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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HEPH
hephaestin
Chromosome X · Xq12
NCBI Gene: 9843Ensembl: ENSG00000089472HGNC: HGNC:4866UniProt: A0A0C4DG76
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ferroxidase activitybasolateral plasma membraneprotein bindingintestinal iron absorptioninfantile epileptic encephalopathyclonal hematopoiesishypertensionBlackfan-Diamond anemia
✦AI Summary

HEPH (hephaestin) is a multicopper ferroxidase essential for systemic iron homeostasis, functioning as a plasma membrane-bound enzyme that oxidizes ferrous iron (Fe2+) to ferric iron (Fe3+) 1. HEPH works in conjunction with ferroportin to facilitate iron export from cells, particularly in the small intestine where it is critical for dietary iron absorption 1. The enzyme contains six copper atoms that serve as electron acceptors during the four-electron reduction of dioxygen coupled to iron oxidation 1. HEPH plays partially overlapping roles with ceruloplasmin in brain iron homeostasis, facilitating iron export from glial cells to make iron available to neurons 2. Deficiency in both HEPH and ceruloplasmin leads to iron accumulation in glial cells, neuronal iron deficiency, and neurodegeneration with ataxia and tremor 2. In the kidney, HEPH protects against iron-induced toxicity, as knockout mice develop renal iron deposition, proteinuria, and compromised structural integrity 3. HEPH expression is regulated by zinc through a PI3K-CDX2 pathway in intestinal cells 4, and its dysregulation has been implicated in colon cancer chemotherapy resistance 5 and glioblastoma 6.

Sources cited
1
HEPH is a multicopper ferroxidase with six copper atoms essential for iron homeostasis and dietary iron absorption
PMID: 35167013
2
HEPH and ceruloplasmin have overlapping roles in brain iron homeostasis and their deficiency causes neurodegeneration
PMID: 26303407
3
HEPH protects kidney against iron-induced toxicity and its knockout causes renal iron deposition
PMID: 27991585
4
HEPH expression is regulated by zinc through PI3K-CDX2 pathway in intestinal cells
PMID: 35963044
5
HEPH dysregulation is implicated in colon cancer chemotherapy resistance
PMID: 33621425
6
HEPH expression is regulated by STAG2 in glioblastoma
PMID: 38705393
Disease Associationsⓘ20
infantile epileptic encephalopathyOpen Targets
0.37Weak
clonal hematopoiesisOpen Targets
0.24Weak
hypertensionOpen Targets
0.22Weak
Blackfan-Diamond anemiaOpen Targets
0.12Weak
inosine triphosphatase deficiencyOpen Targets
0.10Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.10Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.10Suggestive
autosomal dominant sideroblastic anemiaOpen Targets
0.09Suggestive
Constitutional sideroblastic anemiaOpen Targets
0.09Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.09Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.09Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.09Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.09Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.09Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.09Suggestive
delta-beta-thalassemiaOpen Targets
0.09Suggestive
myelodysplastic syndrome associated with isolated del(5q)Open Targets
0.09Suggestive
hemoglobin D diseaseOpen Targets
0.09Suggestive
Heinz body anemiaOpen Targets
0.09Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CPProtein interaction94%FECHProtein interaction94%FXNProtein interaction94%HMOX1Protein interaction94%HMOX2Protein interaction94%CYBRD1Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Ovary
36%
Brain
20%
Lung
19%
Liver
4%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
HEPHCPFECHFXNHMOX1HMOX2CYBRD1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q1HE23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.70–1.04]
RankingsWhere HEPH stands among ~20K protein-coding genes
  • #10,633of 20,598
    Most Researched37
  • #10,409of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedHEPH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The biology of mammalian multi-copper ferroxidases.
PMID: 35167013
Biometals · 2023
1.00
2
Cp/Heph mutant mice have iron-induced neurodegeneration diminished by deferiprone.
PMID: 26303407
J Neurochem · 2015
0.90
3
Cancer-associated fibroblast-derived exosomal microRNA-24-3p enhances colon cancer cell resistance to MTX by down-regulating CDX2/HEPH axis.
PMID: 33621425
J Cell Mol Med · 2021
0.80
4
Ion channelopathies and migraine pathogenesis.
PMID: 28389699
Mol Genet Genomics · 2017
0.70
5
Hephaestin and ceruloplasmin facilitate iron metabolism in the mouse kidney.
PMID: 27991585
Sci Rep · 2016
0.60