Jph2 Gene Summary [Mouse]
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and core promoter sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of cardiac muscle tissue development. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Located in several cellular components, including Z disc; nucleus; and sarcoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17. Orthologous to human JPH2 (junctophilin 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Jph2 |
| Official Name | junctophilin 2 [Source:MGI Symbol;Acc:MGI:1891496] |
| Ensembl ID | ENSMUSG00000017817 |
| Bio databases IDs | |
| Aliases | junctophilin 2 |
| Synonyms | 1110002E14RIK, CMD2E, CMH17, JP-2, junctophilin 2 |
| Species | Mouse, Mus musculus |
| Orthologies |
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 mouse 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
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 mouse 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