JPH3
Sign in to saveAlso known as CAGL237, HDL2, JP-3, JP3, TNRC22, junctophilin 3
thumb|325x325px|Junctophilin-3Junctophilin-3 (JPH3) is a protein residing in humans that is encoded by the JPH3 gene. The gene is approximately 97 kilobases long and is located at chromosomal position 16q24.2. Junctophilin proteins are associated with the formation of junctional membrane complexes, which link the plasma membrane with the endoplasmic reticulum in excitable cells. JPH3 is localized to the brain and is associated with motor coordination and memory neurons.
In the Vinony graph
Within Vinony's link graph, JPH3 is referenced by 8 other articles, and connects out to PubMed, base pair and human chromosome 16.
It is catalogued under the topic Genes on human chromosome 16.
Its subject is documented across 5 Wikipedia language editions.
Gene data
JPH3- Name
- junctophilin 3
- Type
- protein-coding
- Aliases
- CAGL237, HDL2, JP-3, JP3, TNRC22
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].
via MyGene.info
Gene · Ensembl
junctophilin 3
- Symbol
- JPH3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:87,601,835-87,698,375
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 10762
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/57338
- genomic end
- 87731762
- genomic start
- 87635441
- chromosome
- human chromosome 16
- cytogenetic location
- 16q24.2
- expressed in
- prefrontal cortex
Sources (4)
via Wikidata · CC0
~2 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
thumb|325x325px|Junctophilin-3Junctophilin-3 (JPH3) is a protein residing in humans that is encoded by the JPH3 gene. The gene is approximately 97 kilobases long and is located at chromosomal position 16q24.2. Junctophilin proteins are associated with the formation of junctional membrane complexes, which link the plasma membrane with the endoplasmic reticulum in excitable cells. JPH3 is localized to the brain and is associated with motor coordination and memory neurons.
The protein contains 748 residues and is composed of a C-terminal hydrophobic segment that spans the endoplasmic/sarcoplasmic reticulum membrane and a cytoplasmic domain that displays specific affinity for the plasma membrane, as well as several membrane occupation and recognition nexus repeats involved in plasma membrane binding through interactions with phospholipids.
Excerpted from Wikipedia’s “JPH3” article, available under the CC BY-SA 4.0 licence.