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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HAMP
hepcidin antimicrobial peptide
Chromosome 19 Β· 19q13.12
NCBI Gene: 57817Ensembl: ENSG00000105697.10HGNC: HGNC:15598UniProt: P81172
477PubMed Papers
21Diseases
1Drugs
8Pathogenic Variants
RESEARCH IMPACT
Highly Studied
CLINICAL
Early PipelineOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
hormone activitynegative regulation of iron export across plasma membranemulticellular organismal-level iron ion homeostasisintracellular iron ion homeostasishemochromatosis type 2Bhemochromatosis type 2hereditary hemochromatosisneurodegenerative disease
✦AI Summary

HAMP encodes hepcidin, a 25-amino acid peptide hormone that serves as the master regulator of systemic iron homeostasis 1. Hepcidin functions by binding to ferroportin, the cellular iron exporter, causing its internalization and degradation, which decreases cellular iron export and completes a homeostatic feedback loop where iron levels regulate hepcidin secretion 2. This hormone is primarily produced by hepatocytes and macrophages and controls iron efflux throughout the body, regulating intestinal iron absorption and maternal-fetal iron transport 3. Beyond iron regulation, hepcidin also functions as a mediator of innate immunity and is responsible for hypoferremia during inflammation 3. Disruption of hepcidin function is central to hemochromatosis pathogenesis, where genetically determined lack of hepcidin synthesis or activity causes iron overload, similar to insulin's role in diabetes 4. HAMP mutations are associated with non-HFE hemochromatosis, particularly hemochromatosis 2B, which can present with earlier onset and more severe phenotypes than classic hemochromatosis 5. The gene's polymorphisms, such as rs10421768, can influence hepcidin levels and may affect disease susceptibility 6.

Sources cited
1
Hepcidin functions as a hormone in systemic iron regulation alongside ferroportin
PMID: 20603012
2
Hepcidin binds to ferroportin causing its internalization and degradation, decreasing cellular iron export
PMID: 15514116
3
Hepcidin is produced by hepatocytes and macrophages, regulates intestinal iron absorption and mediates hypoferremia of inflammation
PMID: 15314524
4
Hepcidin deficiency is central to hemochromatosis pathogenesis, analogous to insulin in diabetes
PMID: 16848707
5
HAMP mutations cause non-HFE hemochromatosis with potentially earlier onset and more severe phenotypes
PMID: 16315138
6
HAMP gene polymorphisms like rs10421768 can influence serum hepcidin levels
PMID: 38935685
Disease Associationsβ“˜21
hemochromatosis type 2BOpen Targets
0.80Strong
hemochromatosis type 2Open Targets
0.46Moderate
hereditary hemochromatosisOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.18Weak
salivary gland diseaseOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.13Weak
anemiaOpen Targets
0.12Weak
acute kidney injuryOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
chronic kidney diseaseOpen Targets
0.11Weak
inflammatory bowel diseaseOpen Targets
0.11Weak
malariaOpen Targets
0.11Weak
non-alcoholic fatty liver diseaseOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.11Weak
SepsisOpen Targets
0.10Weak
COVID-19Open Targets
0.10Weak
Reunion island Larsen syndromeOpen Targets
0.10Weak
Reunion Island's Larsen syndromeOpen Targets
0.10Weak
Hemochromatosis 2BUniProt
Pathogenic Variants8
NM_021175.4(HAMP):c.223C>T (p.Arg75Ter)Likely pathogenic
Hereditary hemochromatosis|Hemochromatosis type 2B
β˜…β˜…β˜†β˜†2025β†’ Residue 75
NM_021175.4(HAMP):c.-25G>APathogenic
Hemochromatosis type 2B|Hereditary hemochromatosis
β˜…β˜…β˜†β˜†2024
NM_021175.4(HAMP):c.2T>C (p.Met1Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_021175.4(HAMP):c.185A>G (p.His62Arg)Likely pathogenic
Hemochromatosis type 2B
β˜…β˜†β˜†β˜†2025β†’ Residue 62
NM_021175.4(HAMP):c.176G>C (p.Arg59Pro)Pathogenic
Hemochromatosis type 2B
β˜†β˜†β˜†β˜†2019β†’ Residue 59
NM_021175.4(HAMP):c.148_150+1delPathogenic
Hemochromatosis, juvenile, digenic
β˜†β˜†β˜†β˜†2003
NM_021175.4(HAMP):c.166C>T (p.Arg56Ter)Pathogenic
Hemochromatosis type 2B
β˜†β˜†β˜†β˜†2003β†’ Residue 56
NM_021175.4(HAMP):c.95del (p.Gly32fs)Pathogenic
Hemochromatosis type 2B
β˜†β˜†β˜†β˜†2003β†’ Residue 32
View on ClinVar β†—
Drug Targets1
LY-2787106Phase I
Hepcidin inhibitor
anemia
Related Genes
SLC39A14Protein interaction100%IGLProtein interaction93%IGLL5Protein interaction92%LEAP2Protein interaction92%EPOProtein interaction91%BMP6Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Brain
1%
Bone Marrow
1%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
HAMPSLC39A14IGLIGLL5LEAP2EPOBMP6
PROTEIN STRUCTURE
Preparing viewer…
PDB3H0T Β· 1.89 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.46LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.75 [0.41–1.46]
RankingsWhere HAMP stands among ~20K protein-coding genes
  • #561of 20,598
    Most Researched477 Β· top 5%
  • #3,015of 5,498
    Most Pathogenic Variants8
  • #14,952of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedHAMP
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Two to tango: regulation of Mammalian iron metabolism.
PMID: 20603012
Cell Β· 2010
1.00
2
Non-HFE haemochromatosis.
PMID: 17729390
World J Gastroenterol Β· 2007
0.92
3
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.
PMID: 15514116
Science Β· 2004
0.90
4
Hereditary hemochromatosis.
PMID: 16848707
Annu Rev Nutr Β· 2006
0.80
5
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
PMID: 19214511
Ann Hematol Β· 2009
0.72