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Protein

Junctophilin-2

Gene

JPH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 Ca2+ signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.1 Publication

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Junctophilin-2
Short name:
JP-2
Alternative name(s):
Junctophilin type 2
Gene namesi
Name:JPH2
Synonyms:JP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000149596.6
HGNCiHGNC:14202 JPH2
MIMi605267 gene
neXtProtiNX_Q9BR39

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 674CytoplasmicSequence analysisAdd BLAST674
Transmembranei675 – 695Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 17 (CMH17)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613873
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065471101S → R in CMH17; modifies the secondary structure of the protein which is more flexible but does not undergo structural transition upon binding to membrane lipids; increases the affinity for phosphatidylserine; affects intracellular calcium handling and homeostasis. 2 Publications1
Natural variantiVAR_065472141Y → H in CMH17; results in vacuolization of intracellular structures and cardiomyocyte hypertrophy; affects intracellular calcium handling and homeostasis. 1 PublicationCorresponds to variant dbSNP:rs387906897EnsemblClinVar.1
Natural variantiVAR_065473165S → F in CMH17; results in vacuolization of intracellular structures and cardiomyocyte hypertrophy; affects intracellular calcium handling and homeostasis. Greatly reduced phosphorylation. Increased myotube diameter. Reduced RYR1 activity and EC gain. Disruption of interaction with TRPC3. 2 PublicationsCorresponds to variant dbSNP:rs387906898EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi57158
MalaCardsiJPH2
MIMi613873 phenotype
OpenTargetsiENSG00000149596
Orphaneti155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA29999

Polymorphism and mutation databases

BioMutaiJPH2
DMDMi27805486

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001598471 – 696Junctophilin-2Add BLAST696

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162PhosphoserineBy similarity1
Modified residuei165Phosphoserine1 Publication1
Modified residuei446PhosphoserineBy similarity1
Modified residuei448PhosphoserineBy similarity1
Modified residuei469PhosphoserineCombined sources1
Modified residuei477PhosphothreonineBy similarity1
Modified residuei484PhosphoserineCombined sources1
Modified residuei486PhosphoserineCombined sources1
Modified residuei490PhosphothreonineCombined sources1
Modified residuei534PhosphoserineBy similarity1
Modified residuei594PhosphoserineBy similarity1
Modified residuei598PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3, and skeletal muscle myotubule development.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BR39
MaxQBiQ9BR39
PaxDbiQ9BR39
PeptideAtlasiQ9BR39
PRIDEiQ9BR39
ProteomicsDBi78740
78741 [Q9BR39-2]

PTM databases

iPTMnetiQ9BR39
PhosphoSitePlusiQ9BR39

Expressioni

Tissue specificityi

Specifically expressed in skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiENSG00000149596 Expressed in 133 organ(s), highest expression level in heart left ventricle
CleanExiHS_JPH2
GenevisibleiQ9BR39 HS

Organism-specific databases

HPAiHPA052646

Interactioni

Protein-protein interaction databases

BioGridi121414, 1 interactor
STRINGi9606.ENSP00000362071

Structurei

3D structure databases

ProteinModelPortaliQ9BR39
SMRiQ9BR39
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati14 – 36MORN 1Add BLAST23
Repeati38 – 59MORN 2Add BLAST22
Repeati60 – 79MORN 3Add BLAST20
Repeati82 – 104MORN 4Add BLAST23
Repeati106 – 128MORN 5Add BLAST23
Repeati129 – 151MORN 6Add BLAST23
Repeati291 – 313MORN 7Add BLAST23
Repeati314 – 336MORN 8Add BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 142Gly-richAdd BLAST140
Compositional biasi373 – 408Ala-richAdd BLAST36
Compositional biasi452 – 633Pro-richAdd BLAST182

Domaini

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)P3.1 Publication

Sequence similaritiesi

Belongs to the junctophilin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ9BR39
KOiK19530
OMAiTIMICMV
OrthoDBiEOG091G03WX
PhylomeDBiQ9BR39
TreeFamiTF317210

Family and domain databases

InterProiView protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN
PANTHERiPTHR23085 PTHR23085, 1 hit
PfamiView protein in Pfam
PF02493 MORN, 8 hits
PIRSFiPIRSF037387 Junctophilin, 1 hit
SMARTiView protein in SMART
SM00698 MORN, 6 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BR39-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGGRFDFDD GGAYCGGWEG GKAHGHGLCT GPKGQGEYSG SWNFGFEVAG
60 70 80 90 100
VYTWPSGNTF EGYWSQGKRH GLGIETKGRW LYKGEWTHGF KGRYGIRQSS
110 120 130 140 150
SSGAKYEGTW NNGLQDGYGT ETYADGGTYQ GQFTNGMRHG YGVRQSVPYG
160 170 180 190 200
MAVVVRSPLR TSLSSLRSEH SNGTVAPDSP ASPASDGPAL PSPAIPRGGF
210 220 230 240 250
ALSLLANAEA AARAPKGGGL FQRGALLGKL RRAESRTSVG SQRSRVSFLK
260 270 280 290 300
SDLSSGASDA ASTASLGEAA EGADEAAPFE ADIDATTTET YMGEWKNDKR
310 320 330 340 350
SGFGVSERSS GLRYEGEWLD NLRHGYGCTT LPDGHREEGK YRHNVLVKDT
360 370 380 390 400
KRRMLQLKSN KVRQKVEHSV EGAQRAAAIA RQKAEIAASR TSHAKAKAEA
410 420 430 440 450
AEQAALAANQ ESNIARTLAR ELAPDFYQPG PEYQKRRLLQ EILENSESLL
460 470 480 490 500
EPPDRGAGAA GLPQPPRESP QLHERETPRP EGGSPSPAGT PPQPKRPRPG
510 520 530 540 550
VSKDGLLSPG AWNGEPSGEG SRSVTPSEGA GRRSPARPAT ERMAIEALQA
560 570 580 590 600
PPAPSREPEV ALYQGYHSYA VRTTPPEPPP FEDQPEPEVS GSESAPSSPA
610 620 630 640 650
TAPLQAPTLR GPEPARETPA KLEPKPIIPK AEPRAKARKT EARGLTKAGA
660 670 680 690
KKKARKEAAL AAEAEVEVEE VPNTILICMV ILLNIGLAIL FVHLLT
Length:696
Mass (Da):74,222
Last modified:January 17, 2003 - v2
Checksum:i80D62652CE48548B
GO
Isoform 2 (identifier: Q9BR39-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-129: TY → MC
     130-696: Missing.

Note: No experimental confirmation available.
Show »
Length:129
Mass (Da):13,951
Checksum:iF2008165B64B104B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065471101S → R in CMH17; modifies the secondary structure of the protein which is more flexible but does not undergo structural transition upon binding to membrane lipids; increases the affinity for phosphatidylserine; affects intracellular calcium handling and homeostasis. 2 Publications1
Natural variantiVAR_065472141Y → H in CMH17; results in vacuolization of intracellular structures and cardiomyocyte hypertrophy; affects intracellular calcium handling and homeostasis. 1 PublicationCorresponds to variant dbSNP:rs387906897EnsemblClinVar.1
Natural variantiVAR_065473165S → F in CMH17; results in vacuolization of intracellular structures and cardiomyocyte hypertrophy; affects intracellular calcium handling and homeostasis. Greatly reduced phosphorylation. Increased myotube diameter. Reduced RYR1 activity and EC gain. Disruption of interaction with TRPC3. 2 PublicationsCorresponds to variant dbSNP:rs387906898EnsemblClinVar.1
Natural variantiVAR_053447396A → T. Corresponds to variant dbSNP:rs3810510EnsemblClinVar.1
Natural variantiVAR_065474436R → C1 PublicationCorresponds to variant dbSNP:rs1326977511Ensembl.1
Natural variantiVAR_065475505G → S in patients with cardiomyopathy; does not affect protein conformation as shown by circular dichroism; a patient with cardiomyopathy also carries V-26 and C-513 in MYH7. 1 PublicationCorresponds to variant dbSNP:rs140740776EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002785128 – 129TY → MC in isoform 2. 1 Publication2
Alternative sequenceiVSP_002786130 – 696Missing in isoform 2. 1 PublicationAdd BLAST567

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL132999 mRNA Translation: CAB61347.1
AL035447 Genomic DNA No translation available.
AL034419 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75940.1
CH471077 Genomic DNA Translation: EAW75943.1
CCDSiCCDS13325.1 [Q9BR39-1]
CCDS13326.1 [Q9BR39-2]
RefSeqiNP_065166.2, NM_020433.4 [Q9BR39-1]
NP_787109.2, NM_175913.3 [Q9BR39-2]
UniGeneiHs.441737

Genome annotation databases

EnsembliENST00000342272; ENSP00000344590; ENSG00000149596 [Q9BR39-2]
ENST00000372980; ENSP00000362071; ENSG00000149596 [Q9BR39-1]
GeneIDi57158
KEGGihsa:57158
UCSCiuc002xli.2 human [Q9BR39-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL132999 mRNA Translation: CAB61347.1
AL035447 Genomic DNA No translation available.
AL034419 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75940.1
CH471077 Genomic DNA Translation: EAW75943.1
CCDSiCCDS13325.1 [Q9BR39-1]
CCDS13326.1 [Q9BR39-2]
RefSeqiNP_065166.2, NM_020433.4 [Q9BR39-1]
NP_787109.2, NM_175913.3 [Q9BR39-2]
UniGeneiHs.441737

3D structure databases

ProteinModelPortaliQ9BR39
SMRiQ9BR39
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121414, 1 interactor
STRINGi9606.ENSP00000362071

PTM databases

iPTMnetiQ9BR39
PhosphoSitePlusiQ9BR39

Polymorphism and mutation databases

BioMutaiJPH2
DMDMi27805486

Proteomic databases

EPDiQ9BR39
MaxQBiQ9BR39
PaxDbiQ9BR39
PeptideAtlasiQ9BR39
PRIDEiQ9BR39
ProteomicsDBi78740
78741 [Q9BR39-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342272; ENSP00000344590; ENSG00000149596 [Q9BR39-2]
ENST00000372980; ENSP00000362071; ENSG00000149596 [Q9BR39-1]
GeneIDi57158
KEGGihsa:57158
UCSCiuc002xli.2 human [Q9BR39-1]

Organism-specific databases

CTDi57158
DisGeNETi57158
EuPathDBiHostDB:ENSG00000149596.6
GeneCardsiJPH2
H-InvDBiHIX0015833
HGNCiHGNC:14202 JPH2
HPAiHPA052646
MalaCardsiJPH2
MIMi605267 gene
613873 phenotype
neXtProtiNX_Q9BR39
OpenTargetsiENSG00000149596
Orphaneti155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA29999
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ9BR39
KOiK19530
OMAiTIMICMV
OrthoDBiEOG091G03WX
PhylomeDBiQ9BR39
TreeFamiTF317210

Miscellaneous databases

ChiTaRSiJPH2 human
GeneWikiiJPH2
GenomeRNAii57158
PROiPR:Q9BR39
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149596 Expressed in 133 organ(s), highest expression level in heart left ventricle
CleanExiHS_JPH2
GenevisibleiQ9BR39 HS

Family and domain databases

InterProiView protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN
PANTHERiPTHR23085 PTHR23085, 1 hit
PfamiView protein in Pfam
PF02493 MORN, 8 hits
PIRSFiPIRSF037387 Junctophilin, 1 hit
SMARTiView protein in SMART
SM00698 MORN, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiJPH2_HUMAN
AccessioniPrimary (citable) accession number: Q9BR39
Secondary accession number(s): E1P5X1
, O95913, Q5JY74, Q9UJN4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: January 17, 2003
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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