JPH4 (junctophilin 4)

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Gene miRNA Gene ontology Other IDs Protein Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84502
• Gene name: Junctophilin 4
• Gene symbol: JPH4
• Synonyms (NCBI Gene): JP4, JPHL1
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded

miRNA Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052517	hsa-let-7a-5p	CLASH	23622248
MIRT1077605	hsa-miR-1237	CLIP-seq
MIRT1077606	hsa-miR-1248	CLIP-seq
MIRT1077607	hsa-miR-1273d	CLIP-seq
MIRT1077608	hsa-miR-1302	CLIP-seq
MIRT1077609	hsa-miR-181a	CLIP-seq
MIRT1077610	hsa-miR-181b	CLIP-seq
MIRT1077611	hsa-miR-181c	CLIP-seq
MIRT1077612	hsa-miR-181d	CLIP-seq
MIRT1077613	hsa-miR-1825	CLIP-seq
MIRT1077614	hsa-miR-2276	CLIP-seq
MIRT1077615	hsa-miR-3074-5p	CLIP-seq
MIRT1077616	hsa-miR-3122	CLIP-seq
MIRT1077617	hsa-miR-3135b	CLIP-seq
MIRT1077618	hsa-miR-3157-5p	CLIP-seq
MIRT1077619	hsa-miR-3184	CLIP-seq
MIRT1077620	hsa-miR-3199	CLIP-seq
MIRT1077621	hsa-miR-34b	CLIP-seq
MIRT1077622	hsa-miR-3652	CLIP-seq
MIRT1077623	hsa-miR-3913-5p	CLIP-seq
MIRT1077624	hsa-miR-423-5p	CLIP-seq
MIRT1077625	hsa-miR-4262	CLIP-seq
MIRT1077626	hsa-miR-4298	CLIP-seq
MIRT1077627	hsa-miR-4430	CLIP-seq
MIRT1077628	hsa-miR-4492	CLIP-seq
MIRT1077629	hsa-miR-4498	CLIP-seq
MIRT1077630	hsa-miR-4660	CLIP-seq
MIRT1077631	hsa-miR-4662a-3p	CLIP-seq
MIRT1077632	hsa-miR-4676-5p	CLIP-seq
MIRT1077633	hsa-miR-4691-3p	CLIP-seq
MIRT1077634	hsa-miR-4696	CLIP-seq
MIRT1077635	hsa-miR-4705	CLIP-seq
MIRT1077636	hsa-miR-4778-3p	CLIP-seq
MIRT1077637	hsa-miR-4779	CLIP-seq
MIRT1077638	hsa-miR-483-3p	CLIP-seq
MIRT1077639	hsa-miR-515-3p	CLIP-seq
MIRT1077640	hsa-miR-519e	CLIP-seq
MIRT1077641	hsa-miR-570	CLIP-seq
MIRT1077642	hsa-miR-575	CLIP-seq
MIRT1077643	hsa-miR-646	CLIP-seq
MIRT1077644	hsa-miR-660	CLIP-seq
MIRT1077645	hsa-miR-762	CLIP-seq
MIRT1077646	hsa-miR-765	CLIP-seq
MIRT1077615	hsa-miR-3074-5p	CLIP-seq
MIRT2019279	hsa-miR-516a-3p	CLIP-seq
MIRT2251157	hsa-miR-1197	CLIP-seq
MIRT2251158	hsa-miR-1321	CLIP-seq
MIRT2251159	hsa-miR-3117-3p	CLIP-seq
MIRT2251160	hsa-miR-4434	CLIP-seq
MIRT2251161	hsa-miR-4516	CLIP-seq
MIRT2251162	hsa-miR-4739	CLIP-seq
MIRT2251163	hsa-miR-4756-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007612	Process	Learning	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:0030314	Component	Junctional membrane complex	IBA
GO:0030314	Component	Junctional membrane complex	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IBA
GO:0048167	Process	Regulation of 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
GO:2001256	Process	Regulation of store-operated calcium entry	IEA

Other IDs

• MIM: 619863
• HGNC: 20156
• e!Ensembl: ENSG00000092051

Protein

• UniProt ID: Q96JJ6
• Protein name: Junctophilin-4 (JP-4) (Junctophilin-like 1 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	305 → 327	MORN repeat	Repeat
  PF02493	MORN	129 → 149	MORN repeat	Repeat
  PF02493	MORN	106 → 128	MORN repeat	Repeat
  PF02493	MORN	282 → 304	MORN repeat	Repeat
  PF02493	MORN	61 → 82	MORN repeat	Repeat
  PF02493	MORN	15 → 34	MORN repeat	Repeat
  PF02493	MORN	83 → 105	MORN repeat	Repeat
  PF02493	MORN	39 → 60	MORN repeat	Repeat

• Sequence:

  MSPGGKFDFDDGGCYVGGWEAGRAHGYGVCTGPGAQGEYSGCWAHGFESLGVFTGPGGHS
  YQGHWQQGKREGLGVERKSRWTYRGEWLGGLKGRSGVWESVSGLRYAGLWKDGFQDGYGT
  ETYSDGGTYQGQWQAGKRHGYGVRQSVPYHQAALLRSPRRTSLDSGHSDPPTPPPPLPLP
  GDEGGSPASGSRGGFVLAGPGDADGASSRKRTPAAGGFFRRSLLLSGLRAGGRRSSLGSK
  RGSLRSEVSSEVGSTGPPGSEASGPPAAAPPALIEGSATEVYAGEWRADRRSGFGVSQRS
  NGLRYEGEWLGNRRHGYGRTTRPDGSREEGKYKRNRLVHGGRVRSLLPLALRRGKVKEKV
  DRAVEGARRAVSAARQRQEIAAARAADALLKAVAASSVAEKAVEAARMAKLIAQDLQPML
  EAPGRRPRQDSEGSDTEPLDEDSPGVYENGLTPSEGSPELPSSPASSRQPWRPPACRSPL
  PPGGDQGPFSSPKAWPEEWGGAGAQAEELAGYEAEDEAGMQGPGPRDGSPLLGGCSDSSG
  SLREEEGEDEEPLPPLRAPAGTEPEPIAMLVLRGSSSRGPDAGCLTEELGEPAATERPAQ
  PGAANPLVVGAVALLDLSLAFLFSQLLT

• Sequence length: 628

Related Genes

No strongly related genes found yet for JPH4.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to JPH4.