomyopathy type 17 (CMH17). CMH17 is 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. Belongs to the junctophilin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Contractile protein; Endoplasmic reticulum
Cellular Component: junctional membrane complex; plasma membrane; integral to membrane; Z disc
Molecular Function: protein binding; phosphatidylinositol-4,5-bisphosphate binding; phosphatidylinositol-3,4,5-triphosphate binding; phosphatidylserine binding; calcium-release channel activity; phosphatidylinositol-5-phosphate binding; phosphatidylinositol 3-phosphate binding
Biological Process: calcium ion homeostasis; regulation of cardiac muscle development
Reference #:  Q9BR39 (UniProtKB)
Alt. Names/Synonyms: FLJ40969; JP-2; JP2; JPH2; junctophilin 2; Junctophilin type 2; Junctophilin-2
Gene Symbols: JPH2
Molecular weight: 74,222 Da
Basal Isoelectric point: 8.82  Predict pI for various phosphorylation states
Select Structure to View Below

JPH2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 K83 TKGRWLYKGEWTHGF
1 0 Y141-p TNGMRHGyGVRQSVP
0 3 S157-p GMAVVVRsPLRTsLs
0 1 T161 VVRsPLRTsLssLRs
0 5 S162-p VRsPLRTsLssLRsE
0 1 S164-p sPLRTsLssLRsEHs
2 2 S165-p PLRTsLssLRsEHsN
0 1 S168-p TsLssLRsEHsNGTV
0 1 S171-p ssLRsEHsNGTVAPD
0 2 S179-p NGTVAPDsPAsPASD
0 1 S182-p VAPDsPAsPASDGPA
0 1 S192-p SDGPALPsPAIPRGG
0 1 N207 FALSLLANAEAAARA
0 1 A233 LLGKLRRAESRTSVG
0 2 S235 GKLRRAESRTSVGSQ
0 2 T237 LRRAESRTSVGSQRS
0 2 S238 RRAESRTSVGSQRSR
0 2 S241 ESRTSVGSQRSRVSF
0 1 Y314-p ERSSGLRyEGEWLDN
0 1 S359-p RRMLQLKsNKVRQKV
0 1 K397 RTSHAKAKAEAAEQA
0 1 R420 NIARTLARELAPDFY
0 3 K435 QPGPEYQKRRLLQEI
0 1 S448-p EILENSEsLLEPPDR
0 6 S469-p LPQPPREsPQLHERE
0 5 T477-p PQLHEREtPRPEGGs
0 5 S484-p tPRPEGGsPsPAGtP
0 13 S486-p RPEGGsPsPAGtPPQ
0 15 T490-p GsPsPAGtPPQPKRP
0 1 S502-p KRPRPGVsKDGLLsP
0 1 S508-p VsKDGLLsPGAWNGE
0 1 A511 DGLLsPGAWNGEPSG
0 1 S521 GEPSGEGSRSVTPSE
0 1 T525 GEGSRSVTPSEGAGR
0 1 S592 PEPEVSGSESAPSSP
0 2 S594 PEVSGSESAPSSPAT
0 3 S598 GSESAPSSPATAPLQ
0 1 T601 SAPSSPATAPLQAPT
0 2 - gap
0 1 - gap
0 81 K647-ac TEARGLTkAGAkKKA
0 1 K647-ub TEARGLTkAGAkKKA
0 73 K651-ac GLTkAGAkKKARKEA
  mouse

 
K83-ub TKGRWLYkGEWTHGF
Y141 TNGMRHGYGVRQSVP
S157 GMAVVVRSPLRtsLs
T161-p VVRSPLRtsLssLRs
S162-p VRSPLRtsLssLRsE
S164-p SPLRtsLssLRsEHS
S165-p PLRtsLssLRsEHSN
S168-p tsLssLRsEHSNGTV
S171 ssLRsEHSNGTVAPD
S179 NGTVAPDSPAADGPM
- under review  
S189 ADGPMLPSPPVPRGG
T204-p FALTLLAtAEAARPQ
S226-p LLGRLRRsEsRtsLG
S228-p GRLRRsEsRtsLGsQ
T230-p LRRsEsRtsLGsQRS
S231-p RRsEsRtsLGsQRSR
S234-p EsRtsLGsQRSRLSF
Y308 ERSSGLRYEGEWLDN
S353 RRVLPLKSSKVRQKV
K391-ub RTSHAKAkAEAAEQA
K414-ub NIARTLAkELAPDFY
K429-ub QPGPEYQkRRLLQEI
S442 EILENSESLLEPPER
S462-p LPERPREsPQLHERE
T470-p PQLHEREtPQPEGGP
P477 tPQPEGGPPsPAGtP
S479-p QPEGGPPsPAGtPPQ
T483-p GPPsPAGtPPQPKRP
S495 KRPRPGASKDGLLSP
S501 ASKDGLLSPGsWNGE
S504-p DGLLSPGsWNGEPGG
S514-p GEPGGEGsRPAtPSD
T518-p GEGsRPAtPSDGAGR
S591-p PEPEVRRsDsAPPsP
S593-p PEVRRsDsAPPsPVs
S597-p RsDsAPPsPVsATVP
S600-p sAPPsPVsATVPEEE
S613-p EEPPAPRsPVPAkQA
K618-ub PRsPVPAkQATLEPK
K647 TEARGLSKAGAKKKG
K647 TEARGLSKAGAKKKG
K651 GLSKAGAKKKGRKEV
  rat

 
K83 TKGRWLYKGEWTHGF
Y141 TNGMRHGYGVRQSVP
S157 GMAVVVRSPLRTSLS
T161 VVRSPLRTSLSSLRS
S162 VRSPLRTSLSSLRSE
S164 SPLRTSLSSLRSEHS
S165 PLRTSLSSLRSEHSN
S168 TSLSSLRSEHSNGTV
S171 SSLRSEHSNGTVAPD
S179 NGTVAPDSPAADGPT
- under review  
L189 ADGPTLPLPPVPRGG
T204 FALSLLATAEAARPP
S226 LLGRLRRSESRTSLG
S228 GRLRRSESRTSLGSQ
T230 LRRSESRTSLGSQRS
S231 RRSESRTSLGSQRSR
S234 ESRTSLGSQRSRLSF
Y308-p ERSSGLRyEGEWLDN
S353 RRVLPLKSNKVRQKV
K391 RTSHAKAKAEAAEQA
K414 NIARTLAKELAPDFY
K429 QPGPEYQKRRLLQEI
S442 EILENSESLLEPRER
S462 LPERPRESPQLHERE
T470 PQLHERETPQPEGGP
P477 TPQPEGGPPSPAGTP
S479 QPEGGPPSPAGTPPQ
T483 GPPSPAGTPPQPKRP
S495 KRPRPGSSKDGLLSP
S501 SSKDGLLSPGAWNGE
A504 DGLLSPGAWNGEPGG
S514 GEPGGEGSRPATPSD
T518 GEGSRPATPSDGAGR
S587 PEPEVPRSDSEPPSP
S589 PEVPRSDSEPPSPVS
S593 RSDSEPPSPVSATVQ
S596 SEPPSPVSATVQEEE
S609 EESPAPRSRVPAKPA
K614 PRSRVPAKPATLEPK
K643 TEARGLSKAGAKKKG
K643 TEARGLSKAGAKKKG
K647 GLSKAGAKKKGRKEV
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