JPH3, junctophilin 3

JPH3, junctophilin 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 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]

• Gene Synonyms (CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin-3, junctophilin type 3, trinucleotide repeat containing 22,)
• NCBI Gene ID: 57338
• Species: Homo sapiens (Human)
• UNIPROT ID#>>F8W9A3
  UNIPROT ID#>>Q8WXH2
  UNIPROT ID#>>Q96HD8
  UNIPROT ID#>>B4DIC1
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

junctophilin 3 interacts with:

• keratin associated protein 10-8

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.