• Gene id: 84502

Gene Summary

• Gene Symbol: JPH4   Gene   UCSC   Ensembl
• Aliases: JP4, JPHL1
• Gene name: junctophilin 4
• Alternate names: junctophilin-4, JP-4, junctophilin like 1, junctophilin-like 1 protein,
• Gene location: 14q11.2 (19525336: 19523023)     Exons: 2     NC_000022.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q96JJ6  
  • Name: Junctophilin 4 (JP 4) (Junctophilin like 1 protein)
  • Length: 628  
  • Mass: 65861
• Sequence:

  MSPGGKFDFDDGGCYVGGWEAGRAHGYGVCTGPGAQGEYSGCWAHGFESLGVFTGPGGHSYQGHWQQGKREGLGV
  ERKSRWTYRGEWLGGLKGRSGVWESVSGLRYAGLWKDGFQDGYGTETYSDGGTYQGQWQAGKRHGYGVRQSVPYH
  QAALLRSPRRTSLDSGHSDPPTPPPPLPLPGDEGGSPASGSRGGFVLAGPGDADGASSRKRTPAAGGFFRRSLLL
  SGLRAGGRRSSLGSKRGSLRSEVSSEVGSTGPPGSEASGPPAAAPPALIEGSATEVYAGEWRADRRSGFGVSQRS
  NGLRYEGEWLGNRRHGYGRTTRPDGSREEGKYKRNRLVHGGRVRSLLPLALRRGKVKEKVDRAVEGARRAVSAAR
  QRQEIAAARAADALLKAVAASSVAEKAVEAARMAKLIAQDLQPMLEAPGRRPRQDSEGSDTEPLDEDSPGVYENG
  LTPSEGSPELPSSPASSRQPWRPPACRSPLPPGGDQGPFSSPKAWPEEWGGAGAQAEELAGYEAEDEAGMQGPGP
  RDGSPLLGGCSDSSGSLREEEGEDEEPLPPLRAPAGTEPEPIAMLVLRGSSSRGPDAGCLTEELGEPAATERPAQ
  PGAANPLVVGAVALLDLSLAFLFSQLLT

• Structural information:
  • Interpro: IPR017191  IPR003409  
  • STRING: ENSP00000380307
• Other Databases: GeneCards:  JPH4  Malacards:  JPH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048167	regulation of synaptic plasticity	IBA	biological process
GO:0030314	junctional membrane complex	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001256	regulation of store-operated calcium entry	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0001817	regulation of cytokine production	IEA	biological process
GO:0014701	junctional sarcoplasmic reticulum membrane	TAS	cellular component
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	TAS	biological process
GO:0060402	calcium ion transport into cytosol	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq