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Aliases & Descriptions for HAMP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
User Feedback | | Aliases & Descriptions |
|---|
| hepcidin antimicrobial peptide1 2 | | Liver-expressed antimicrobial peptide 12 3 | | LEAP11 2 3 5 | | Putative liver tumor regressor2 3 | | HEPC1 2 3 5 | | PLTR2 3 | | HFE2B1 2 5 | | hepcidin2 | | LEAP-11 3 | | |
Search outside databases for aliases for HAMP genePrevious GC identifers: GC19P036390 GC19P036222 GC19P040447 GC19P040465 |
Summaries for HAMP gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
User Feedback | Entrez Gene summary for HAMP: The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for theregulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein ispost-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich incysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibitantimicrobial activity. 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. (providedby RefSeq) UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172Function: Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required inconjunction with HFE to regulate both intestinal iron absorption and iron storage in macrophages (By similarity)Function: Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureusand group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa Gene Wiki entry for HAMP |
Genomic Views for HAMP gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl (release 56),
Regulatory elements and Epigenetics data according to
SABiosciences) About This Section
User Feedback | Regulatory elements:
SABiosciences Regulatory transcription factor binding sites in the HAMP gene upstream (promoter) region : HNF-4alpha2 ATF deltaCREB CREB p300 c-Myc Max1 C/EBPalpha Max COUP-TF1
Epigenetics:
SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for HAMP:  MePH24426-2A
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.1HAMP Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P035773: view genomic region
(about GC identifiers)
Start:
|
35,773,410 bp from pter |
End:
|
35,776,046 bp from pter |
Size:
|
2,637 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000019.9 NT_011109.16
| Proteins for HAMP gene
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene,
Novus Biologicals, and/or
Sino Biological,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abnova,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
User Feedback | UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172 (See
protein sequence)Recommended Name: Hepcidin precursor Size: 84 amino acids; 9408 Da
Subcellular location: Secreted
Mass spectrometry: Mass=2789.8; Method=MALDI; Range=60-84; Source=PubMed:11034317;
PDB structures from and Proteopedia :1M4E (3D)
 1M4F (3D)
 2KEF (3D)
 3H0T (3D)
 
Secondary accessions: Q1HE14 Q9BY68REFSEQ proteins: NP_066998.1
ENSEMBL proteins: ENSP00000222304
Human Recombinant Proteins
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
HAMP for ontologies About GeneDecksing
Antibodies for HAMP: Assays for HAMP: | Protein
Domains/ Families for HAMP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
User Feedback |
HAMP for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P81172ProtoNet protein and cluster: P81172 1 Blocks protein family: IPB010500 Hepcidin
UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172Similarity: Belongs to the hepcidin family | Gene Function for HAMP gene
(According to MGI May 08 2010, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Millipore,
Abnova,
siRNAs from
Applied Biosystems,
Sigma-Aldrich, Clones from
Millipore,
Sigma-Aldrich,
OriGene,
Sino Biological,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene.)
About This Section
User Feedback | UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172Function: Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required inconjunction with HFE to regulate both intestinal iron absorption and iron storage in macrophages (By similarity)Function: Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureusand group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa 1 Gene Ontology (GO) molecular function term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005179 | hormone activity |
IEA | -- | About this table
HAMP for ontologies About GeneDecksing
Animal Models: 4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hamp):
HAMP for phenotypes About GeneDecksing
| Pathways & Interactions for HAMP gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
Applied Biosystems GeneAssist,
KEGG
and/or UniProtKB,
(map by GeneGo),
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene).
About This Section
User Feedback |
HAMP for pathways About GeneDecksing
1 Sigma-Aldrich "Your Favorite Gene" Pathway for HAMP (Your Favorite Gene powered by Ingenuity)
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HAMP
5 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
HAMP for ontologies About GeneDecksing
|
Drugs & Compounds for HAMP gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
User Feedback |
HAMP for compounds About GeneDecksing
Browse Tocris compounds for HAMP 10/73 Novoseek chemical compound relationships for HAMP gene (see all 73
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| iron |
100.00 |
1535 |
17488680 (11), 17720947 (9), 12637325 (9), 19740974 (8) (see all 100) |
| hepc |
27.84 |
20 |
12183449 (9), 11113132 (4), 16154838 (3), 12729891 (3) (see all 5) |
| ferric pyrophosphate |
3.59 |
2 |
19740974 (2) |
| gadolinium chloride |
2.72 |
3 |
19721414 (2), 19008338 (1) |
| interleukin 1 |
2.59 |
1 |
19608676 (1) |
| tocilizumab |
2.49 |
2 |
17550864 (2) |
| turpentine |
2.43 |
3 |
19533074 (1), 16928320 (1), 12370282 (1) |
| iron dextran |
2.43 |
3 |
18690415 (1), 17619950 (1), 15902304 (1) |
| phenylhydrazine |
2.36 |
3 |
16497104 (1), 15361505 (1), 12370282 (1) |
| ferrous sulfate |
1.99 |
3 |
19740974 (2), 19144662 (1) |
About this table
|
Transcripts for HAMP gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Primers from
OriGene and/or
SABiosciences, Expression Assays from Applied Biosystems) About This Section
User Feedback | Assays: Applied Biosystems TaqMan® Gene Expression Assays: NM_021175
| Clones: |  | Origene GFP tagged cDNA clones in CMV expression vector: HAMP Origene Myc/DDK tagged cDNA clones in CMV expression vector: HAMP Origene untagged cDNA clones in CMV expression vector: HAMP
|
| Primers: |  | Origene genome-wide validated SYBR primer pairs: HAMP
| |  | SABiosciences RT2 qPCR Primer Assay for HAMP: PPH06152A  |
REFSEQ mRNAs for HAMP gene: NM_021175.2 Additional cDNA sequence: AF131292.1 AF147355.1 AF309489.1 AJ277280.1 AY358669.1 BC020612.1 3 DOTS entries: DT.104663 DT.100018766 DT.100018767 20 AceView cDNA sequences: AF147355 BX089371 AJ277280 NM_021175 BM719679 AI797446 BC020612 AF309489 AY358669 BM684049 CB116625 AK096110 T48278 AF131292 T48277 BG562482 AI829866 AI937227 BU587812 BP346863
highest scoring ESTs for HAMP:AI937227 AF131292 AF309489 AI797446 AI829866 AJ277280 AY358669 BC020612 BG562482 BG568102 Unigene Cluster for HAMP: Hepcidin antimicrobial peptide Hs.8821 [show with all ESTs]Unigene Representative Sequence: DR004094
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000222304
|
Expression for HAMP gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 223 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems,
Primers from
OriGene and/or
SABiosciences
)
About This Section
User Feedback | HAMP expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for HAMP
1 / 2 / 3 3 probe-sets matching HAMP gene
Affymetrix probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 56641_at2, 3
|
U95-B |
1 |
0.94 |
1.00 |
1.00 |
1.00 |
AI937227 |
1.00 |
1.00 |
1.00 |
1 |
| 220491_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_021175 |
0.60 |
1.00 |
0.82 |
1 |
| 220491_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
HAMP for expression About GeneDecksing
Data from
Genenote 
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTCCAGAGGC
SOURCE GeneReport for Unigene cluster: Hs.8821 UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172Tissue 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
| Primers: |  | Origene genome-wide validated SYBR primer pairs: HAMP 
| |  | SABiosciences RT2 qPCR Primer Assay for HAMP: PPH06152A  |
|
Orthologs for HAMP gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
User Feedback |
Orthologs for HAMP gene from 4 species
About this table Species with no ortholog for HAMP
ENSEMBL Gene Tree for HAMP | Paralogs for HAMP gene(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
User Feedback | -- |
Genomic Variants for HAMP gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants,
Genotyping Reagents from
Applied Biosystems)
About This Section
User Feedback |
HapMap Linkage Disequilibrium images for HAMP (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  Database of Genomic Variants (DGV): 1 variation for HAMP 1 CNV: 4078 |
Disorders & Mutations for HAMP gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
User Feedback |
HAMP for disorders About GeneDecksing
OMIM: 606464 disorders: 613313 UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Defects in HAMP are the cause of hemochromatosis type 2B (HFE2B) [MIM:602390]; also known as juvenilehemochromatosis (JH). HFE2B is an early-onset autosomal recessive disorder due to severe iron overload resulting inhypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of30. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron
10/149 Novoseek disease relationships for HAMP gene (see all 149
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| anemia |
100.00 |
227 |
18519751 (5), 19857675 (4), 19250447 (4), 18676162 (4) (see all 100) |
| hemochromatosis |
100.00 |
133 |
17724144 (4), 16103673 (4), 19625109 (3), 19286879 (3) (see all 97) |
| juvenile hemochromatosis |
100.00 |
40 |
17229647 (2), 15811010 (2), 15099344 (2), 12915468 (2) (see all 35) |
| iron overload |
100.00 |
185 |
14770366 (5), 17488680 (4), 17098454 (4), 20045050 (3) (see all 100) |
| hereditary hemochromatosis |
100.00 |
86 |
18164223 (3), 12637325 (3), 12547226 (3), 19571663 (2) (see all 71) |
| inflammation |
77.22 |
196 |
16254410 (5), 15793843 (4), 12663437 (4), 20030521 (3) (see all 100) |
| deficiency; iron |
59.66 |
57 |
19715836 (4), 19907147 (2), 19228364 (2), 19107209 (2) (see all 50) |
| iron disorder |
43.74 |
17 |
19555735 (2), 17124036 (2), 19907144 (1), 19528880 (1) (see all 15) |
| anemia deficiency iron |
24.87 |
28 |
19107209 (7), 19863534 (3), 17720947 (2), 20090120 (1) (see all 19) |
| beta-thalassemia |
22.40 |
29 |
16939499 (6), 19059700 (4), 16755567 (4), 17488680 (3) (see all 14) |
About this table
GeneTests: HAMP Juvenile Hemochromatosis Human Gene Mutation Database: HAMP Genetic Association Database: HAMP Human Genome Epidemiology Navigator: HAMP (12 documents)
|
Medical News for HAMP gene(Possibly Related Articles in
Doctor's Guide)
About This Section
User Feedback | -- |
Publications for HAMP gene (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
User Feedback | 10/373 PubMed articles for HAMP gene (see all 373
):- HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. (PubMed id 14670915)1, 3, 4, 6 Jacolot S.... Ferec C. (2004)
- LEAP-1, a novel highly disulfide-bonded human peptide exhibits antimicrobial activity. (PubMed id 11034317)2, 3, 4 Krause A.... Adermann K. (2000)
- A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. (PubMed id 11113132)1, 2, 3 Pigeon C....Loreal O. (2001)
- Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). (PubMed id 14630809)1, 3, 4 Roetto A.... Camaschella C. (2004)
- Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. (PubMed id 12915468)1, 3, 4 Merryweather-Clarke A.T....Robson K.J. (2003)
- The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis. (PubMed id 12138110)1, 3, 4 Hunter H.N.... Vogel H.J. (2002)
- Chemical synthesis of beta-defensins and LEAP-1/hepcidin. (PubMed id 12010514)1, 3, 4 Kluever E.... Adermann K. (2002)
- Hepcidin: a urinary antimicrobial peptide synthesized in the liver. (PubMed id 11113131)1, 3, 4 Park C.H.... Ganz T. (2001)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)3, 4 Grimwood J.... Lucas S.M. (2004)
|
Search for HAMP gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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|
Genome Databases showing HAMP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
User Feedback |
| Other Databases showing HAMP gene
(According to HUGE)
About This Section
User Feedback | -- |
Specialized Databases showing HAMP gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
User Feedback |
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HAMP | | Wikipedia | http://en.wikipedia.org/wiki/Hepcidin |
|
| | | About This Section
User Feedback | Patent Information for HAMP gene:  Search GeneIP for patents involving HAMP
GeneCards and IP:  Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
| Services for HAMP gene(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Novus Biologicals, Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova, Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
User Feedback | 
 Products for HAMP:
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| | | Search Tocris compounds for HAMP |
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