| Entrez gene ID | | 57338 |
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| Official gene symbol | | JPH3 |
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| Full name | | junctophilin 3 |
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| Aliases | | ,CAGL237,FLJ44707,HDL2,JP-3,JP3,TNRC22, |
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| Gene 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 expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. [provided by RefSeq] |
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| Location | | Chromosome: 16 Locus: 16q24.3 |
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| Gene position | | 87636499 - 87731762 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 95264 bp |
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| Gene sequence |
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| OMIM ID | | 605268 |
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