• Gene id: 57158

Gene Summary

• Gene Symbol: JPH2   Gene   UCSC   Ensembl
• Aliases: CMH17, JP-2, JP2
• Gene name: junctophilin 2
• Alternate names: junctophilin-2, junctophilin type 2,
• Gene location: 20q13.12 (44187945: 44106589)     Exons: 30     NC_000020.11
• 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: 605267

Protein Summary

• Protein general information: Q9BR39  
  • Name: Junctophilin 2 (JP 2) (Junctophilin type 2) [Cleaved into: Junctophilin 2 N terminal fragment (JP2NT)]
  • Length: 696  
  • Mass: 74222
  • Tissue specificity: Specifically expressed in skeletal muscle and heart. {ECO
• Sequence:

  MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIE
  TKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYG
  MAVVVRSPLRTSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGA
  LLGKLRRAESRTSVGSQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKR
  SGFGVSERSSGLRYEGEWLDNLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSNKVRQKVEHSVEGAQR
  AAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLARELAPDFYQPGPEYQKRRLLQEILENSESLL
  EPPDRGAGAAGLPQPPRESPQLHERETPRPEGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVT
  PSEGAGRRSPARPATERMAIEALQAPPAPSREPEVALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPA
  TAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKTEARGLTKAGAKKKARKEAALAAEAEVEVEEVPNTI
  LICMVILLNIGLAILFVHLLT

• Structural information:
  • Interpro: IPR017191  IPR003409  
  • STRING: ENSP00000362071
• Other Databases: GeneCards:  JPH2  Malacards:  JPH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0030314	junctional membrane complex	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0010314	phosphatidylinositol-5-phosphate binding	IDA	molecular function
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0055024	regulation of cardiac muscle tissue development	IEA	biological process
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	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:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060316	positive regulation of ryanodine-sensitive calcium-release channel activity	IDA	biological process
GO:0055074	calcium ion homeostasis	IDA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq