Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57338
Gene name	Junctophilin 3
Gene symbol	JPH3
Synonyms (NCBI Gene)	CAGL237HDL2JP-3JP3TNRC22
Chromosome	16
Chromosome location	16q24.2
Summary	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

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Show/Hide all (147)

miRTarBase ID	miRNA	Experiments	Reference
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT1077565	hsa-miR-103a	CLIP-seq
MIRT1077566	hsa-miR-107	CLIP-seq
MIRT1077567	hsa-miR-1237	CLIP-seq
MIRT1077568	hsa-miR-148a	CLIP-seq
MIRT1077569	hsa-miR-148b	CLIP-seq
MIRT1077570	hsa-miR-152	CLIP-seq
MIRT1077571	hsa-miR-1587	CLIP-seq
MIRT1077572	hsa-miR-1825	CLIP-seq
MIRT1077573	hsa-miR-186	CLIP-seq
MIRT1077574	hsa-miR-188-5p	CLIP-seq
MIRT1077575	hsa-miR-1913	CLIP-seq
MIRT1077576	hsa-miR-1976	CLIP-seq
MIRT1077577	hsa-miR-199a-5p	CLIP-seq
MIRT1077578	hsa-miR-199b-5p	CLIP-seq
MIRT1077579	hsa-miR-3120-5p	CLIP-seq
MIRT1077580	hsa-miR-3133	CLIP-seq
MIRT1077581	hsa-miR-3182	CLIP-seq
MIRT1077582	hsa-miR-3189-5p	CLIP-seq
MIRT1077583	hsa-miR-324-3p	CLIP-seq
MIRT1077584	hsa-miR-342-3p	CLIP-seq
MIRT1077585	hsa-miR-3620	CLIP-seq
MIRT1077586	hsa-miR-377	CLIP-seq
MIRT1077587	hsa-miR-378g	CLIP-seq
MIRT1077588	hsa-miR-3908	CLIP-seq
MIRT1077589	hsa-miR-3942-5p	CLIP-seq
MIRT1077590	hsa-miR-3944-5p	CLIP-seq
MIRT1077591	hsa-miR-4280	CLIP-seq
MIRT1077592	hsa-miR-4492	CLIP-seq
MIRT1077593	hsa-miR-4498	CLIP-seq
MIRT1077594	hsa-miR-4633-3p	CLIP-seq
MIRT1077595	hsa-miR-4656	CLIP-seq
MIRT1077596	hsa-miR-4675	CLIP-seq
MIRT1077597	hsa-miR-4695-3p	CLIP-seq
MIRT1077598	hsa-miR-4703-5p	CLIP-seq
MIRT1077599	hsa-miR-4722-3p	CLIP-seq
MIRT1077600	hsa-miR-4741	CLIP-seq
MIRT1077601	hsa-miR-4758-3p	CLIP-seq
MIRT1077602	hsa-miR-4766-3p	CLIP-seq
MIRT1077603	hsa-miR-762	CLIP-seq
MIRT1077604	hsa-miR-767-3p	CLIP-seq
MIRT1077567	hsa-miR-1237	CLIP-seq
MIRT2019270	hsa-miR-1269	CLIP-seq
MIRT2019271	hsa-miR-1269b	CLIP-seq
MIRT2019272	hsa-miR-1288	CLIP-seq
MIRT2019273	hsa-miR-1827	CLIP-seq
MIRT2019274	hsa-miR-4487	CLIP-seq
MIRT2019275	hsa-miR-4515	CLIP-seq
MIRT2019276	hsa-miR-4529-3p	CLIP-seq
MIRT1077594	hsa-miR-4633-3p	CLIP-seq
MIRT2019277	hsa-miR-4724-5p	CLIP-seq
MIRT2019278	hsa-miR-4740-5p	CLIP-seq
MIRT2251152	hsa-miR-3918	CLIP-seq
MIRT2251153	hsa-miR-4640-5p	CLIP-seq
MIRT2251154	hsa-miR-4726-5p	CLIP-seq
MIRT2251155	hsa-miR-541	CLIP-seq
MIRT2251156	hsa-miR-654-5p	CLIP-seq
MIRT2452089	hsa-miR-330-3p	CLIP-seq
MIRT2452090	hsa-miR-3714	CLIP-seq
MIRT2452091	hsa-miR-4708-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	TAS	19095005
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	TAS	19095005
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	IEA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	19095005
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10891348
GO:0030314	Component	Junctional membrane complex	IBA
GO:0030314	Component	Junctional membrane complex	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0040011	Process	Locomotion	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060402	Process	Calcium ion transport into cytosol	IEA
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005

MIM	HGNC	e!Ensembl
605268	14203	ENSG00000154118

Q8WXH2

Protein name

Junctophilin-3 (JP-3) (Junctophilin type 3) (Trinucleotide repeat-containing gene 22 protein)

Protein 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 betwee

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02493	MORN	15 → 37	MORN repeat	Repeat
PF02493	MORN	39 → 60	MORN repeat	Repeat
PF02493	MORN	61 → 80	MORN repeat	Repeat
PF02493	MORN	83 → 104	MORN repeat	Repeat
PF02493	MORN	107 → 129	MORN repeat	Repeat
PF02493	MORN	130 → 152	MORN repeat	Repeat
PF02493	MORN	288 → 310	MORN repeat	Repeat
PF02493	MORN	311 → 333	MORN repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:10891348}.

Sequence

MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNT
YQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYG
TETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPD
ASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSK
QSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
GVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIR
EKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSF
PTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSR
GVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQ
NKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKS
STGSAPILVVMVILLNIGVAILFINFFI

Sequence length

748

Interactions

View interactions

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs201540001, rs35224773	RCV005905924 RCV005907791
Adrenocortical carcinoma, hereditary	Benign	rs35224773	RCV005907792
Cervical cancer	Benign; Likely benign	rs149647215, rs144950183	RCV005922309 RCV005902881
Colon adenocarcinoma	Benign	rs34442559	RCV005902662
Familial cancer of breast	Benign; Likely benign	rs201540001	RCV005905923
Gastric cancer	Benign; Likely benign	rs201540001	RCV005905926
Huntington disease-like 2	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs148131421, rs78661943, rs144296512	RCV000662143 RCV002489341 RCV001253288
JPH3-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs2507483451, rs8051448, rs374849409, rs199869682, rs144403955, rs200715575, rs146321235, rs749947688, rs370408306, rs9934222, rs3751725, rs147830852, rs143432868, rs144296512, rs111568864, rs144550250 View all (1 more)	RCV003901629 RCV003964449 RCV003909534 RCV003911909 RCV003914128 RCV003944072 RCV003971999 RCV003937087 RCV003947226 RCV003981896 RCV003981982 RCV003971455 RCV003943104 RCV003905811 RCV003916047 RCV003910472
Malignant lymphoma, large B-cell, diffuse	Benign	rs3751725	RCV005937183
Malignant tumor of esophagus	Benign; Likely benign	rs201540001	RCV005905925
Melanoma	Benign	rs35224773	RCV005907793
Ovarian serous cystadenocarcinoma	Benign	rs34442559	RCV005902663
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs149647215	RCV005922311
Uterine carcinosarcoma	Benign; Likely benign	rs149647215, rs3751725, rs34442559	RCV005922310 RCV005937184 RCV005902664
Uterine corpus endometrial carcinoma	Benign	rs34442559	RCV005902665

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	24736723
Anemia Sickle Cell	Associate	28436274
Angina Unstable	Associate	26485305
Breast Neoplasms	Associate	26970778
Carcinoma Hepatocellular	Associate	35169860
Chorea	Associate	33824468
Cognition Disorders	Associate	33824468
Colorectal Neoplasms	Associate	28656064
Coronary Artery Disease	Associate	20307520
Dystonia	Associate	33824468
Glomerulonephritis Membranous	Stimulate	28656064
Glucose Intolerance	Associate	8432854
Huntington Disease	Associate	26079385, 33824468
Huntington Disease Like 2	Associate	26079385, 28656064
Huntington Disease Like Syndrome	Associate	26079385
Hyperlipoproteinemia Type II	Associate	6492484
Hypoalphalipoproteinemias	Associate	16858508
Language Disorders	Associate	33824468
Microcephaly with Mental Retardation and Digital Anomalies	Associate	33824468
Movement Disorders	Associate	33824468
Multiple Pterygium Syndrome Autosomal Dominant	Associate	33824468
Neoplasm Metastasis	Associate	28656064
Neoplasms	Associate	26970778, 28656064
Neuroacanthocytosis	Associate	39292690
Neuromuscular Diseases	Associate	24269018
Oliguria	Associate	20797315
Social Communication Disorder	Associate	33824468
Stomatitis	Associate	25218607
Weight Loss	Associate	28545455

JPH3 (junctophilin 3)