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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
hephaestinMIM:300167Ensembl:ENSG00000089472HGNC:HGNC:4866PA29241Xq12

Gene Categories:

DRUGGABLE GENOME

GO terms in HEPH


Term TypeEvidence TypeGO Term IDGO Des.
MFIMPGO:0004322ferroxidase activity
MFIMPGO:0005507copper ion binding
MFIMPGO:0008198ferrous iron binding
MFIBAGO:0016722oxidoreductase activity, oxidizing metal ions
BPIEAGO:0006825copper ion transport
BPIMPGO:0006826iron ion transport
BPIEAGO:0006879cellular iron ion homeostasis
BPIEAGO:0055114oxidation-reduction process
CCIBAGO:0005615extracellular space
CCIDAGO:0005622intracellular
CCTASGO:0005886plasma membrane
CCIEAGO:0016021integral component of membrane
CCIDAGO:0016323basolateral plasma membrane
CCIEAGO:0048471perinuclear region of cytoplasm

Gene expression in normal tissue: HEPH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in HEPH


DatabasePathway IDPathway Des.
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-425366Transport of bile salts and organic acids, metal ions and amine compounds
reactomeR-HSA-425407SLC-mediated transmembrane transport
reactomeR-HSA-425410Metal ion SLC transporters
reactomeR-HSA-917937Iron uptake and transport
kegghsa00860Porphyrin and chlorophyll metabolism - Homo sapiens (human)
kegghsa04978Mineral absorption - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD289Parthenolide3
iGMDRD434BMS-5369246
iGMDRD52Rotenone3
iGMDRD871BRD63683
iGMDRD872BRD71373
iGMDRD506Fedratinib3
iGMDRD888Compound 443
iGMDRD64Parbendazole3
iGMDRD322FK 8661
iGMDRD126Tipifarnib3
iGMDRD330BRD41326
iGMDRD599Salermide6
iGMDRD144NSC953973
iGMDRD523Cyanoquinoline, 111
iGMDRD494Neopeltolide1
iGMDRD85Ursolic acid3
iGMDRD499PDMP1
iGMDRD61Kinetin riboside3
iGMDRD193Fqi13
iGMDRD466Chaetocin1
iGMDRD280CYTOCHALASIN B1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HEPH

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