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Aliases for HAMP Gene

Subcategory (RNA class) for HAMP Gene

lncRNA

Aliases for HAMP Gene

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

External Ids for HAMP Gene

ORGUL Members for HAMP Gene

Previous GeneCards Identifiers for HAMP Gene

  • GC19P036390
  • GC19P036222
  • GC19P040447
  • GC19P040465
  • GC19P035773
  • GC19P032282
  • GC19P035777
  • GC19P035955
  • GC19P035281
  • GC19P035284
  • GC19P036050

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, and is affiliated with the lncRNA class. Diseases associated with HAMP include Hemochromatosis, Type 2B and Hemochromatosis. Among its related pathways are Hfe effect on hepcidin production and Iron metabolism in placenta. GO annotations related to this gene include receptor binding and ion channel inhibitor activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HAMP Gene

Genomics for HAMP Gene

Regulatory Elements for HAMP Gene

Enhancers for HAMP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G035208 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -68.3 -68292 7.1 CREB3L1 FEZF1 ZNF143 ZNF416 ZNF548 ZNF263 SP3 NFYC TBX21 MEF2D TMEM147-AS1 HAUS5 ZNF792 KMT2B KIAA0355 RBM42 ENSG00000267049 ENSG00000268947 ENSG00000267219 LRFN3
GH19G035202 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -75.2 -75175 6.1 DMAP1 YBX1 YY1 ZNF143 ZNF416 ZNF548 ZNF263 SP3 NFYC TBX21 TMEM147-AS1 RBM42 ZNF792 KIAA0355 HAUS5 KMT2B LRFN3 FXYD5 ENSG00000267049 ENSG00000271049
GH19G035328 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 +50.3 50319 5.1 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF416 TMEM147-AS1 MAG KMT2B ZNF792 ZNF146 RBM42 CD22 ENSG00000271032 KRTDAP DMKN
GH19G035304 1.6 Ensembl ENCODE dbSUPER 11.6 +27.2 27248 6.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT MLX ARID4B ZNF766 CBX5 FOS MAG CD22 LSR HAMP DMKN FAM187B KRTDAP ENSG00000233214 ENSG00000232680 ATP4A
GH19G035217 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -63.5 -63516 1.2 BCOR CTCF ESRRA ZNF777 CBX3 NR2F1 BHLHE40 ZMYM3 USF2 REST USF2 HAMP MAG FFAR3 FAM187B FXYD5 FFAR2 GC19P036380 LOC105372379
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAMP on UCSC Golden Path with GeneCards custom track

Genomic Location for HAMP Gene

Chromosome:
19
Start:
35,280,716 bp from pter
End:
35,285,143 bp from pter
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

ORGUL Member Location for HAMP Gene

ORGUL Member Location 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

No Post-translational modifications

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

Protein Domains for HAMP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HAMP Gene

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

No data available for Gene Families for HAMP Gene

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).

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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , 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
cytosol 3
plasma membrane 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
endosome 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 --
GO:0005737 cytoplasm IEA --
GO:0014704 intercalated disc IEA --
GO:0045179 apical cortex IEA --
genes like me logo Genes that share ontologies with HAMP: view

Pathways & Interactions for HAMP Gene

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

Pathways by source for HAMP Gene

Interacting Proteins for HAMP Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000222304%0d%0a9606.ENSP00000396505%0d%0a9606.ENSP00000277480%0d%0a9606.ENSP00000431254%0d%0a9606.ENSP00000329312%0d%0a9606.ENSP00000261024%0d%0a
Selected Interacting proteins: P81172-HEPC_HUMAN ENSP00000222304 for HAMP Gene via IID STRING

Gene Ontology (GO) - Biological Process for HAMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0006879 cellular iron ion homeostasis IDA 15514116
GO:0006953 acute-phase response IEA --
GO:0006955 immune response TAS 11113131
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with HAMP: view

No data available for SIGNOR curated interactions for HAMP Gene

Drugs & Compounds for HAMP Gene

(3) Drugs for HAMP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for HAMP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with HAMP: view

Transcripts for HAMP Gene

mRNA/cDNA for HAMP Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HAMP Gene

Hepcidin antimicrobial peptide:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for HAMP Gene

GeneLoc Exon Structure for
HAMP
ECgene alternative splicing isoforms for
HAMP

Expression for HAMP Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of HAMP Gene:

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(4.5)
  • Urine(4.4)
  • Intestine(2.6)
  • Heart(2.4)
  • Muscle(2.3)
  • Spleen(2.1)
  • Kidney(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
Organs:
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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HAMP Gene

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 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia HAMP 34 35
  • 77.78 (n)
cow
(Bos Taurus)
Mammalia HAMP 34 35
  • 76.02 (n)
mouse
(Mus musculus)
Mammalia Hamp 35
  • 59 (a)
OneToMany
Hamp2 35
  • 52 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HAMP 35
  • 46 (a)
OneToOne
Species where no ortholog for HAMP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for HAMP Gene

No data available for Paralogs for HAMP Gene

Variants for HAMP Gene

Sequence variations from dbSNP and Humsavar for HAMP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894696 other, Hemochromatosis 2B (HFE2B) [MIM:613313] 35,284,999(+) CTGCG(A/G)CTGCT reference, missense
rs779021719 Uncertain significance, Hemochromatosis 2B (HFE2B) [MIM:613313] 35,284,962(+) GGAGG(C/G)GAGAC reference, missense
VAR_042513 Hemochromatosis 2B (HFE2B) [MIM:613313]
VAR_042514 Hemochromatosis 2B (HFE2B) [MIM:613313]
rs104894695 Pathogenic 35,284,953(+) AGAGG(C/T)GAAGG reference, stop-gained

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)

Relevant External Links for HAMP Gene

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

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

Disorders for HAMP Gene

MalaCards: The human disease database

(25) MalaCards diseases for HAMP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis, type 2b
  • hemochromatosis type 2b
hemochromatosis
  • hfe hemochromatosis, modifier of
hemochromatosis type 2
  • hfe2
hamp-related juvenile hemochromatosis
  • hemochromatosis, type 2b
deficiency anemia
  • anemia
- 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.

Relevant External Links for HAMP

Genetic Association Database (GAD)
HAMP
Human Genome Epidemiology (HuGE) Navigator
HAMP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAMP
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 22 46 64
  2. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (PMID: 18762941) Mendes A.I. … Faustino P. (Ann. Hematol. 2009) 3 22 46 64
  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) AltA"s A. … Baiget M. (Ann. Hematol. 2009) 3 22 46 64
  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 22 46 64
  5. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J. … Mosser J. (Am. J. Hum. Genet. 2007) 3 22 46 64

Products for HAMP Gene

Sources for HAMP Gene

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