HEPH
Summary: This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| hephaestin | MIM:300167 | Ensembl:ENSG00000089472 | HGNC:HGNC:4866 | PA29241 | Xq12 |
Gene Categories:
DRUGGABLE GENOMEGO terms in HEPH
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IMP | GO:0004322 | ferroxidase activity |
| MF | IMP | GO:0005507 | copper ion binding |
| MF | IMP | GO:0008198 | ferrous iron binding |
| MF | IBA | GO:0016722 | oxidoreductase activity, oxidizing metal ions |
| BP | IEA | GO:0006825 | copper ion transport |
| BP | IMP | GO:0006826 | iron ion transport |
| BP | IEA | GO:0006879 | cellular iron ion homeostasis |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005622 | intracellular |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016323 | basolateral plasma membrane |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
Gene expression in normal tissue: HEPH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HEPH
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425366 | Transport of bile salts and organic acids, metal ions and amine compounds |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-425410 | Metal ion SLC transporters |
| reactome | R-HSA-917937 | Iron uptake and transport |
| kegg | hsa00860 | Porphyrin and chlorophyll metabolism - Homo sapiens (human) |
| kegg | hsa04978 | Mineral absorption - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD434 | BMS-536924 | 6 |
| iGMDRD52 | Rotenone | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD322 | FK 866 | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD330 | BRD4132 | 6 |
| iGMDRD599 | Salermide | 6 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD523 | Cyanoquinoline, 11 | 1 |
| iGMDRD494 | Neopeltolide | 1 |
| iGMDRD85 | Ursolic acid | 3 |
| iGMDRD499 | PDMP | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD466 | Chaetocin | 1 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HEPH
CLASSFICATION
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