Tag | Content |
---|---|
UniProt Accession | JPH2_HUMAN; Q9BR39; |
Entrez ID | 57158 |
GenBank Protein ID | NM_020433.4; NM_175913.3; |
GenBank Nucleotide ID | NP_065166.2; NP_787109.2; |
Protein Name | Junctophilin-2 (JP-2) (Junctophilin type 2) |
Gene Name | JPH2; JP2 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | 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 between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions. |
Sequence (Fasta) | MSGGRFDFDD GGAYCGGWEG GKAHGHGLCT GPKGQGEYSG SWNFGFEVAG VYTWPSGNTF 60 EGYWSQGKRH GLGIETKGRW LYKGEWTHGF KGRYGIRQSS SSGAKYEGTW NNGLQDGYGT 120 ETYADGGTYQ GQFTNGMRHG YGVRQSVPYG MAVVVRSPLR TSLSSLRSEH SNGTVAPDSP 180 ASPASDGPAL PSPAIPRGGF ALSLLANAEA AARAPKGGGL FQRGALLGKL RRAESRTSVG 240 SQRSRVSFLK SDLSSGASDA ASTASLGEAA EGADEAAPFE ADIDATTTET YMGEWKNDKR 300 SGFGVSERSS GLRYEGEWLD NLRHGYGCTT LPDGHREEGK YRHNVLVKDT KRRMLQLKSN 360 KVRQKVEHSV EGAQRAAAIA RQKAEIAASR TSHAKAKAEA AEQAALAANQ ESNIARTLAR 420 ELAPDFYQPG PEYQKRRLLQ EILENSESLL EPPDRGAGAA GLPQPPRESP QLHERETPRP 480 EGGSPSPAGT PPQPKRPRPG VSKDGLLSPG AWNGEPSGEG SRSVTPSEGA GRRSPARPAT 540 ERMAIEALQA PPAPSREPEV ALYQGYHSYA VRTTPPEPPP FEDQPEPEVS GSESAPSSPA 600 TAPLQAPTLR GPEPARETPA KLEPKPIIPK AEPRAKARKT EARGLTKAGA KKKARKEAAL 660 AAEAEVEVEE VPNTILICMV ILLNIGLAIL FVHLLT 697 |
|
Database | Annotation |
---|---|
CTD (Curated) (count: 1) | OMIM:613873 ; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 |
GWASdb (count: 14) (view all) | rs6093935; Type 2 diabetes; type 2 diabetes mellitus
rs1075174; Multiple complex diseases; Null rs6031407; Suicidal ideation; major depressive disorder rs878559; Multiple complex diseases; Null rs4239696; Multiple complex diseases; Null rs2017246; Alcohol dependence; alcohol dependence |
PTM | Modification Sites |
---|---|
Phosphorylation (count: 22) (view all) | 141 TNGMRHGYGVRQSVP dbPAF
157 GMAVVVRSPLRTSLS dbPAF 161 VVRSPLRTSLSSLRS dbPAF 162 VRSPLRTSLSSLRSE dbPAF 164 SPLRTSLSSLRSEHS dbPAF 165 PLRTSLSSLRSEHSN dbPAF |
Acetylation (count: 3) | 639 EPRAKARKTEARGLT PLMD
647 TEARGLTKAGAKKKA PLMD 651 GLTKAGAKKKARKEA PLMD |