Property Summary

NCBI Gene PubMed Count 7
PubMed Score 8.74
PubTator Score 3.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Polycystic Ovary Syndrome 335
Disease Target Count P-value
ovarian cancer 8492 8.30684522048784E-6
osteosarcoma 7933 1.55422647321294E-5
glioblastoma 5572 4.21863083256332E-5
lung adenocarcinoma 2714 1.6264584033739E-4
medulloblastoma, large-cell 6234 0.00769033122592562
adult high grade glioma 2148 0.0087893494099707
non primary Sjogren syndrome sicca 840 0.0152401418184485
spina bifida 1064 0.0366642971409801
Disease Target Count Z-score Confidence
Malignant hyperthermia 25 3.677 1.8

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.080 0.000
glioblastoma -1.200 0.000
medulloblastoma, large-cell -1.100 0.008
adult high grade glioma -1.200 0.009
non primary Sjogren syndrome sicca 1.200 0.015
lung adenocarcinoma 1.400 0.000
spina bifida 1.274 0.037
ovarian cancer -1.200 0.000

Synonym

Accession Q96MG2
Symbols JP45
JP-45

Gene

  Ortholog (3)

Species Source
Mouse EggNOG Inparanoid
Rat EggNOG Inparanoid
Cow EggNOG Inparanoid

Gene RIF (3)

PMID Text
22927026 Data indicate that the presence of either one of these JP-45 variants decreased the sensitivity of the dihydropyridine receptor DHPR to activation.
20442750 Observational study of gene-disease association. (HuGE Navigator)
16423849 The results may be explained by a modulatory effect of JP-45 related to its reported in vitro interaction with the dihydropyridine receptor and the SR Ca(2+) binding protein calsequestrin (CSQ).

AA Sequence

MSMTTRAWEELDGGLGSCQALEDHSALAETQEDRASATPRLADSGSVPHDSQVAEGPSVDTRPKKMEKEP      1 - 70
AARGTPGTGKERLKAGASPRSVPARKKAQTAPPLQPPPPPPALSEELPWGDLSLNKCLVLASLVALLGSA     71 - 140
FQLCRDAVPGEAALQARVPEPWVPPSSAPREPSSPLPKFEAQAPPSAPPAPRAEAEVRPKIPGSREAAEN    141 - 210
DEEEPGEATGEAVREDRVTLADRGPKERPRREGKPRKEKPRKEERPKKERPRKEERPRAAREPREALPQR    211 - 280
WESREGGHRPWARDSRDAEPRKKQAWVSPRRPDEEQRPGSRQKLRAGKGRD                       281 - 331
//

Text Mined References (8)

PMID Year Title
22927026 2013 JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.
20442750 2010 Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study.
16423849 2006 A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12871958 2003 The novel skeletal muscle sarcoplasmic reticulum JP-45 protein. Molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.