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 |
|---|---|---|---|---|---|
| junctophilin 2 | MIM:605267 | Ensembl:ENSG00000149596 | HGNC:HGNC:14202 | PA29999 | 20q13.12 |
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 |
| CC | IBA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0014701 | junctional sarcoplasmic reticulum membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0016529 | sarcoplasmic reticulum |
| CC | IEA | GO:0030018 | Z disc |
| CC | IBA | GO:0030314 | junctional membrane complex |
| CC | IEA | GO:0030314 | junctional membrane complex |
| MF | IDA | GO:0001786 | phosphatidylserine binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding |
| MF | IDA | GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding |
| MF | IDA | GO:0010314 | phosphatidylinositol-5-phosphate binding |
| MF | IBA | GO:0015278 | calcium-release channel activity |
| MF | IDA | GO:0015278 | calcium-release channel activity |
| MF | IDA | GO:0032266 | phosphatidylinositol-3-phosphate binding |
| MF | IDA | GO:0070273 | phosphatidylinositol-4-phosphate binding |
| MF | IDA | GO:0070300 | phosphatidic acid binding |
| MF | IDA | GO:0080025 | phosphatidylinositol-3,5-bisphosphate binding |
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. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in JPH2
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