JPH2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
JPH2
Official Name
junctophilin 2 [Source:HGNC Symbol;Acc:HGNC:14202]
Ensembl ID
ENSG00000149596
Bio databases IDs NCBI: 57158 Ensembl: ENSG00000149596
Aliases junctophilin 2
Synonyms 1110002E14RIK, CMD2E, CMH17, JP-2, junctophilin 2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human JPH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phospholipid binding
  • Membrane Occupation and Recognition Nexus motif
  • MORN repeat
  • nucleic acid binding
  • enzyme
  • protein binding
  • sequence-specific DNA binding
  • phosphatidylinositol binding
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
  • binding protein
  • phosphatidylinositol-3,4,5-triphosphate binding
  • double-stranded DNA binding
  • phosphatidylinositol-4,5-bisphosphate binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
  • Ca2+
  • DNA endogenous promoter
  • DNA promoter
  • RNA polymerase II
  • SLC8A1
regulated by
disease
  • attention deficit hyperactivity disorder
  • hypertension
  • hypertrophic cardiomyopathy
  • cardiovascular disorder
  • human papilloma virus infection
  • dilated cardiomyopathy type 2E
  • familial hypertrophic cardiomyopathy type 17
  • familial hypertrophic cardiomyopathy
  • heart failure
  • dilated cardiomyopathy
role in cell
  • signaling in
  • development
  • organization
  • hypertrophy
  • organization in
  • abnormal morphology
  • elevation in
  • transport in
  • integrity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • junctional membrane complex
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • sarcoplasmic reticulum
  • microsome
  • I-A band junctions
  • Z line

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human JPH2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of transcription from RNA polymerase II promoter
  • calcium ion homeostasis
  • positive regulation of ryanodine-sensitive calcium-release channel activity
  • regulation of cardiac muscle tissue development
  • regulation of ryanodine-sensitive calcium-release channel activity
  • calcium ion transport into cytosol

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • nucleus
  • Z disc
  • sarcoplasmic reticulum
  • junctional sarcoplasmic reticulum membrane
  • plasma membrane
  • junctional membrane complex

Molecular Function

What the gene product does at the molecular level
  • phosphatidylinositol-3,4,5-trisphosphate binding
  • DNA binding
  • phosphatidylinositol-4-phosphate binding
  • phosphatidylinositol-4,5-bisphosphate binding
  • phosphatidylserine binding
  • protein binding
  • phosphatidylinositol-5-phosphate binding
  • phosphatidylinositol-3,5-bisphosphate binding
  • phosphatidic acid binding
  • phosphatidylinositol-3-phosphate binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.