JPH3

junctophilin 3

Summary

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 component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]

Known Variants143 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104040154716:87,636,844C/T—uncertain significance
rs215081713916:87,636,856G/A—uncertain significance
rs77792942616:87,636,872C/A—likely benign
rs76250793616:87,636,900C/G—uncertain significance
rs76800613816:87,636,906G/A—uncertain significance
rs95124551316:87,636,969A/G—uncertain significance
rs14267498016:87,637,019C/T—likely benign
rs20071557516:87,637,061C/T—likely benign
rs250748131816:87,637,063G/A—uncertain significance
rs203034639116:87,637,081C/T—uncertain significance
rs75196945616:87,637,131G/A—uncertain significance
rs250748345116:87,637,769C/T—likely benign
rs159725702416:87,677,877C/A—likely benign
rs7969027616:87,677,886C/T—benign
rs14964721516:87,677,887G/A—likely benign
rs37484940916:87,677,907C/T—likely benign
rs11148029616:87,677,908G/T—uncertain significance
rs122730513616:87,677,915G/A—uncertain significance
rs14632123516:87,677,941G/A—uncertain significance
rs19992331016:87,677,983C/T—uncertain significance
rs3522477316:87,677,988C/T—benign
rs15104428416:87,678,005C/T—uncertain significance
rs3530552016:87,678,006G/A—benign
rs74994768816:87,678,012G/A—likely benign
rs14994808916:87,678,018C/T—benign
rs75885659616:87,678,021C/G—uncertain significance
rs37114095816:87,678,029C/T—uncertain significance
rs56962384516:87,678,032C/T—uncertain significance
rs14212083916:87,678,038C/A—conflicting classifications of pathogenicity
rs37040830616:87,678,051C/T—likely benign
rs37523012916:87,678,052G/A—uncertain significance
rs75358622416:87,678,059G/A—uncertain significance
rs14597305716:87,678,060C/T—likely benign
rs993406716:87,678,076G/A—benign
rs14343286816:87,678,093C/T—benign
rs37341663816:87,678,106A/G—uncertain significance
rs14429651216:87,678,107G/C—conflicting classifications of pathogenicity
rs19978925116:87,678,135G/A—likely benign
rs75527990316:87,678,158G/A—uncertain significance
rs375172516:87,678,165G/A—benign
rs3444255916:87,678,219C/T—benign
rs148967657316:87,678,224C/T—uncertain significance
rs14870953616:87,678,237C/T—benign
rs75575086216:87,678,238G/A—uncertain significance
rs120988162316:87,678,242G/C—uncertain significance
rs14227399916:87,678,248C/T—uncertain significance
rs993422216:87,678,249A/G—benign
rs75021516216:87,678,277C/G—uncertain significance
rs14067678516:87,678,294C/T—benign
rs14440395516:87,678,302C/T—likely benign
rs126770678816:87,678,307A/G—uncertain significance
rs14783085216:87,678,321C/T—likely benign
rs36786553716:87,678,322G/T—uncertain significance
rs6173792616:87,678,324T/C—benign
rs11244944016:87,678,336C/T—likely benign
rs14495018316:87,678,351C/T—likely benign
rs14462808216:87,678,378C/T—likely benign
rs14227447516:87,678,384C/A—likely benign
rs3530435216:87,678,402C/T—benign
rs36899263316:87,678,414C/T—likely benign
rs14460141016:87,678,420C/T—benign
rs75941679616:87,678,421G/A—uncertain significance
rs203208690916:87,678,431G/A—uncertain significance
rs14813142116:87,678,436C/T—uncertain significance
rs37238676716:87,678,440G/A—uncertain significance
rs805144816:87,678,441T/C—benign
rs78116334316:87,678,467C/T—uncertain significance
rs3420007016:87,678,471C/T—benign
rs142788636716:87,678,499C/G—uncertain significance
rs76698441616:87,678,510C/T—likely benign
rs14746872516:87,678,511G/A—uncertain significance
rs805149016:87,678,513C/T—benign
rs14455025016:87,678,514G/A—likely benign
rs78128007816:87,678,523C/T—uncertain significance
rs20049455816:87,678,559C/T—uncertain significance
rs15095571516:87,678,574C/T—uncertain significance
rs37520171216:87,678,575G/A—uncertain significance
rs3497514716:87,678,576C/Tsynonymous variant—
rs77883612016:87,678,577G/A—uncertain significance
rs20206681316:87,678,579C/T—likely benign
rs14788403416:87,678,580G/A—likely benign
rs20060811716:87,678,589G/A—likely benign
rs101022766116:87,678,605C/G—uncertain significance
rs11156886416:87,678,609C/T—benign
rs37654180416:87,678,633G/A—likely benign
rs56059829716:87,688,967T/C——
rs250763957816:87,717,746A/G—uncertain significance
rs77543161416:87,717,762G/A—uncertain significance
rs52861533916:87,717,864G/A—uncertain significance
rs75528327816:87,723,271G/A—likely benign
rs14781509616:87,723,292C/T—benign
rs143533410616:87,723,341G/A—uncertain significance
rs250765111116:87,723,347T/C—uncertain significance
rs14314076316:87,723,349C/T—benign
rs7866194316:87,723,364T/C—likely benign
rs1785366016:87,723,380C/T—uncertain significance
rs57035422016:87,723,436C/T—likely benign
rs77479281816:87,723,439G/A—likely benign
rs101026027016:87,723,444C/A—uncertain significance
rs55597577816:87,723,448C/G—likely benign

Showing 100 of 143 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.