JPH2 (junctophilin 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57158
Gene name Gene Name - the full gene name approved by the HGNC.
Junctophilin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JPH2
Synonyms (NCBI Gene) Gene synonyms aliases
CMD2E, CMH17, JP-2, JP2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a comp
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs387906897 A>G Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs387906898 G>A Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs398124358 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign Genic downstream transcript variant, coding sequence variant, synonymous variant
rs531877510 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign Genic downstream transcript variant, coding sequence variant, synonymous variant
rs554853074 G>C Benign, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(306)
miRTarBase ID miRNA Experiments Reference
MIRT054386 hsa-miR-24-3p Luciferase reporter assay 22891046
MIRT054386 hsa-miR-24-3p Luciferase reporter assay 22891046
MIRT618947 hsa-miR-8485 HITS-CLIP 19536157
MIRT618945 hsa-miR-329-3p HITS-CLIP 19536157
MIRT618944 hsa-miR-362-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(39)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001046 Function Core promoter sequence-specific DNA binding ISS
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
GO:0001786 Function Phosphatidylserine binding IDA 24001019
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605267 14202 ENSG00000149596
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BR39
Protein name Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleaved into: Junctophilin-2 N-terminal fragment (JP2NT)]
Protein 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:20095964). Provides a st
PDB 7RXE , 7RXQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02493 MORN 14 → 36 MORN repeat Repeat
PF02493 MORN 38 → 59 MORN repeat Repeat
PF02493 MORN 60 → 78 MORN repeat Repeat
PF02493 MORN 82 → 103 MORN repeat Repeat
PF02493 MORN 106 → 128 MORN repeat Repeat
PF02493 MORN 129 → 151 MORN repeat Repeat
PF02493 MORN 291 → 313 MORN repeat Repeat
PF02493 MORN 314 → 336 MORN repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in skeletal muscle and heart. {ECO:0000269|PubMed:10891348}.
Sequence 
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTF
EGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGT
ETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSP
ASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKR
SGFGVSERSSGLRYEGEWLDNLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSN
KVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLAR
ELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRP
EGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPAT
ERMAIEALQAPPAPSREPEVALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPA
TAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKTEARGLTKAGAKKKARKEAAL
AAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT
Sequence length 696
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy rs587782951 N/A
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy 17, Primary familial hypertrophic cardiomyopathy rs754529157, rs1600482909, rs387906898, rs587782951 N/A
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cardiomyopathy cardiomyopathy, dilated, 2E, left ventricular noncompaction cardiomyopathy, Primary dilated cardiomyopathy, Cardiomyopathy, dilated, 2E N/A N/A GenCC, ClinVar
cardiomyopathy Cardiomyopathy N/A N/A ClinVar
Hypertension Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), Hypertension, High blood pressure / hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 33947203
Atrioventricular Block Associate 30235249
Cardiomyopathies Associate 17509612, 36357925
Cardiomyopathy Dilated Associate 17509612, 31227780, 32879264, 36129056
Cardiomyopathy Hypertrophic Associate 17509612, 22515980, 24001019, 30235249, 30681346, 31227780, 32777767, 32879264, 33947203, 35238659
Embryo Loss Associate 17509612
Heart Diseases Associate 31227780
Heart Failure Associate 30235249
Heart Failure Systolic Associate 30235249
Hyperplasia Associate 17509612