JPH2
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namejunctophilin 2 OMIM IDMIM:605267 Ensembl IDEnsembl:ENSG00000149596 HGNC IDHGNC:HGNC:14202 PHARMGKB IDPA29999 Map Location20q13.12 | |||||
GO terms in JPH2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0051209 | release of sequestered calcium ion into cytosol |
| BP | IEA | GO:0055024 | regulation of cardiac muscle tissue development |
| BP | IDA | GO:0055074 | calcium ion homeostasis |
| BP | TAS | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
| BP | IDA | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity |
| BP | TAS | GO:0060402 | calcium ion transport into cytosol |
Gene expression in normal tissue: JPH2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in JPH2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD536 | PLX-4720 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in JPH2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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