Homo sapiens junctophilin 3 (JPH3), RefSeqGene on chromosome 16

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Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. [Mov Disord. 2023]
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Steel D, Vezyroglou A, Barwick K, Smith M, Vogt J, Gibbon FM, Cross JH, Kurian MA. Mov Disord. 2023 Jan; 38(1):155-157. Epub 2022 Oct 23.
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. [Life Sci Alliance. 2022]
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, et al. Life Sci Alliance. 2022 Aug 1; 5(12). Epub 2022 Aug 1.
Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence. [J Gen Physiol. 2022]
Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
Perni S, Beam K. J Gen Physiol. 2022 Sep 5; 154(9). Epub 2022 Jan 28.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the JPH3 gene.

Protein
Protein sequence from Nucleotide coding region
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RNA
RNA sequence records that are annotated on the current genomic nucleotide sequences. The RNA records represent aligned or predicted transcripts of the current records.
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Nucleotide