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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HBZ Gene

protein-coding   GIFtS: 54
GCID: GC16P000202

hemoglobin, zeta

 Explore 12 diseases affiliated with
HBZ via our new
 Human Malady Compendium 
Biological research products
for HBZ
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hemoglobin, Zeta1 2     Zeta-Globin1
Hemoglobin Zeta Chain2 3     HBZ23
HBAZ2 3     Zeta-Globin1
Hemoglobin Subunit Zeta2     

External Ids:    HGNC: 48351   Entrez Gene: 30502   Ensembl: ENSG000001306567   OMIM: 1423105   UniProtKB: P020083   

Export aliases for HBZ gene to outside databases

Previous GC identifers: GC16P000221 GC16P000142 GC16P000120


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HBZ:
Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early
embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human
alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta -
pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. (provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: HBAZ_HUMAN, P02008
Function: The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin, synthesized primarily in the yolk
sac

Gene Wiki entry for HBZ


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HBZ gene promoter:
         CREB   Sp1   AP-1   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBZ promoter sequence
   Search SABiosciences Chromatin IP Primers for HBZ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBZ


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000202:  view genomic region     (about GC identifiers)

Start:
202,686 bp from pter      End:
204,504 bp from pter
Size:
1,819 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HBAZ_HUMAN, P02008 (See protein sequence)
Recommended Name: Hemoglobin subunit zeta  
Size: 142 amino acids; 15637 Da
Subunit: Heterotetramer of two zeta chains and two epsilon chains in early embryonic hemoglobin Gower-1; two zeta
chains and two gamma chains in hemoglobin Portland-1
2 PDB 3D structures from and Proteopedia for HBZ:
1JEB (3D)        3W4U (3D)    
Secondary accessions: Q6IBF6

Explore the universe of human proteins at neXtProt for HBZ: NX_P02008

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02008

  • HBZ Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005323.1  
    ENSEMBL proteins: 
     ENSP00000252951  

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    Novus Biologicals HBZ Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HBZ
    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005833hemoglobin complex IEA--


    HBZ for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HBZ for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR012292 Globin_dom
     IPR002338 Haemoglobin_a
     IPR009050 Globin-like
     IPR002340 Haemoglobin_zeta
     IPR000971 Globin

    Graphical View of Domain Structure for InterPro Entry P02008

    ProtoNet protein and cluster: P02008

    3 Blocks protein families:
    IPB002338 Alpha haemoglobin signature
    IPB002339 Pi haemoglobin signature
    IPB002340 Zeta haemoglobin signature


    UniProtKB/Swiss-Prot: HBAZ_HUMAN, P02008
    Similarity: Belongs to the globin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HBAZ_HUMAN, P02008
    Function: The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin, synthesized primarily in the yolk
    sac

         Genatlas biochemistry entry for HBZ:
    hemoglobin,zeta,embryonic

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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBZ

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005344oxygen transporter activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0019825oxygen binding IEA--
    GO:0020037heme binding IEA--


    HBZ for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Hba-xHba-tm1Led for HBZ
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hba-x):
     growth/size  hematopoietic system  mortality/aging  reproductive system 

    HBZ for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HBZ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/18 Interacting proteins for HBZ (P020082, 3 ENSP000002529514) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JUNDP175353, ENSP000002528184I2D: score=1 STRING: ENSP00000252818
    HBBP688713, ENSP000003339944I2D: score=2 STRING: ENSP00000333994
    SP1P080473, ENSP000003293574I2D: score=1 STRING: ENSP00000329357
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
    FGFR3P226073I2D: score=4 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0015671oxygen transport ----
    GO:0043249erythrocyte maturation IEA--


    HBZ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HBZ for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HBZ

    1 HMDB Compound for HBZ    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    1 Novoseek chemical compound relationship for HBZ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 5.21 1 8508028 (1)

    Search CenterWatch for drugs/clinical trials and news about HBZ / HBAZ 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HBZ gene: 
    NM_005332.2  

    Unigene Cluster for HBZ:

    Hemoglobin, zeta
    Hs.585357  [show with all ESTs]
    Unigene Representative Sequence: BI833939
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000252951(uc002cft.1)

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    Additional cDNA sequence: 

    BC027892.1 CR456848.1 M24173.1 

    2 DOTS entries:

    DT.446568  DT.97797418 

    24/53 AceView cDNA sequences (see all 53):

    R92459 BC027892 NM_005332 M24173 H94426 R89375 AI660353 CR456848 
    AJ710994 BX102376 BP432876 T84332 H58334 BI835730 R98069 H58398 
    BI835106 H71198 H58723 H94946 BI833939 N78189 H53862 H58399 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HBZ    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
    SP1:                          -     -                     
    SP2:                                                      
    SP3:                                                      
    SP4:        -     -                                       
    SP5:              -     -     -     -                     


    ECgene alternative splicing isoforms for HBZ

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HBZ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGGCCAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    HBZ expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    LimbZeugopodPrechondrocytic Mesenchymal CellsBone, Cartilage
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HBZ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HBZ

    SOURCE GeneReport for Unigene cluster: Hs.585357

    UniProtKB/Swiss-Prot: HBAZ_HUMAN, P02008
    Tissue specificity: Red blood cells

        SABiosciences Expression via Pathway-Focused PCR Array including HBZ: 
              Embryonic Stem Cells in human mouse rat

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBZ

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HBZ gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008580801 hemoglobin subunit pi-like 69.72(n)
    71.13(a)
      100858080  XM_003643193.1  XP_003643241.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia X02796.12   -- 71.27(n)    X02796.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY325264.12   -- 76.13(n)   30597  AY325264.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HBZ gene
    HBG22  HBE12  CYGB2  HBD2  HBG12  HBA22  HBB2  HBQ12  
    HBA12  HBM2  
    11 SIMAP similar genes for HBZ using alignment to 2 protein entries:     HBAZ_HUMAN (see all proteins):
    HBA2    HBA1    HBQ1    HBG1    HBM    HBG2
    HBE1    HBD    HBB    CYGB    MB

    HBZ for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HBZ
    PGOHUM00000248958


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/82 NCBI SNPs in HBZ are shown (see all 82    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428750311,2
    --200913(+) AAGGAC/TAGACA 1 -- us2k10--------
    rs1511871921,2
    --200964(+) CTATGC/TCCCAT 1 -- us2k10--------
    rs1868604851,2
    --200999(+) AAGCCA/TACTGA 1 -- us2k10--------
    rs1916519041,2
    --201002(+) CCAACC/TGAATA 1 -- us2k10--------
    rs28589181,2
    C,F,H,--201183(+) GAAAAC/TATAGG 1 -- us2k111Minor allele frequency- T:0.21WA NA CSA EA 374
    rs601770501,2
    C,--201287(+) TAAAAC/GTTTTG 1 -- us2k12Minor allele frequency- G:0.02WA 120
    rs1833142751,2
    --201326(+) AACTAA/CCAAGC 1 -- us2k10--------
    rs66001431,2
    C,F,A,H,--201389(+) CCAGAA/CGATAC 1 -- us2k134Minor allele frequency- C:0.21NS EA NA WA CSA 2959
    rs1865225631,2
    --201413(+) AATTCA/GTCCTT 1 -- us2k10--------
    rs1403232271,2
    --201490(+) TCCTAA/GCACTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HBZ (202686 - 204504 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HBZ
         1 CNV: 5329

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    (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.)
    About This Section

    HBZ for disorders           About GeneDecksing

    OMIM gene information: 142310    OMIM disorders: --

    12 diseases for HBZ:    About MalaCards
    alpha thalassemia    spinal cord disease    tropical spastic paraparesis    spastic paraparesis
    hydrops fetalis    thalassemia    adult t-cell leukemia    spasticity
    diabetes mellitus    t-cell leukemia    rabies    leukemia

    4 diseases from the University of Copenhagen DISEASES database for HBZ:
    Adult T-cell leukemia     Thalassemia     Tropical spastic paraparesis     Spinal cord disease

    2 Novoseek disease relationships for HBZ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-thalassemia 83.1 8 9544971 (2), 18208812 (1), 1329692 (1), 1975558 (1) (see all 6)
    erythroleukemia 52.6 4 7727787 (1), 9642099 (1)

    GeneTests: HBZ
    Alpha-Thalassemia


    Export disorders for HBZ 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)
    About This Section

    PubMed articles for HBZ gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with HBZ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The role of beta chains in the control of the hemoglobin oxygen binding function: chimeric human/mouse proteins, structure, and function. (PubMed id 11747442)1, 2 Kidd R.D....Brittain T. (2001)
    3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    4. The relationship between chromosome structure and function at a human telomeric region. (PubMed id 9054936)1, 2 Flint J.... Higgs D.R. (1997)
    5. A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)1, 3 Higgs D.R....Weatherall D.J. (1989)
    6. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. (PubMed id 6297773)1, 2 Proudfoot N.J.... Maniatis T. (1982)
    7. Cloning and nucleotide sequence analysis of human embryonic zeta- globin cDNA. (PubMed id 6963223)1, 2 Cohen-Solal M.... Forget B.G. (1982)
    8. Human embryonic haemoglobins. Ac-Ser-Leu-Thr-is the N-terminal sequence of the zeta-chains. (PubMed id 6172357)1, 2 Aschauer H.... Braunitzer G. (1981)
    9. Human embryonic haemoglobins. The primary structure of the zeta chains. (PubMed id 6179844)1, 2 Aschauer H.... Braunitzer G. (1981)
    10. Structure of the zeta chain of human embryonic hemoglobin. (PubMed id 6171809)1, 2 Clegg J.B. and Gagnon J. (1981)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3050 HGNC: 4835 AceView: HBZ Ensembl:ENSG00000130656 euGenes: HUgn3050
    ECgene: HBZ H-InvDB: HBZ

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HBZ Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBZ

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

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



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