JPH2_HUMAN » Junctophilin-2

JPH2_HUMAN » Junctophilin-2
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Topology in Endoplasmic reticulum membrane
Topologylumenal side
cytoplasmic side
JPH2_HUMAN » Junctophilin-2 » JP-2; Junctophilin type 2;
Hydrophobic Thickness 32.8 ± 2.7 Å
Tilt Angle 8 ± 6°
ΔGtransfer -20.0 kcal/mol
ΔGfold -15.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 674-695 (674-695)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 14-36, PDBID: 1H3I, Subunit B, Seq Identity:26%, MORN repeat

AA: 38-59, PDBID: 1H3I, Subunit B, Seq Identity:29%, MORN repeat

AA: 60-78, PDBID: 1H3I, Subunit B, Seq Identity:26%, MORN repeat

AA: 82-103, PDBID: 1H3I, Subunit B, Seq Identity:23%, MORN repeat

AA: 106-128, PDBID: 1H3I, Subunit B, Seq Identity:41%, MORN repeat

AA: 129-151, PDBID: 1H3I, Subunit B, Seq Identity:25%, MORN repeat

AA: 291-313, PDBID: 1H3I, Subunit B, Seq Identity:29%, MORN repeat

AA: 314-336, PDBID: 1H3I, Subunit B, Seq Identity:40%, MORN repeat

UniProt annotation for JPH2_HUMAN » Junctophilin-2
FUNCTION: 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.

TISSUE SPECIFICITY: Specifically expressed in skeletal muscle and heart.

DOMAIN: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, by interacting with phospholipids. Has affinity for phosphatidylserine, and phosphorylated phosphatidylinositols including PtdIns3P, PtdIns4P, PtdIns5P, PtdIns(3,5)P2 and PtdIns(3,4,5)P3.

DISEASE: Cardiomyopathy, familial hypertrophic 17 (CMH17) OMIM: 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. mutations affecting the gene represented in this entry.

UniProt features for JPH2_HUMAN » Junctophilin-2
CHAIN 1 696 Junctophilin-2.
REPEAT 14 36 MORN 1.
REPEAT 38 59 MORN 2.
REPEAT 60 79 MORN 3.
REPEAT 82 104 MORN 4.
REPEAT 106 128 MORN 5.
REPEAT 129 151 MORN 6.
REPEAT 291 313 MORN 7.
REPEAT 314 336 MORN 8.
Amino Acid Sequence for JPH2_HUMAN » Junctophilin-2
MSGGRFDFDD GGAYCGGWEG GKAHGHGLCT GPKGQGEYSG SWNFGFEVAG VYTWPSGNTF EGYWSQGKRH GLGIETKGRW LYKGEWTHGF KGRYGIRQSS SSGAKYEGTW NNGLQDGYGT ETYADGGTYQ GQFTNGMRHG YGVRQSVPYG MAVVVRSPLR TSLSSLRSEH SNGTVAPDSP ASPASDGPAL PSPAIPRGGF ALSLLANAEA AARAPKGGGL FQRGALLGKL RRAESRTSVG SQRSRVSFLK SDLSSGASDA ASTASLGEAA EGADEAAPFE ADIDATTTET YMGEWKNDKR SGFGVSERSS GLRYEGEWLD NLRHGYGCTT LPDGHREEGK YRHNVLVKDT KRRMLQLKSN KVRQKVEHSV EGAQRAAAIA RQKAEIAASR TSHAKAKAEA AEQAALAANQ ESNIARTLAR ELAPDFYQPG PEYQKRRLLQ EILENSESLL EPPDRGAGAA GLPQPPRESP QLHERETPRP EGGSPSPAGT PPQPKRPRPG VSKDGLLSPG AWNGEPSGEG SRSVTPSEGA GRRSPARPAT ERMAIEALQA PPAPSREPEV ALYQGYHSYA VRTTPPEPPP FEDQPEPEVS GSESAPSSPA TAPLQAPTLR GPEPARETPA KLEPKPIIPK AEPRAKARKT EARGLTKAGA KKKARKEAAL AAEAEVEVEE VPNTILICMV ILLNIGLAIL FVHLLT