Details for: JPH2
Associated with
Other Information
Genular Protein ID: 2771446847
Symbol: JPH2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
PubMed ID: 10891348
Title: Characterization of human junctophilin subtype genes.
PubMed ID: 10891348
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 20095964
Title: S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
PubMed ID: 20095964
DOI: 10.1042/bj20091225
PubMed ID: 24001019
Title: Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.
PubMed ID: 24001019
DOI: 10.1042/bj20130591
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 30409805
Title: E-C coupling structural protein junctophilin-2 encodes a stress-adaptive transcription regulator.
PubMed ID: 30409805
PubMed ID: 35044787
Title: Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.
PubMed ID: 35044787
PubMed ID: 17476457
Title: Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
PubMed ID: 17476457
PubMed ID: 17509612
Title: Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
PubMed ID: 17509612
PubMed ID: 23973696
Title: Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.
PubMed ID: 23973696
PubMed ID: 27471098
PubMed ID: 27532831
Title: Genetic misdiagnoses and the motential for mealth misparities.
PubMed ID: 27532831
PubMed ID: 28393127
Title: Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.
PubMed ID: 28393127
PubMed ID: 30235249
Title: Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
PubMed ID: 30235249
PubMed ID: 30384889
Title: Genetic basis of severe childhood-onset cardiomyopathies.
PubMed ID: 30384889
PubMed ID: 31227780
Title: Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
PubMed ID: 31227780
Sequence Information:
- Length: 696
- Mass: 74222
- Checksum: 80D62652CE48548B
- Sequence:
MSGGRFDFDD GGAYCGGWEG GKAHGHGLCT GPKGQGEYSG SWNFGFEVAG VYTWPSGNTF EGYWSQGKRH GLGIETKGRW LYKGEWTHGF KGRYGIRQSS SSGAKYEGTW NNGLQDGYGT ETYADGGTYQ GQFTNGMRHG YGVRQSVPYG MAVVVRSPLR TSLSSLRSEH SNGTVAPDSP ASPASDGPAL PSPAIPRGGF ALSLLANAEA AARAPKGGGL FQRGALLGKL RRAESRTSVG SQRSRVSFLK SDLSSGASDA ASTASLGEAA EGADEAAPFE ADIDATTTET YMGEWKNDKR SGFGVSERSS GLRYEGEWLD NLRHGYGCTT LPDGHREEGK YRHNVLVKDT KRRMLQLKSN KVRQKVEHSV EGAQRAAAIA RQKAEIAASR TSHAKAKAEA AEQAALAANQ ESNIARTLAR ELAPDFYQPG PEYQKRRLLQ EILENSESLL EPPDRGAGAA GLPQPPRESP QLHERETPRP EGGSPSPAGT PPQPKRPRPG VSKDGLLSPG AWNGEPSGEG SRSVTPSEGA GRRSPARPAT ERMAIEALQA PPAPSREPEV ALYQGYHSYA VRTTPPEPPP FEDQPEPEVS GSESAPSSPA TAPLQAPTLR GPEPARETPA KLEPKPIIPK AEPRAKARKT EARGLTKAGA KKKARKEAAL AAEAEVEVEE VPNTILICMV ILLNIGLAIL FVHLLT
Genular Protein ID: 2703469473
Symbol: Q86VZ3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 417
- Mass: 45112
- Checksum: CD967E60268BFEEB
- Sequence:
EADIDATTTE TYMGEWKNDK RSGFGVSERS SGLRYEGEWL DNLRHGYGCT TLPDGHREEG KYRHNVLVKD TKRRMLQLKS NKVRQKVEHS VEGAQRAAAI ARQKAEIAAS RTSHAKAKAE AAEQAALAAN QESNIARTLA RELAPDFYQP GPEYQKRRLL QEILENSESL LEPPDRGAGA AGLPQPPRES PQLHERETPR PEGGSPSPAG TPPQPKRPRP GVSKDGLLSP GAWNGEPSGE GSRSVTPSEG AGRRSPARPA TERMAIEALQ APPAPSREPE VALYQGYHSY AVRTTPPEPP PFEDQPEPEV SGSESAPSSP ATAPLQAPTL RGPEPARETP AKLEPKPIIP KAEPRAKARK TEARGLTKAG AKKKARKEAA LAAEAEVEVE EVPNTILICM VILLNIGLAI LFVHLLT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.