JPH2
Sign in to saveAlso known as CMH17, JP-2, JP2, junctophilin 2, CMD2E
Junctophilin 2, also known as JPH2, is a protein which in humans is encoded by the JPH2 gene. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.
In the Vinony graph
Vinony's link graph records 5 inbound references to JPH2, and connects out to PubMed, human chromosome 20 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 20.
Vinony links it to 6 Wikipedia language editions.
Gene data
JPH2- Name
- junctophilin 2
- Type
- protein-coding
- Position
- 44,097,006–44,189,032 (−)
- Aliases
- CMD2E, CMH17, JP-2, JP2
- Ensembl
- ENSG00000149596
- RefSeq RNA
- NM_020433.5, NM_175913.4, XM_006723833.5, XM_054323741.1
- RefSeq protein
- NP_065166.2, NP_787109.2, XP_006723896.1, XP_054179716.1
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. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
junctophilin 2
- Symbol
- JPH2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:44,097,006-44,189,032
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/57158
- HomoloGene ID
- 10714
- genomic end
- 44187188
- genomic start
- 44106590
- chromosome
- human chromosome 20
- cytogenetic location
- 20q13.12
- genetic association
- hypertrophic cardiomyopathy
- expressed in
- popliteal artery
via Wikidata · CC0
~2 min read
Encyclopedic overview
4 sectionsContents
- Function
- Role in Disease
- References
- Further reading
Junctophilin 2, also known as JPH2, is a protein which in humans is encoded by the JPH2 gene. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.
== Function ==
Excerpted from Wikipedia’s “JPH2” article, available under the CC BY-SA 4.0 licence.