HAMP Gene

Name hepcidin antimicrobial peptide
Description The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]
Summary
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Iron loading, inflammatory stimuli, and bone morphogenetic proteins (BMPs) stimulate hepcidin transcription, whereas increased erythropoietic activity (mediated in part by factors such as GDF15 and TWSG1) and hypoxic signals lead to its suppression. Inflammatory cytokines—notably interleukin-6 acting through the STAT3 pathway—are necessary and sufficient to induce hepcidin production during inflammation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "10"}]}, {"type": "t", "text": " Similarly, BMP6 and related ligands act through SMAD signaling to enhance hepcidin expression"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": ", whereas endoplasmic reticulum stress via CREBH can further up-regulate its transcription."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Dysregulation of hepcidin production underlies several pathologic states. Inherited mutations in HAMP itself or in its upstream regulators (such as HFE2/hemojuvelin, transferrin receptor 2, and TMPRSS6) disrupt the hepcidin–ferroportin axis, causing either iron overload disorders (juvenile or classical hemochromatosis) when hepcidin is deficient"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "14", "end_ref": "16"}]}, {"type": "t", "text": "or iron-restricted anemias when hepcidin is overproduced (for example, in the anemia of inflammation or in hepatic adenomas producing excess hepcidin)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "17"}]}, {"type": "t", "text": " Additionally, aberrant hepcidin suppression by erythroid signals—as observed in thalassemia syndromes—is linked to pathologic iron hyperabsorption."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "19"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its endocrine role in iron metabolism, hepcidin (also known as LEAP-1) exhibits antimicrobial properties and contributes to innate immunity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "21"}]}, {"type": "t", "text": " This dual function links the regulation of iron availability to host defense mechanisms by limiting iron accessibility to invading pathogens. Recent preclinical studies employing synthetic hepcidin have demonstrated that a single dose can rapidly and sustainably reduce circulating iron levels by recapitulating the natural hepcidin–ferroportin interaction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}, {"type": "fg_f", "ref": "23"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, hepcidin is a pivotal hormone that integrates signals from iron status, inflammation, growth factors, and cellular stress to govern iron absorption, distribution, and recycling. By modulating ferroportin abundance on key cell types, its precise regulation is essential for maintaining systemic iron balance and for linking iron metabolism to immune and erythropoietic responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "24"}, {"type": "fg_f", "ref": "12"}, {"type": "fg_f", "ref": "25"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Elizabeta Nemeth, Marie S Tuttle, Julie Powelson, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2002-10-3235"}], "href": "https://doi.org/10.1182/blood-2002-10-3235"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12433676"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12433676"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Tomas Ganz "}, {"type": "b", "children": [{"type": "t", "text": "Hepcidin and iron regulation, 10 years later."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2011-01-258467"}], "href": "https://doi.org/10.1182/blood-2011-01-258467"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21346250"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21346250"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ivana De Domenico, Diane McVey Ward, Charles Langelier, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2005-04-1766"}], "href": "https://doi.org/10.1182/blood-2005-04-1766"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15933050"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15933050"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Elizabeta Nemeth, Seth Rivera, Victoria Gabayan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI20945"}], "href": "https://doi.org/10.1172/JCI20945"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15124018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15124018"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Diedra M Wrighting, Nancy C Andrews "}, {"type": "b", "children": [{"type": "t", "text": "Interleukin-6 induces hepcidin expression through STAT3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2006-06-027631"}], "href": "https://doi.org/10.1182/blood-2006-06-027631"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16835372"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16835372"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Carole Peyssonnaux, Annelies S Zinkernagel, Vivekanand Datta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TLR4-dependent hepcidin expression by myeloid cells in response to bacterial pathogens."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2005-06-2259"}], "href": "https://doi.org/10.1182/blood-2005-06-2259"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16391018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16391018"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Nancy C Andrews "}, {"type": "b", "children": [{"type": "t", "text": "Anemia of inflammation: the cytokine-hepcidin link."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI21441"}], "href": "https://doi.org/10.1172/JCI21441"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15124013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15124013"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Antonello Pietrangelo, Uta Dierssen, Linda Valli, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Lack of the bone morphogenetic protein BMP6 induces massive iron overload."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.320"}], "href": "https://doi.org/10.1038/ng.320"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19252488"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19252488"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Jaroslav Truksa, Hongfan Peng, Pauline Lee, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "ER stress controls iron metabolism through induction of hepcidin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1176639"}], "href": "https://doi.org/10.1126/science.1176639"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19679815"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19679815"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Tomas Ganz "}, {"type": "b", "children": [{"type": "t", "text": "Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2003-03-0672"}], "href": "https://doi.org/10.1182/blood-2003-03-0672"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12663437"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12663437"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Antonella Roetto, George Papanikolaou, Marianna Politou, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2002-04-1260"}], "href": "https://doi.org/10.1182/blood-2002-04-1260"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12393428"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12393428"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Elizabeta Nemeth, Antonella Roetto, Giovanni Garozzo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hepcidin is decreased in TFR2 hemochromatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2004-08-3042"}], "href": "https://doi.org/10.1182/blood-2004-08-3042"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15486069"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15486069"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Toshihiko Tanno, Natarajan V Bhanu, Patricia A Oneal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm1629"}], "href": "https://doi.org/10.1038/nm1629"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17721544"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17721544"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Raffaella Origa, Renzo Galanello, Tomas Ganz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Liver iron concentrations and urinary hepcidin in beta-thalassemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Haematologica (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3324/haematol.10842"}], "href": "https://doi.org/10.3324/haematol.10842"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17488680"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17488680"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "A Krause, S Neitz, H J Mägert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2000)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0014-5793(00)01920-7"}], "href": "https://doi.org/10.1016/s0014-5793(00"}, {"type": "t", "text": "01920-7) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11034317"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11034317"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Howard N Hunter, D Bruce Fulton, Tomas Ganz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M205305200"}], "href": "https://doi.org/10.1074/jbc.M205305200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12138110"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12138110"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Alicia R Folgueras, Fernando Martín de Lara, Alberto M Pendás, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2008-04-149773"}], "href": "https://doi.org/10.1182/blood-2008-04-149773"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18523150"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18523150"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Karin E Finberg, Matthew M Heeney, Dean R Campagna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.130"}], "href": "https://doi.org/10.1038/ng.130"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18408718"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18408718"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Martina Muckenthaler, Cindy N Roy, Angel O Custodio, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1152"}], "href": "https://doi.org/10.1038/ng1152"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12704390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12704390"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Duygu Dee Harrison-Findik, Denise Schafer, Elizabeth Klein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M602098200"}], "href": "https://doi.org/10.1074/jbc.M602098200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16737972"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16737972"}]}]}]}
Synonyms LEAP1, HFE2B, PLTR, HEPC
Proteins HEPC_HUMAN
NCBI Gene ID 57817
API
Download Associations
Predicted Functions View HAMP's ARCHS4 Predicted Functions.
Co-expressed Genes View HAMP's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View HAMP's ARCHS4 Predicted Functions.

Functional Associations

HAMP has 6,929 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 100 datasets.

Click the + buttons to view associations for HAMP from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of HAMP gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of HAMP gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of HAMP gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of HAMP gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Cell Line Gene Expression Profiles cell lines with high or low expression of HAMP gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of HAMP gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of HAMP gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of HAMP gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of HAMP gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with HAMP gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of HAMP gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of HAMP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of HAMP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations phenotypes associated with HAMP gene from the curated ClinVar Gene-Phenotype Associations dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with HAMP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CMAP Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of HAMP gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing HAMP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing HAMP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with HAMP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with HAMP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of HAMP gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with HAMP gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Chemical Interactions chemicals interacting with HAMP gene/protein from the curated CTD Gene-Chemical Interactions dataset.
CTD Gene-Disease Associations diseases associated with HAMP gene/protein from the curated CTD Gene-Disease Associations dataset.
DISEASES Curated Gene-Disease Association Evidence Scores diseases involving HAMP gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving HAMP gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with HAMP gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with HAMP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with HAMP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with HAMP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with HAMP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at HAMP gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of HAMP gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of HAMP gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GAD Gene-Disease Associations diseases associated with HAMP gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with HAMP gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GDSC Cell Line Gene Expression Profiles cell lines with high or low expression of HAMP gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with HAMP gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing HAMP from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of HAMP gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of HAMP gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of HAMP gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of HAMP gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of HAMP gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of HAMP gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2015 biological processes involving HAMP gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving HAMP gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving HAMP gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing HAMP protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by HAMP gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by HAMP gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of HAMP gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of HAMP gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of HAMP gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with HAMP gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of HAMP gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HMDB Metabolites of Enzymes interacting metabolites for HAMP protein from the curated HMDB Metabolites of Enzymes dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of HAMP gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of HAMP gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of HAMP gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
HPO Gene-Disease Associations phenotypes associated with HAMP gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with HAMP gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for HAMP protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of HAMP gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of HAMP gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of HAMP gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
KEGG Pathways 2026 pathways involving HAMP protein from the KEGG Pathways 2026 dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of HAMP gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with HAMP gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of HAMP gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of HAMP gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of HAMP gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of HAMP gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain HAMP protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by HAMP gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of HAMP gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of HAMP gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by HAMP gene mutations from the MPO Gene-Phenotype Associations dataset.
MSigDB Cancer Gene Co-expression Modules co-expressed genes for HAMP from the MSigDB Cancer Gene Co-expression Modules dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of HAMP gene from the NIBR DRUG-seq U2OS MoA Box dataset.
OMIM Gene-Disease Associations phenotypes associated with HAMP gene from the curated OMIM Gene-Disease Associations dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for HAMP from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of HAMP gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of HAMP gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving HAMP protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving HAMP protein from the Wikipathways PFOCR 2024 dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at HAMP gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of HAMP gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of HAMP gene from the RummaGEO Gene Perturbation Signatures dataset.
Tabula Sapiens Gene-Cell Associations cell types with high or low expression of HAMP gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of HAMP gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of HAMP gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of HAMP protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of HAMP protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of HAMP protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of HAMP protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with HAMP protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with HAMP protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2014 pathways involving HAMP protein from the Wikipathways Pathways 2014 dataset.
WikiPathways Pathways 2024 pathways involving HAMP protein from the WikiPathways Pathways 2024 dataset.