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].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namehephaestin OMIM IDMIM:300167 Ensembl IDEnsembl:ENSG00000089472 HGNC IDHGNC:HGNC:4866 PHARMGKB IDPA29241 Map LocationXq12 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in HEPH
Loading, please wait...
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 |
Gene expression in normal tissue: HEPH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HEPH
Loading, please wait...
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HEPH
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.