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Entry version 154 (08 May 2019)
Sequence version 2 (17 Jan 2003)
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Protein

Junctophilin-2

Gene

JPH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 Ca2+ 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 Ca2+ 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).By similarity1 Publication
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.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Junctophilin-21 Publication
Short name:
JP-21 Publication
Alternative name(s):
Junctophilin type 21 Publication
Cleaved into the following chain:
Junctophilin-2 N-terminal fragmentBy similarity
Short name:
JP2NTBy similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:JPH2Imported
Synonyms:JP21 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:14202 JPH2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605267 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BR39

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 674CytoplasmicSequence analysisAdd BLAST674
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei675 – 695Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Nucleus, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cardiomyopathy, familial hypertrophic 17 (CMH17)4 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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_081288161T → K in CMH17. 1 PublicationCorresponds to variant dbSNP:rs587782951EnsemblClinVar.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_081290405A → S in CMH17; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs557878787EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57158

MalaCards human disease database

More...
MalaCardsi
JPH2
MIMi613873 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149596

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29999

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
JPH2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
27805486

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001598471 – 696Junctophilin-2Add BLAST696
ChainiPRO_00004463751 – 572Junctophilin-2 N-terminal fragmentBy similarityAdd BLAST572

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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
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).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei155 – 156Cleavage; by calpainBy similarity2
Sitei204 – 205Cleavage; by calpainBy similarity2
Sitei572 – 573Cleavage; by calpainBy similarity2

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BR39

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BR39

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BR39

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BR39

PeptideAtlas

More...
PeptideAtlasi
Q9BR39

PRoteomics IDEntifications database

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PRIDEi
Q9BR39

ProteomicsDB human proteome resource

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ProteomicsDBi
78740
78741 [Q9BR39-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BR39

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9BR39

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Specifically expressed in skeletal muscle and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000149596 Expressed in 133 organ(s), highest expression level in heart left ventricle

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BR39 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA052646

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TRPC3 (PubMed:20095964). Junctophilin-2 N-terminal fragment: Interacts with MEF2C (By similarity).By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121414, 1 interactor

Protein interaction database and analysis system

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IntActi
Q9BR39, 15 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000362071

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BR39

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati14 – 36MORN 1Sequence analysisAdd BLAST23
Repeati38 – 59MORN 2Sequence analysisAdd BLAST22
Repeati60 – 79MORN 3Sequence analysisAdd BLAST20
Repeati82 – 104MORN 4Sequence analysisAdd BLAST23
Repeati106 – 128MORN 5Sequence analysisAdd BLAST23
Repeati129 – 151MORN 6Sequence analysisAdd BLAST23
Repeati291 – 313MORN 7Sequence analysisAdd BLAST23
Repeati314 – 336MORN 8Sequence analysisAdd BLAST23

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi351 – 365Bipartite nuclear localization signalBy similarityAdd BLAST15
Motifi495 – 499Nuclear localization signalBy similarity5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi3 – 142Gly-richAdd BLAST140
Compositional biasi373 – 408Ala-richAdd BLAST36
Compositional biasi452 – 633Pro-richAdd BLAST182

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, by interacting with phospholipids (PubMed:24001019). Has affinity for phosphatidylserine, and phosphorylated phosphatidylinositols including PtdIns3P, PtdIns4P, PtdIns5P, PtdIns(3,5)P2 and PtdIns(3,4,5)P3 (PubMed:24001019).1 Publication
Junctophilin-2 N-terminal fragment: The bipartite nuclear localization signal (bNLS) and Ala-rich (alanine-rich; ARR) regions are involved in DNA-binding.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the junctophilin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0231 Eukaryota
COG4642 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159411

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000264244

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BR39

KEGG Orthology (KO)

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KOi
K19530

Identification of Orthologs from Complete Genome Data

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OMAi
EGPNTIM

Database of Orthologous Groups

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OrthoDBi
614199at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BR39

TreeFam database of animal gene trees

More...
TreeFami
TF317210

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN

The PANTHER Classification System

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PANTHERi
PTHR23085 PTHR23085, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02493 MORN, 8 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037387 Junctophilin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00698 MORN, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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_08128785E → K Probable disease-associated mutation found in a patient with dilated cardiomyopathy. 1 Publication1
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_081288161T → K in CMH17. 1 PublicationCorresponds to variant dbSNP:rs587782951EnsemblClinVar.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_081289169E → K Probable disease-associated mutation found in a patient with atrial fibrillation. 1 Publication1
Natural variantiVAR_053447396A → T. Corresponds to variant dbSNP:rs3810510EnsemblClinVar.1
Natural variantiVAR_081290405A → S in CMH17; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs557878787EnsemblClinVar.1
Natural variantiVAR_065474436R → C1 PublicationCorresponds to variant dbSNP:rs1326977511EnsemblClinVar.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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS13325.1 [Q9BR39-1]
CCDS13326.1 [Q9BR39-2]

NCBI Reference Sequences

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RefSeqi
NP_065166.2, NM_020433.4 [Q9BR39-1]
NP_787109.2, NM_175913.3 [Q9BR39-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342272; ENSP00000344590; ENSG00000149596 [Q9BR39-2]
ENST00000372980; ENSP00000362071; ENSG00000149596 [Q9BR39-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57158

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57158

UCSC genome browser

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UCSCi
uc002xli.2 human [Q9BR39-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9BR39
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121414, 1 interactor
IntActiQ9BR39, 15 interactors
STRINGi9606.ENSP00000362071

PTM databases

iPTMnetiQ9BR39
PhosphoSitePlusiQ9BR39

Polymorphism and mutation databases

BioMutaiJPH2
DMDMi27805486

Proteomic databases

EPDiQ9BR39
jPOSTiQ9BR39
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

Comparative Toxicogenomics Database

More...
CTDi
57158
DisGeNETi57158

GeneCards: human genes, protein and diseases

More...
GeneCardsi
JPH2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0015833
HGNCiHGNC:14202 JPH2
HPAiHPA052646
MalaCardsiJPH2
MIMi605267 gene
613873 phenotype
neXtProtiNX_Q9BR39
OpenTargetsiENSG00000149596
Orphaneti155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA29999

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00940000159411
HOGENOMiHOG000264244
InParanoidiQ9BR39
KOiK19530
OMAiEGPNTIM
OrthoDBi614199at2759
PhylomeDBiQ9BR39
TreeFamiTF317210

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
JPH2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
JPH2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57158

Protein Ontology

More...
PROi
PR:Q9BR39

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiJPH2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BR39
Secondary accession number(s): E1P5X1
, O95913, Q5JY74, Q9UJN4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: January 17, 2003
Last modified: May 8, 2019
This is version 154 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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