• Gene id: 57338

Gene Summary

• Gene Symbol: JPH3   Gene   UCSC   Ensembl
• Aliases: CAGL237, HDL2, JP-3, JP3, TNRC22
• Gene name: junctophilin 3
• Alternate names: junctophilin-3, junctophilin type 3, trinucleotide repeat containing 22,
• Gene location: 16q24.2 (87601834: 87698155)     Exons: 8     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 605268

Protein Summary

• Protein general information: Q8WXH2  
  • Name: Junctophilin 3 (JP 3) (Junctophilin type 3) (Trinucleotide repeat containing gene 22 protein)
  • Length: 748  
  • Mass: 81469
  • Tissue specificity: Specifically expressed in brain. {ECO
• Sequence:

  MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNTYQGTWAQGKRHGIGL
  ESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQGYGVRQSVPY
  GMAAVIRSPLRTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKL
  RKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
  GVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIREKVDRAVEAAERAAT
  IAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFSPSFQHRENGLEYQRPKRQTSCDDIEVLSTG
  TPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGD
  CARSSWGEEQAGGSRGVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
  LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQNKENFRPASSAEPAV
  QKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKSSTGSAPILVVMVILLNIGVAILFINFFI

• Structural information:
  • Interpro: IPR017191  IPR003409  
  • STRING: ENSP00000284262
• Other Databases: GeneCards:  JPH3  Malacards:  JPH3

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:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0007613	memory	IEA	biological process
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0035640	exploration behavior	IEA	biological process
GO:0040011	locomotion	IEA	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	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
GO:0016021	integral component of membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Huntington disease-like syndrome	KEGG:H01243
Core neuroacanthocytosis syndromes	KEGG:H00832
Huntington disease-like syndrome	KEGG:H01243
Core neuroacanthocytosis syndromes	KEGG:H00832
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray