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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	56704
Gene name	Junctophilin 1
Gene symbol	JPH1
Synonyms (NCBI Gene)	CMT2KCMYO25JP-1JP1
Chromosome	8
Chromosome location	8q21.11
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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SNP ID	Visualize variation	Clinical significance	Consequence
rs201314759	C>G,T	Risk-factor, benign	Missense variant, coding sequence variant

144

Show/Hide all (144)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025712	hsa-miR-7-5p	Sequencing	20371350
MIRT030841	hsa-miR-21-5p	Microarray	18591254
MIRT048673	hsa-miR-99a-5p	CLASH	23622248
MIRT048572	hsa-miR-100-5p	CLASH	23622248
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT718022	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT718021	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT718020	hsa-miR-330-3p	HITS-CLIP	19536157
MIRT718019	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT718018	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT718017	hsa-miR-4751	HITS-CLIP	19536157
MIRT1077473	hsa-miR-150	CLIP-seq
MIRT1077474	hsa-miR-15a	CLIP-seq
MIRT1077475	hsa-miR-15b	CLIP-seq
MIRT1077476	hsa-miR-16	CLIP-seq
MIRT1077477	hsa-miR-195	CLIP-seq
MIRT1077478	hsa-miR-2117	CLIP-seq
MIRT1077479	hsa-miR-214	CLIP-seq
MIRT1077480	hsa-miR-331-3p	CLIP-seq
MIRT1077481	hsa-miR-3607-5p	CLIP-seq
MIRT1077482	hsa-miR-3619-5p	CLIP-seq
MIRT1077483	hsa-miR-3646	CLIP-seq
MIRT1077484	hsa-miR-3675-5p	CLIP-seq
MIRT1077485	hsa-miR-3714	CLIP-seq
MIRT1077486	hsa-miR-3977	CLIP-seq
MIRT1077487	hsa-miR-424	CLIP-seq
MIRT1077488	hsa-miR-4282	CLIP-seq
MIRT1077489	hsa-miR-4283	CLIP-seq
MIRT1077490	hsa-miR-4291	CLIP-seq
MIRT1077491	hsa-miR-4307	CLIP-seq
MIRT1077492	hsa-miR-4422	CLIP-seq
MIRT1077493	hsa-miR-4477a	CLIP-seq
MIRT1077494	hsa-miR-4480	CLIP-seq
MIRT1077495	hsa-miR-4489	CLIP-seq
MIRT1077496	hsa-miR-4511	CLIP-seq
MIRT1077497	hsa-miR-4534	CLIP-seq
MIRT1077498	hsa-miR-4659a-3p	CLIP-seq
MIRT1077499	hsa-miR-4659b-3p	CLIP-seq
MIRT1077500	hsa-miR-4662a-5p	CLIP-seq
MIRT1077501	hsa-miR-4713-5p	CLIP-seq
MIRT1077502	hsa-miR-4768-3p	CLIP-seq
MIRT1077503	hsa-miR-4768-5p	CLIP-seq
MIRT1077504	hsa-miR-4771	CLIP-seq
MIRT1077505	hsa-miR-497	CLIP-seq
MIRT1077506	hsa-miR-499a-5p	CLIP-seq
MIRT1077507	hsa-miR-513a-3p	CLIP-seq
MIRT1077508	hsa-miR-532-3p	CLIP-seq
MIRT1077509	hsa-miR-543	CLIP-seq
MIRT1077510	hsa-miR-548an	CLIP-seq
MIRT1077511	hsa-miR-548n	CLIP-seq
MIRT1077512	hsa-miR-548t	CLIP-seq
MIRT1077513	hsa-miR-617	CLIP-seq
MIRT1077514	hsa-miR-626	CLIP-seq
MIRT1077515	hsa-miR-665	CLIP-seq
MIRT1077516	hsa-miR-761	CLIP-seq
MIRT1077517	hsa-miR-922	CLIP-seq
MIRT2019248	hsa-miR-1248	CLIP-seq
MIRT2019249	hsa-miR-302a	CLIP-seq
MIRT2019250	hsa-miR-302b	CLIP-seq
MIRT2019251	hsa-miR-302c	CLIP-seq
MIRT2019252	hsa-miR-302d	CLIP-seq
MIRT2019253	hsa-miR-302e	CLIP-seq
MIRT2019254	hsa-miR-372	CLIP-seq
MIRT2019255	hsa-miR-373	CLIP-seq
MIRT1077488	hsa-miR-4282	CLIP-seq
MIRT2019256	hsa-miR-4297	CLIP-seq
MIRT1077498	hsa-miR-4659a-3p	CLIP-seq
MIRT1077499	hsa-miR-4659b-3p	CLIP-seq
MIRT2019257	hsa-miR-4727-5p	CLIP-seq
MIRT2019258	hsa-miR-4753-3p	CLIP-seq
MIRT2019259	hsa-miR-4778-3p	CLIP-seq
MIRT2019260	hsa-miR-519a	CLIP-seq
MIRT2019261	hsa-miR-519b-3p	CLIP-seq
MIRT2019262	hsa-miR-519c-3p	CLIP-seq
MIRT2019263	hsa-miR-520a-3p	CLIP-seq
MIRT2019264	hsa-miR-520b	CLIP-seq
MIRT2019265	hsa-miR-520c-3p	CLIP-seq
MIRT2019266	hsa-miR-520d-3p	CLIP-seq
MIRT2019267	hsa-miR-520e	CLIP-seq
MIRT2019268	hsa-miR-544	CLIP-seq
MIRT2251108	hsa-miR-10a	CLIP-seq
MIRT2251109	hsa-miR-10b	CLIP-seq
MIRT2251110	hsa-miR-1205	CLIP-seq
MIRT2251111	hsa-miR-1238	CLIP-seq
MIRT2251112	hsa-miR-125a-3p	CLIP-seq
MIRT2251113	hsa-miR-137	CLIP-seq
MIRT2251114	hsa-miR-147	CLIP-seq
MIRT2251115	hsa-miR-1910	CLIP-seq
MIRT2251116	hsa-miR-219-2-3p	CLIP-seq
MIRT2251117	hsa-miR-2278	CLIP-seq
MIRT2251118	hsa-miR-3120-3p	CLIP-seq
MIRT2251119	hsa-miR-323-3p	CLIP-seq
MIRT1077481	hsa-miR-3607-5p	CLIP-seq
MIRT2251120	hsa-miR-3611	CLIP-seq
MIRT1077483	hsa-miR-3646	CLIP-seq
MIRT2251121	hsa-miR-3662	CLIP-seq
MIRT2251122	hsa-miR-3665	CLIP-seq
MIRT2251123	hsa-miR-409-3p	CLIP-seq
MIRT2251124	hsa-miR-4264	CLIP-seq
MIRT2251125	hsa-miR-4426	CLIP-seq
MIRT2251126	hsa-miR-4432	CLIP-seq
MIRT2251127	hsa-miR-4463	CLIP-seq
MIRT2251128	hsa-miR-4468	CLIP-seq
MIRT1077493	hsa-miR-4477a	CLIP-seq
MIRT2251129	hsa-miR-4504	CLIP-seq
MIRT2251130	hsa-miR-4528	CLIP-seq
MIRT2251131	hsa-miR-455-3p	CLIP-seq
MIRT2251132	hsa-miR-4647	CLIP-seq
MIRT2251133	hsa-miR-4662b	CLIP-seq
MIRT2251134	hsa-miR-4698	CLIP-seq
MIRT1077504	hsa-miR-4771	CLIP-seq
MIRT2251135	hsa-miR-4797-5p	CLIP-seq
MIRT2251136	hsa-miR-499-5p	CLIP-seq
MIRT1077506	hsa-miR-499a-5p	CLIP-seq
MIRT2251137	hsa-miR-517a	CLIP-seq
MIRT2251138	hsa-miR-517b	CLIP-seq
MIRT2251139	hsa-miR-517c	CLIP-seq
MIRT2251140	hsa-miR-548a-3p	CLIP-seq
MIRT2251141	hsa-miR-548e	CLIP-seq
MIRT2251142	hsa-miR-548f	CLIP-seq
MIRT2251143	hsa-miR-548g	CLIP-seq
MIRT2251144	hsa-miR-548p	CLIP-seq
MIRT2251145	hsa-miR-570	CLIP-seq
MIRT2251146	hsa-miR-582-5p	CLIP-seq
MIRT1077514	hsa-miR-626	CLIP-seq
MIRT2251147	hsa-miR-657	CLIP-seq
MIRT2251148	hsa-miR-660	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
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:0007517	Process	Muscle organ development	IEA
GO:0008307	Function	Structural constituent of muscle	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:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030018	Component	Z disc	IEA
GO:0030314	Component	Junctional membrane complex	IBA
GO:0030314	Component	Junctional membrane complex	IEA
GO:0030314	Component	Junctional membrane complex	NAS	10891348
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0060402	Process	Calcium ion transport into cytosol	IEA
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005

MIM	HGNC	e!Ensembl
605266	14201	ENSG00000104369

Q9HDC5

Protein name

Junctophilin-1 (JP-1) (Junctophilin type 1)

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

PDB

7RW4

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 → 80	MORN repeat	Repeat
PF02493	MORN	82 → 99	MORN repeat	Repeat
PF02493	MORN	106 → 128	MORN repeat	Repeat
PF02493	MORN	129 → 151	MORN repeat	Repeat
PF02493	MORN	281 → 303	MORN repeat	Repeat
PF02493	MORN	304 → 326	MORN repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in skeletal muscle. Very low levels in heart. {ECO:0000269|PubMed:10891348}.

Sequence

MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTY
QGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGV
ETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLRTSLASLRSEQSNGSVLHDAA
AAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLLGSMKLRKSESKSSISSKRSSVR
SDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTETYMGEWKNDKRNGFGVSERSN
GMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHTKTREKVDRAI
EGAQRAAAMARTKVEIANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQPG
PDYVKQRFQEGVDAKENPEEKVPEKPPTPKESPHFYRKGTTPPRSPEASPKHSHSPASSP
KPLKKQNPSSGARLNQDKRSVADEQVTAIVNKPLMSKAPTKEAGAVVPQSKYSGRHHIPN
PSNGELHSQYHGYYVKLNAPQHPPVDVEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVA
KESKAEPKAKKSELAIPKNPASNDSCPALEKEANSGPNSIMIVLVMLLNIGLAILFVHFL
T

Sequence length

661

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital myopathy	Likely pathogenic	rs2536700554, rs1808301220, rs2536591325	RCV004585041 RCV004585042 RCV004585043	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy 25	Likely pathogenic	rs2536700554, rs1808301220, rs2536591325	RCV004780561 RCV004780562 RCV004780563	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease axonal type 2K	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2K	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JPH1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31748560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	21199105, 25168384, 25337607, 25847151, 28495047, 29372391		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	BEFREE	25337607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33725402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31748560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31748560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29372391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	21402391		★★★★★ ★☆☆☆☆ Found in Text Mining only

JPH1 (junctophilin 1)