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HAMP Gene

protein-coding   GIFtS: 53

GC19P035773
hepcidin antimicrobial peptide
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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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     

External Ids:    HGNC: 155981   Entrez Gene: 578172   Ensembl: ENSG000001056977   UniProtKB: P811723   

Search outside databases for aliases for HAMP gene

Previous GC identifers: GC19P036390 GC19P036222 GC19P040447 GC19P040465

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HAMP:
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. 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)

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Function: Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required in
conjunction 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.aureus
and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa

Gene Wiki entry for HAMP
(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)
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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: 19q13.1

HAMP 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  
(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)
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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 Q9BY68

REFSEQ proteins: NP_066998.1  

ENSEMBL proteins: 
ENSP00000222304 


Human Recombinant Proteins 
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Novus Biologicals Lysate for HAMP
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3 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region NAS11034317
GO:0005737 cytoplasm IEA--
GO:0045179 apical cortex IEA--
About this table

"" HAMP for ontologies           About GeneDecksing



Antibodies for HAMP: 
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""Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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"" HAMP for domains           About GeneDecksing

1 InterPro domain/family:
 IPR010500 Hepcidin

Graphical View of Domain Structure for InterPro Entry P81172

ProtoNet protein and cluster: P81172

1 Blocks protein family: IPB010500 Hepcidin

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Similarity: Belongs to the hepcidin family

(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.)
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Inhib.
RNA:
""Browse for Gene Knock-down Tools from Millipore
""Abnova Chimera RNAi Products for Gene knock-down (HAMP)
"" Origene 29mer shRNA kits in GFP-retroviral vector: HAMP
Origene shRNA RFP: HAMP
Origene basic RS shRNA: HAMP

""Applied Biosystems Silencer® siRNAs for HAMP
""Sigma-Aldrich siRNA for HAMP
Sigma-Aldrich shRNA for HAMP
Explore Sigma-Aldrich super-pooled esiRNAs
Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
""Browse iPSC Reprogramming Factors at Sigma-Aldrich
"" 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
""Browse Sino Biological Human cDNA Clones  ""

UniProtKB/Swiss-Prot: HEPC_HUMAN, P81172
Function: Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required in
conjunction 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.aureus
and 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 IDQualified GO termEvidencePubMed IDs
GO:0005179 hormone activity IEA--
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Animal Models: 4 MGI mutant phenotypes (inferred from 1 allele""(MGI details for Hamp):

growth/sizehematopoietic systemhomeostasis/metabolismimmune system

"" HAMP for phenotypes           About GeneDecksing

(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).
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"" HAMP for pathways           About GeneDecksing

1 "" Sigma-Aldrich "Your Favorite Gene" Pathway for  HAMP  (Your Favorite Gene powered by Ingenuity)
  ""  Acute Phase Response Signaling

"" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HAMP

5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006879 cellular iron ion homeostasis IEA--
GO:0006955 immune response TAS11113131
GO:0031640 killing of cells of another organism IEA--
GO:0042742 defense response to bacterium IEA--
GO:0050832 defense response to fungus IEA--
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(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)
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"" HAMP for compounds           About GeneDecksing

"" Browse drugs & compounds from Enzo Life Sciences
""Browse Small Molecules at Sigma-Aldrich

"" 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


(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)
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Inhib.
RNA:
""Browse for Gene Knock-down Tools from Millipore
""Abnova Chimera RNAi Products for Gene knock-down (HAMP)
""Applied Biosystems Silencer® siRNAs:  NM_021175  
"" Origene 29mer shRNA kits in GFP-retroviral vector: HAMP
Origene shRNA RFP: HAMP
Origene basic RS shRNA: HAMP

""Sigma-Aldrich siRNA for HAMP
Sigma-Aldrich shRNA for HAMP
Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:""Search SABiosciences for microRNAs that regulate HAMP: ""
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  
(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 )
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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 -- -- -- -- -- -- --
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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, P81172
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

Primers:"" Origene genome-wide validated SYBR primer pairs: HAMP ""
""SABiosciences RT2 qPCR Primer Assay for HAMP: PPH06152A ""
(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)
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Orthologs for HAMP gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
HAMP1   -- hepcidin antimicrobial peptide 80.32(n)
71.08(a)
492281  NM_001007140.1  NP_001007141.1 
chimpanzee
(Pan troglodytes)
HAMP1   -- hepcidin antimicrobial peptide 99.6(n)
98.81(a)
744861  XM_001158692.1  XP_001158692.1 
cow
(Bos taurus)
HAMP1   -- hepcidin antimicrobial peptide 78.05(n)
70.73(a)
512301  XM_589792.3  XP_589792.2 
mouse
(Mus musculus)
Hamp5 7 (11.00 cM) hepcidin antimicrobial peptide   -- BC021587 
About this table        Species with no ortholog for HAMP

ENSEMBL Gene Tree for HAMP
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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  --
(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)
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10/22 NCBI SNPs in HAMP are shown (see all 22 )
(Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 35)
ABGenomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 19 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs18826951,2
C,F,A,H32280145(+) ACACAA/GTCACG 1 -- ng51 tfbs3""4Minor allele frequency- G:0.17NA EA WA 212""
""
rs104217681,2
C,F,A32281527(+) ACACCA/GCGTGC 1 -- ng51 tfbs3""13Minor allele frequency- G:0.10NS EA NA WA 966""
""
rs104148461,2
C,F,A32281099(+) ATGTAC/TTCATC 1 -- ng51""13Minor allele frequency- T:0.10NS EA NA 922""
--
rs668688581,2
C,F32280478(+) TGGGCC/TGTGTG 1 -- ng51""3Minor allele frequency- T:0.28NA EA WA 210""
""
rs38176231,2
C,F32281774(+) AGGGGG/TAACTT 1 -- ng51 trp3""5Minor allele frequency- T:0.03EA NS 1918""
--
rs754481481,2
C,F32280251(+) GGAGCC/TTCCCA 1 -- ng51""2Minor allele frequency- T:0.09EA WA 138""
--
rs757145551,2
F32280356(+) TTCCTC/TGACAA 1 -- ng51""1Minor allele frequency- T:0.06WA 50""
""
rs72514321,2
C,F,A,H35775441(+) catccA/Gggcag 1 -- int1""24Minor allele frequency- G:0.37NS EA WA NA MN 2665""
--
rs116700191,2
C,F,H32283024(+) ctcagC/Tgtccc 1 -- int1""1Minor allele frequency- T:0.50NA 4""
--
rs558630371,2
C,F35775395(+) TTGAGG/AGGCAA 1 -- int1""8Minor allele frequency- A:0.19MN NA EA WA 618""
About this table

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

(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.)
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"" 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 juvenile
  • hemochromatosis (JH). HFE2B is an early-onset autosomal recessive disorder due to severe iron overload resulting in
    hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of
    30. 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)

    (Possibly Related Articles in Doctor's Guide)
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    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    10/373 PubMed articles for HAMP gene (see all 373 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57817 HGNC: 15598 AceView: HAMP Ensembl:ENSG00000105697 euGenes: HUgn57817
    ECgene: HAMP H-InvDB: HAMP
    (According to HUGE)
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      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HAMP
    Wikipedia http://en.wikipedia.org/wiki/Hepcidin
    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    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


    (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)
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    ""
    ""
    Products for HAMP:
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    "" Western blot validated antibodies
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    "" Custom immunoassay development
    "" Search Tocris compounds for HAMP
    "" Regulatory tfbs in HAMP upstream (promoter) region
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    "" RT2 qPCR Primer Assay for HAMP
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    GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

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    acyl-CoA synthetase family member 3
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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