JPH3

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Junctophilin 3
Identifiers
Symbols JPH3 ; CAGL237; HDL2; JP-3; JP3; TNRC22
External IDs OMIM605268 MGI1891497 HomoloGene10762 GeneCards: JPH3 Gene
RNA expression pattern
PBB GE JPH3 220188 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 57338 57340
Ensembl ENSG00000154118 ENSMUSG00000025318
UniProt Q8WXH2 Q9ET77
RefSeq (mRNA) NM_001271604 NM_020605
RefSeq (protein) NP_001258533 NP_065630
Location (UCSC) Chr 16:
87.64 – 87.73 Mb
Chr 8:
121.73 – 121.79 Mb
PubMed search [1] [2]

Junctophilin-3 is a protein that in humans is encoded by the JPH3 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K (Aug 2000). "Junctophilins: a novel family of junctional membrane complex proteins". Mol Cell 6 (1): 11–22. doi:10.1016/S1097-2765(05)00005-5. PMID 10949023. 
  2. ^ Nishi M, Mizushima A, Nakagawara K, Takeshima H (Sep 2000). "Characterization of human junctophilin subtype genes". Biochem Biophys Res Commun 273 (3): 920–7. doi:10.1006/bbrc.2000.3011. PMID 10891348. 
  3. ^ a b "Entrez Gene: JPH3 junctophilin 3". 

External links[edit]

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