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HP Gene

protein-coding   GIFtS: 64
GCID: GC16P072089

Haptoglobin

  See HP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
haptoglobin1 2     Haptoglobin Alpha(2FS)-Beta2
BP2     Haptoglobin, Alpha Polypeptide2
HP2ALPHA22     Haptoglobin, Beta Polypeptide2
HPA1S2     zonulin2
Binding Peptide2     Zonulin3
Haptoglobin Alpha(1S)-Beta2     

External Ids:    HGNC: 51411   Entrez Gene: 32402   Ensembl: ENSG000002570177   OMIM: 1401005   UniProtKB: P007383   

Export aliases for HP gene to outside databases

Previous GC identifers: GC16P062982 GC16P072811 GC16P071824 GC16P071864 GC16P070646 GC16P057856


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HP Gene:
This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently
combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows
degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the
kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory
regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy,
the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior,
primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of
Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for HP Gene:
HP (haptoglobin) is a protein-coding gene. Diseases associated with HP include mastitis, and diabetic nephropathy. GO annotations related to this gene include hemoglobin binding and antioxidant activity. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738
Function: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine.
Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to
prevent kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and
plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are
rapidely cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells
through an endocytic lysosomal degradation pathway
Function: Uncleaved haptoglogin, also known as zonulin, plays a role in intestinal permeability, allowing
intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to
non-self antigens

Gene Wiki entry for HP (User talk:I9606/phosphotest) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HP gene promoter:
         CREB   SRY   AP-1   deltaCREB   ATF-2   c-Jun   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHP promoter sequence
   Search Chromatin IP Primers for HP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.2   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.2

HP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HP gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P072089:  view genomic region     (about GC identifiers)

Start:
72,088,491 bp from pter      End:
72,094,955 bp from pter
Size:
6,465 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HPT_HUMAN, P00738 (See protein sequence)
Recommended Name: Haptoglobin precursor  
Size: 406 amino acids; 45205 Da
Subunit: Tetramer of two alpha and two beta chains; disufide-linked. The Hemoglobin/haptoglobin complex is
composed of a haptoglobin dimer bound to two hemoglobin alpha-beta dimers. Interacts with CD163
Caution: Although homologous to serine proteases, it has lost all essential catalytic residues and has no
enzymatic activity
Secondary accessions: B0AZL5 P00737 Q0VAC4 Q0VAC5 Q2PP15 Q3B7J0 Q6LBY9 Q9UC67

Explore the universe of human proteins at neXtProt for HP: NX_P00738

Explore proteomics data for HP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn184, Asn207, Asn211, Asn241
  • Modification sites at PhosphoSitePlus

  • See HP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001119574.1  NP_005134.1  

    ENSEMBL proteins: 
     ENSP00000457629   ENSP00000348170   ENSP00000463755   ENSP00000456503   ENSP00000350406  
     ENSP00000454413   ENSP00000454966   ENSP00000462662   ENSP00000461999   ENSP00000464070  
     ENSP00000463491   ENSP00000381199  
    Reactome Protein details: P00738

    HP Human Recombinant Protein Products:

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    Novus Biologicals HP Protein
    Novus Biologicals HP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HP
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HP 

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    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for HP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR000436 Sushi_SCR_CCP
     IPR001254 Peptidase_S1
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P00738

    ProtoNet protein and cluster: P00738

    3 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: HPT_HUMAN, P00738
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains


    Find genes that share domains with HP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPT_HUMAN, P00738
    Function: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine.
    Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to
    prevent kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and
    plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are
    rapidely cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells
    through an endocytic lysosomal degradation pathway
    Function: Uncleaved haptoglogin, also known as zonulin, plays a role in intestinal permeability, allowing
    intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to
    non-self antigens

         Genatlas biochemistry entry for HP:
    haptoglobin,expressed in liver

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
    GO:0004252serine-type endopeptidase activity ----
    GO:0005515protein binding IPI19758344
    GO:0016209antioxidant activity IEA--
    GO:0030492hemoglobin binding IDA19740759
         
    Find genes that share ontologies with HP           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hp):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  renal/urinary system  tumorigenesis 

    Find genes that share phenotypes with HP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hptm1Skl for HP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HP

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    GenScript: all cDNA clones in your preferred vector (see all 3): HP (NM_013406)
    Sino Biological Human cDNA Clone for HP
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HPT_HUMAN, P00738: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA19433579
    GO:0031838haptoglobin-hemoglobin complex IDA19740759
    GO:0070062extracellular vesicular exosome IDA19056867
    GO:0071682endocytic vesicle lumen TAS--

    Find genes that share ontologies with HP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HP About    
    See pathways by source

    SuperPathContained pathways About
    1Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging of Heme from Plasma0.53
    2amb2 Integrin signaling
    amb2 Integrin signaling


    Find genes that share SuperPaths with HP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HP
        amb2 Integrin signaling


    1 Reactome Pathway for HP
        Scavenging of heme from plasma


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HP
    Interactions:

        GeneGlobe Interaction Network for HP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HP (P007381, 2, 3 ENSP000003481704) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOEP026491, 2, 3, ENSP000002524864EBI-1220767,EBI-1222467 MINT-7258801 MINT-7258760 MINT-7258778 MINT-7258819 MINT-7258848 MINT-7258877 MINT-7258791 I2D: score=2 STRING: ENSP00000252486
    APOA1P026471, 2, 3, ENSP000002368504EBI-1220767,EBI-701692 MINT-7258829 MINT-7258811 MINT-7258868 I2D: score=2 STRING: ENSP00000236850
    ADAMTS4O751733, ENSP000003569754I2D: score=2 STRING: ENSP00000356975
    MIS12Q9H0813, ENSP000003705574I2D: score=2 STRING: ENSP00000370557
    RBBP6Q7Z6E93, ENSP000003178724I2D: score=2 STRING: ENSP00000317872
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002376immune system process IEA--
    GO:0006508proteolysis ----
    GO:0006879cellular iron ion homeostasis ----
    GO:0006952defense response TAS7036344
    GO:0006953acute-phase response IEA--

    Find genes that share ontologies with HP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HP (HPT)

    1 HMDB Compound for HP    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    Selected Novoseek inferred chemical compound relationships for HP gene (see all 104)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 76.2 248 9061799 (5), 12669191 (5), 7586584 (4), 11761799 (4) (see all 99)
    alpha 2 macroglobulin 63.7 2 16061437 (1), 17096854 (1)
    iron 59.1 161 12392310 (6), 18771759 (6), 16256097 (5), 16637741 (5) (see all 73)
    polyacrylamide 52.5 39 15167774 (2), 7663994 (2), 19259359 (1), 15588436 (1) (see all 30)
    urobilinogen 47.8 2 1487178 (1), 1810610 (1)
    sialic acid 45.3 37 1376373 (3), 1382109 (3), 1479646 (2), 17970534 (2) (see all 17)
    lactate 44.9 53 9415351 (2), 10703667 (1), 19809007 (1), 2170094 (1) (see all 49)
    cholesterol 41 65 8872771 (5), 1424232 (4), 7831994 (3), 17369214 (2) (see all 40)
    gp 130 39.8 6 18636446 (1), 8662918 (1), 9466305 (1), 10406952 (1) (see all 5)
    benzidine 36 4 19259359 (1), 10762581 (1), 9861405 (1)



    Find genes that share compounds with HP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HP gene (2 alternative transcripts): 
    NM_001126102.1  NM_005143.3  

    Unigene Cluster for HP:

    Haptoglobin
    Hs.513711  [show with all ESTs]
    Unigene Representative Sequence: NM_005143
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570083(uc010cgm.3) ENST00000355906(uc002fbr.4 uc002fbt.4)
    ENST00000565807 ENST00000562488 ENST00000569639 ENST00000564499 ENST00000357763
    ENST00000566821 ENST00000562526 ENST00000565574 ENST00000568417 ENST00000561927
    ENST00000576168 ENST00000567185 ENST00000567612 ENST00000398131(uc021tld.1)

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      QuantiFast Probe-based Assays in human, mouse, rat HP

    Additional mRNA sequence: 

    AK314700.1 BC017862.1 BC058031.1 BC107587.1 BC121124.1 BC121125.1 K00422.1 K01763.1 
    L29394.1 X00637.1 

    Selected DOTS entries (see all 32):

    DT.100891457  DT.87078343  DT.92457468  DT.91917890  DT.92457420  DT.100891439  DT.92326983  DT.100891426 
    DT.101986397  DT.100891447  DT.100891427  DT.120676218  DT.420546  DT.95126987  DT.100891448  DT.92457400 
    DT.120676226  DT.92457428  DT.100039547  DT.100039552  DT.100891421  DT.100891438  DT.100891449  DT.120676090 

    Selected AceView cDNA sequences (see all 1046):

    CB124877 CB154363 CR597047 CB147189 CB135247 CB117070 CB124812 CB147391 
    CR593594 CB138235 CB154205 CB134877 CR611613 CB141215 CB111948 CB124870 
    CR601602 CB130061 BM768636 CB111976 CB130093 AV652245 CB153822 CB124823 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTAAGTACC
    HP Expression
    About this image


    HP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Periosteum
     
     Kidney (Urinary System)
             S-shaped Body
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    HP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513711

    UniProtKB/Swiss-Prot: HPT_HUMAN, P00738
    Tissue specificity: Expressed by the liver and secreted in plasma

        Custom PCR Arrays for HP
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HP gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hp1 , 5 haptoglobin1, 5 79.35(n)1
    79.83(a)1
      8 (57.11 cM)5
    154391  NM_017370.21  NP_059066.11 
     1095751305 
    zebrafish
    (Danio rerio)
    Actinopterygii hp6
    haptoglobin
    29(a)
    1 → many
    7(57840785-57847584) ENSDARG00000051890


    ENSEMBL Gene Tree for HP (if available)
    TreeFam Gene Tree for HP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HP gene
    PROZ2  C1S2  C1R2  C1RL2  F92  F102  MASP12  F22  
    HPR2  PROC2  F72  MASP22  
    Selected SIMAP similar genes for HP using alignment to 12 protein entries:     HPT_HUMAN (see all proteins) (see all similar genes):
    HPR    TMPRSS11F    TMPRSS11A    F2    TMPRSS11B    F11
    HPN    PRSS21    TMPRSS15    TMPRSS7    KLKB1    TMPRSS11D
    F7    DKFZp586F0824    TMPRSS4    serase-1B    TMPRSS13    TMPRSS5

    Find genes that share paralogs with HP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    HPT_HUMAN, P00738: In the human populations there are two major allelic forms, alpha-1 (1-1) with 83 residues and
    alpha-2 (2-2) with 142 residues. These alleles determine 3 possible genotypes, homozygous (1-1 or 2-2) and
    heterozygous (2-1), and 3 major phenotypes HP*1F/HP*1S and HP*2FS. The two main alleles of HP*1 are called HP*1F
    (fast) and HP*1S (slow). The alleles exhibit different oligomerization properties. In healthy males, but not in
    females, the Hp 2-2 phenotype is associated with higher serum iron, decreased Antimicrobial; Antioxidant
    capability, and less efficient clearance from the circulation, than Hp 1-1 and 2-1


    Selected SNPs for HP (see all 250)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945171,2,,4
    CAnhaptoglobinemia (AHP)4 other172094308(+) AGATAC/TTGGGC 4 T I mis10--------
    rs360714241,2
    C--72086583(+) TTTTTT/-GACGA 2 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1449496111,2
    C--72092390(+) ATAAGC/GGTTTT 2 -- int10--------
    rs561391301,2
    C--72092509(+) AGTCAC/GATTTA 2 -- int10--------
    rs8094031,2
    C--72092880(-) gagagT/Aatatg 2 -- int12Minor allele frequency- A:0.00NA 4
    rs8132071,2
    C--72092938(-) TTTAaA/Ggagaa 2 -- int11Minor allele frequency- G:0.00NA 2
    rs1475926621,2
    --72092966(+) CGGGGA/TCTAGA 2 -- int10--------
    rs1421393351,2
    --72092967(+) GGGGTA/CTAGAC 2 -- int10--------
    rs341027231,2
    C--72092993(+) GCTCAC/TTTCTT 2 -- int12Minor allele frequency- T:0.00NA 4
    rs116489891,2
    H--72093000(+) TCTTGC/TCTTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for HP (72088491 - 72094955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HP (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2478287CNV Deletion19546169
    esv2215660CNV Deletion18987734
    dgv504e199CNV Deletion23128226
    esv2714685CNV Deletion23290073
    esv2714683CNV Deletion23290073
    esv2422047CNV Duplication20811451
    nsv817737CNV Loss17921354
    nsv827729CNV Loss20364138
    nsv833273CNV Loss17160897
    dgv2909n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): HP
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HP
    DNA2.0 Custom Variant and Variant Library Synthesis for HP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 140100   
    OMIM disorders: 614081  
    UniProtKB/Swiss-Prot: HPT_HUMAN, P00738
  • Anhaptoglobinemia (AHP) [MIM:614081]: A condition characterized by the absence of the serum glycoprotein
    haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in
    the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary
    hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin.
    Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for HP (see all 37):    
    About MalaCards
    mastitis    diabetic nephropathy    hemoglobinemia    autoimmune hemolytic anemia
    anhaptoglobinemia    acute kidney failure    plasmodium falciparum malaria    paroxysmal cold hemoglobinuria
    sclerosing cholangitis    cholangitis    evans' syndrome    scurvy
    heme oxygenase-1 deficiency    favism    pulmonary tuberculosis    hemoglobinuria
    hellp syndrome    blackwater fever    bronchopneumonia    cluster headache

    15 diseases from the University of Copenhagen DISEASES database for HP:
    Anemia     Autoimmune hemolytic anemia     Mastitis     Vascular disease
    Malaria     Cancer     Kidney disease     Thrombocytopenia
    Liver disease     Glucosephosphate dehydrogenase deficiency     Arthritis     Tuberculosis
    Heart disease     Endometritis     Diabetes mellitus

    Find genes that share disorders with HP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HP gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemolysis intravascular 84.5 25 8497113 (2), 7997790 (2), 11580905 (2), 7865954 (1) (see all 18)
    response acute phase 84 38 9056748 (2), 11176144 (1), 14668016 (1), 1725175 (1) (see all 32)
    hemolysis 83.2 117 16506966 (5), 11588465 (4), 2255063 (2), 15563430 (2) (see all 92)
    anemia hemolytic 70.2 16 17974404 (2), 7955584 (1), 1795445 (1), 1726769 (1) (see all 15)
    hemoglobinemia 62.6 1 11788929 (1)
    inflammation 61.6 82 12669191 (6), 9352226 (2), 19440331 (2), 1693992 (1) (see all 59)
    hemoglobinuria 61.4 7 8136596 (2), 2255063 (1), 8163802 (1), 11340138 (1) (see all 6)
    autoimmune hemolytic anemia 56.3 1 20376581 (1)
    anemia hemolytic microangiopathic 55.4 2 15813170 (1), 11431643 (1)
    hellp syndrome 54.5 12 10476616 (2), 8963883 (1), 11709744 (1), 8841812 (1) (see all 10)

    Genatlas disease: HP
    haptoglobinemia,Hp0 phenotype (HP deletion)

    Genetic Association Database (GAD): HP
    Human Genome Epidemiology (HuGE) Navigator: HP (551 documents)

    Export disorders for HP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HP gene, integrated from 10 sources (see all 1371):
    (articles sorted by number of sources associating them with HP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of haptoglobin in polycystic ovary syndrome (PCOS), obesity and disorders of glucose tolerance in premenopausal women. (PubMed id 19440331)1, 4, 9 Alvarez-Blasco F....Escobar-Morreale H.F. (PLoS ONE 2009)
    2. The prognostic utility of haptoglobin genotypes in squamous cell carcinoma of the head and neck. (PubMed id 19743954)1, 4, 9 Lee C.C....Su Y.C. (Clin. Chem. Lab. Med. 2009)
    3. Detection of Hpdel among Thais, a deleted allele of the haptoglobin gene that causes congenital haptoglobin deficiency. (PubMed id 17764509)1, 4, 9 Shimada E....Tadokoro K. (Transfusion 2007)
    4. Haplotype association between haptoglobin (Hp2) and Hp promoter SNP (A-61C) may explain previous controversy of haptoglobin and malaria protection. (PubMed id 17426810)1, 4, 9 Cox S.E....Prentice A.M. (PLoS ONE 2007)
    5. Association of haptoglobin levels with age, parasite density, and haptoglobin genotype in a malaria-endemic area of Gabon. (PubMed id 16407342)1, 4, 9 Fowkes F.J....Day K.P. (Am. J. Trop. Med. Hyg. 2006)
    6. Polymorphism of haptoglobin in patients with premature rupture of membrane. (PubMed id 19259359)1, 4, 9 Cho J.K....Kim I.S. (Yonsei Med. J. 2009)
    7. Sex steroid hormones influence the risk for cervical cancer: modulation by haptoglobin genetic polymorphism. (PubMed id 19446743)1, 4, 9 Bicho M.C....Bicho M.D. (Cancer Genet. Cytogenet. 2009)
    8. Seasonal childhood anaemia in West Africa is associated with the haptoglobin 2-2 genotype. (PubMed id 16637741)1, 4, 9 Atkinson S.H....Prentice A.M. (PLoS Med. 2006)
    9. Limited influence of haptoglobin genotypes on severe malaria in Ghanaian children. (PubMed id 15960705)1, 4, 9 Bienzle U....Mockenhaupt F.P. (amp 2005)
    10. The relationship between haptoglobin polymorphism and serum ceruloplasmin ferroxidase activity. (PubMed id 15103512)1, 4, 9 Janaydeh M....Awadallah S. (Clin. Exp. Med. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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: 3240 HGNC: 5141 AceView: HPandHPR Ensembl:ENSG00000257017 euGenes: HUgn3240
    ECgene: HP H-InvDB: HP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HP[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HP
    Wikipedia http://en.wikipedia.org/wiki/Haptoglobin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HP gene:
    Search GeneIP for patents involving HP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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