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GeneQ18042938· pop 6· linked from 5 articles

JPH2

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Also 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.

Gene data

JPH2

Name: junctophilin 2
Type: protein-coding
Position: 44,106,590–44,189,032 (−)
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

negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by calcium ion signaling regulation of cardiac muscle contraction by calcium ion signaling negative regulation of DNA-templated transcription regulation of cardiac muscle tissue development

Molecular function

core promoter sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific phosphatidylserine binding protein binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding phosphatidylinositol-5-phosphate binding phosphatidylinositol-3-phosphate binding

Cellular component

nucleus nucleus endoplasmic reticulum membrane endoplasmic reticulum membrane plasma membrane plasma membrane junctional sarcoplasmic reticulum membrane junctional sarcoplasmic reticulum membrane

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

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

exact match: identifiers.org/ncbigene/57158
HomoloGene ID: 10714
genomic end: 44187188
genomic start: 44106590
cytogenetic location: 20q13.12

Sources (4)

via Wikidata · CC0

~2 min read

Article

4 sections

Contents

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 ==

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Categories

Genes on human chromosome 20