Q9BR39

PTMD Annotation Information


※ Protein Information

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 DescriptionJunctophilins 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

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Tyrosine PhosphorylationHeart failureNY14122389502
[Reference]: Instead, abnormal JMC and increased SOCE via Orai1 were found, suggesting that the hypertrophy caused by Y141H progressed differently from S165F.?

※ Disease Cross-ref Annotation

DatabaseAnnotation
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 Sites

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