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 s... See more...

Aliases for HAMP Gene

Aliases for HAMP Gene

  • Hepcidin Antimicrobial Peptide 2 3 5
  • LEAP1 2 3 4
  • HEPC 2 3 4
  • Liver-Expressed Antimicrobial Peptide 1 3 4
  • Putative Liver Tumor Regressor 3 4
  • Hepcidin 3 4
  • LEAP-1 2 4
  • HFE2B 2 3
  • PLTR 3 4
  • Hepcidin Preproprotein 3
  • HAMP 5

External Ids for HAMP Gene

Previous GeneCards Identifiers for HAMP Gene

  • GC19P036390
  • GC19P036222
  • GC19P040447
  • GC19P040465
  • GC19P035773
  • GC19P032282
  • GC19P035777
  • GC19P035955
  • GC19P035281
  • GC19P037009
  • GC19P037177
  • GC19P037273
  • GC19P037707
  • GC19P035284
  • GC19P036050
  • GC19P036223
  • GC19P036399
  • GC19P036560
  • GC19P036729
  • GC19P036871

Summaries for HAMP Gene

Entrez Gene Summary for HAMP Gene

  • 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]

GeneCards Summary for HAMP Gene

HAMP (Hepcidin Antimicrobial Peptide) is a Protein Coding gene. Diseases associated with HAMP include Hemochromatosis, Type 2B and Hemochromatosis, Type 1. Among its related pathways are TGF-beta signaling pathway (KEGG) and Hfe effect on hepcidin production. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ion channel inhibitor activity.

UniProtKB/Swiss-Prot Summary for HAMP Gene

  • Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).
  • Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11113131, PubMed:11034317).

Gene Wiki entry for HAMP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAMP Gene

Genomics for HAMP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HAMP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAMP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAMP

Top Transcription factor binding sites by QIAGEN in the HAMP gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • p300
  • STAT3

Genomic Locations for HAMP Gene

Genomic Locations for HAMP Gene
chr19:35,280,716-35,285,143
(GRCh38/hg38)
Size:
4,428 bases
Orientation:
Plus strand
chr19:35,771,619-35,776,046
(GRCh37/hg19)
Size:
4,428 bases
Orientation:
Plus strand

Genomic View for HAMP Gene

Genes around HAMP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAMP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAMP Gene

Proteins for HAMP Gene

  • Protein details for HAMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P81172-HEPC_HUMAN
    Recommended name:
    Hepcidin
    Protein Accession:
    P81172
    Secondary Accessions:
    • Q1HE14
    • Q9BY68

    Protein attributes for HAMP Gene

    Size:
    84 amino acids
    Molecular mass:
    9408 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HAMP Gene

neXtProt entry for HAMP Gene

Post-translational modifications for HAMP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAMP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HAMP Gene

Domains & Families for HAMP Gene

Gene Families for HAMP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted secreted proteins
  • Transporters

Protein Domains for HAMP Gene

InterPro:
Blocks:
  • Hepcidin
ProtoNet:

Suggested Antigen Peptide Sequences for HAMP Gene

GenScript: Design optimal peptide antigens:
  • Hepcidin antimicrobial peptide (B6EU04_HUMAN)
  • Putative liver tumor regressor (HEPC_HUMAN)
  • Hepcidin antimicrobial peptide (Q6KC15_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P81172

UniProtKB/Swiss-Prot:

HEPC_HUMAN :
  • Belongs to the hepcidin family.
Family:
  • Belongs to the hepcidin family.
genes like me logo Genes that share domains with HAMP: view

Function for HAMP Gene

Molecular function for HAMP Gene

UniProtKB/Swiss-Prot Function:
Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).
UniProtKB/Swiss-Prot Function:
Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11113131, PubMed:11034317).

Phenotypes From GWAS Catalog for HAMP Gene

Gene Ontology (GO) - Molecular Function for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
genes like me logo Genes that share ontologies with HAMP: view
genes like me logo Genes that share phenotypes with HAMP: view

Human Phenotype Ontology for HAMP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for HAMP

CRISPR Products

miRNA for HAMP Gene

miRTarBase miRNAs that target HAMP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAMP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HAMP Gene

Localization for HAMP Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAMP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAMP gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 11034317
GO:0005615 extracellular space IBA 21873635
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0014704 intercalated disc IEA --
genes like me logo Genes that share ontologies with HAMP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HAMP Gene

Pathways & Interactions for HAMP Gene

genes like me logo Genes that share pathways with HAMP: view

Pathways by source for HAMP Gene

1 KEGG pathway for HAMP Gene

Interacting Proteins for HAMP Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 8)
STRING Interaction Network
Selected Interacting proteins: ENSP00000471894 P81172-HEPC_HUMAN for HAMP Gene via STRING IID

SIGNOR curated interactions for HAMP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006879 cellular iron ion homeostasis IDA 15514116
GO:0006953 acute-phase response IEA --
GO:0006955 immune response TAS 11113131
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with HAMP: view

Drugs & Compounds for HAMP Gene

(5) Drugs for HAMP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1560
Ferrous sulfate anhydrous Approved Pharma Enzyme, substrate 0

(1) Additional Compounds for HAMP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HAMP: view

Transcripts for HAMP Gene

mRNA/cDNA for HAMP Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAMP

Alternative Splicing Database (ASD) splice patterns (SP) for HAMP Gene

No ASD Table

Relevant External Links for HAMP Gene

GeneLoc Exon Structure for
HAMP

Expression for HAMP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for HAMP Gene

This gene is overexpressed in Liver (x35.4) and Heart - Atrial Appendage (x9.2).

Protein differential expression in normal tissues from HIPED for HAMP Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HAMP Gene



Protein tissue co-expression partners for HAMP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAMP

SOURCE GeneReport for Unigene cluster for HAMP Gene:

Hs.8821

mRNA Expression by UniProt/SwissProt for HAMP Gene:

P81172-HEPC_HUMAN
Tissue specificity: Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine.

Evidence on tissue expression from TISSUES for HAMP Gene

  • Liver(4.8)
  • Blood(4.6)
  • Urine(4.5)
  • Heart(3.1)
  • Intestine(3.1)
  • Muscle(3)
  • Nervous system(2.8)
  • Bone marrow(2.7)
  • Kidney(2.6)
  • Spleen(2.5)
  • Skin(2.3)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HAMP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • pituitary gland
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
Abdomen:
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HAMP: view

Orthologs for HAMP Gene

This gene was present in the common ancestor of mammals.

Orthologs for HAMP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HAMP 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HAMP 30 31
  • 77.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HAMP 30 31
  • 76.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hamp 31
  • 59 (a)
OneToMany
Hamp2 31
  • 52 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia HAMP 31
  • 46 (a)
OneToOne
Species where no ortholog for HAMP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for HAMP Gene

ENSEMBL:
Gene Tree for HAMP (if available)
TreeFam:
Gene Tree for HAMP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HAMP: view image

Paralogs for HAMP Gene

No data available for Paralogs for HAMP Gene

Variants for HAMP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAMP Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
4283 Pathogenic: Hemochromatosis type 2B 35,284,790(+) CG/C FRAMESHIFT_VARIANT
641643 Uncertain Significance: Hereditary hemochromatosis 35,284,942(+) T/C MISSENSE_VARIANT
750533 Likely Benign: not provided 35,284,797(+) A/G SYNONYMOUS_VARIANT
772813 Likely Benign: not provided 35,282,622(+) C/T SYNONYMOUS_VARIANT
784735 Likely Benign: Hereditary hemochromatosis 35,284,928(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HAMP Gene

Structural Variations from Database of Genomic Variants (DGV) for HAMP Gene

Variant ID Type Subtype PubMed ID
esv2758758 CNV loss 17122850
nsv510765 CNV deletion 20534489
nsv953283 CNV deletion 24416366

Variation tolerance for HAMP Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HAMP Gene

Human Gene Mutation Database (HGMD)
HAMP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAMP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAMP Gene

Disorders for HAMP Gene

MalaCards: The human disease database

(53) MalaCards diseases for HAMP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HAMP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEPC_HUMAN
  • Hemochromatosis 2B (HFE2B) [MIM:613313]: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. {ECO:0000269 PubMed:12915468, ECO:0000269 PubMed:14630809, ECO:0000269 PubMed:14633868, ECO:0000269 PubMed:14670915, ECO:0000269 PubMed:15099344}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HAMP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HAMP: view

No data available for Genatlas for HAMP Gene

Publications for HAMP Gene

  1. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. (PMID: 14670915) Jacolot S … Ferec C (Blood 2004) 3 4 23 41
  2. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (PMID: 18762941) Mendes AI … Faustino P (Annals of hematology 2009) 3 23 41
  3. 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) Altès A … Baiget M (Annals of hematology 2009) 3 23 41
  4. Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major. (PMID: 19734422) Andreani M … Grammatico P (Haematologica 2009) 3 23 41
  5. Hereditary hemochromatosis gene (HFE) variants are associated with birth weight and childhood leukemia risk. (PMID: 19711434) Dorak MT … Hall AG (Pediatric blood & cancer 2009) 3 23 41

Products for HAMP Gene

Sources for HAMP Gene