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HBZ Gene

protein-coding   GIFtS: 57

GC16P000142
hemoglobin, zeta
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
HBAZ 3
HBZ2 3
Zeta-globin 3
Descriptions
Hemoglobin zeta chain 3
hemoglobin, zeta 2
External Ids
HGNC: 48351
Entrez Gene: 30502
UniProtKB: P020083
Ensembl: ENSG000001306567
Search outside databases for aliases for HBZ gene

Previous GC identifer: GC16P000221

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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 like. 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HBZ gene  

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)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000142:     (about GC identifiers)

Start:
142,854 bp from pter
End:
144,504 bp from pter
Size:
1,651 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000016.8  NT_037887.4  
(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 Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
PDB structures from and Proteopedia :
1JEB (3D)    

REFSEQ proteins: NP_005323.1  

ENSEMBL proteins: 
ENSP00000252951 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Sigma-Aldrich Proteins for HBZ  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HBZ)
Human Recombinant Proteins from Abnova (HBZ)
              OriGene Purified Recombinant Human Protein: HBZ 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005833 hemoglobin complex TAS7555018
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Antibodies for HBZ: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for HBZ
Browse R&D Systems for Antibodies
Antibodies from Abcam (HBZ), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HBZ)
Novus Biologicals Antibodies for HBZ

Assays for HBZ: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

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

3 InterPro domains/families:
 IPR002338 Haemoglobin_a
 IPR002340 Haemoglobin_zeta
 IPR000971 Globin_subset


   GeneDecks  HBZ for the domains selected above  
About GeneDecksing

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HBZ)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HBZ)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005332

              Applied Biosystems Silencer® siRNAs for HBZ

              Sigma-Aldrich siRNA for HBZ  
                     Sigma-Aldrich shRNA for HBZ  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for HBZ
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005332
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005332
                                 untagged cDNA clone in CMV expression vector: NM_005332 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005332

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

4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hba-x):

growth/sizehematopoietic systemlethality-prenatal/perinatalreproductive system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005344 oxygen transporter activity TAS7555018
GO:0019825 oxygen binding IEA--
GO:0020037 heme binding IEA--
GO:0046872 metal ion binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
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 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  HBZ 


5/16 Interacting proteins for HBZ (ENSP000002529513 P020082) via UniProtKB, MINT, and/or STRING (see all 16 )
InteractantInteraction Details
GeneCardExternal ID(s)
NGBENSP000002983523STRING (score=.958)
ERAFENSP000003071993STRING (score=.943)
JUNDENSP000002528183STRING (score=.937)
HBG1ENSP000003696063STRING (score=.91)
HBQ1ENSP000001997083STRING (score=.904)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IEA--
GO:0015671 oxygen transport IEA--
About this table
(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

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

Browse Tocris compounds for HBZ
1 Novoseek chemical compound relationship for HBZ gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
oligonucleotide 6.71 1 8508028 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HBZ)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HBZ)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005332

              Sigma-Aldrich siRNA for HBZ  
                     Sigma-Aldrich shRNA for HBZ  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005332  

REFSEQ mRNAs for HBZ gene: 

NM_005332.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005332  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005332
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005332
                                 untagged cDNA clone in CMV expression vector: NM_005332 

Additional cDNA sequence: 

BC027892.1 CR456848.1 M24173.1 

2 DOTS entries:

DT.446568  DT.97797418 

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

BC027892 H94426 M24173 R92459 NM_005332 AI660353 R89375 T84332 
CR456848 BP432876 BX102376 AJ710994 H58723 BI835106 H94946 BI835730 
H71198 H58398 H58334 R98069 H53862 H49707 R98313 BI833939 

highest scoring ESTs for HBZ:

AA758611 AI033004 AI660353 AJ710994 BC027892 BI833939 BI835730 BX102376 CR456848 H53862 

Unigene Cluster for HBZ:

Hemoglobin, zeta
Hs.585357  [show with all ESTs]
Unigene Representative Sequence: BI833939


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for HBZ

1 Ensembl transcript including schematic representation:
ENST00000252951  
(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 219 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 )
About This Section

HBZ expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for HBZ

1 / 2 / 3

3 probe-sets matching HBZ gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
37217_at2, 3 U95-A 3 0.94 0.69 1.00 1.00 AI208485 0.20 0.33 0.27 1

206647_at2, 3 U133-A 2 1.00 0.68 -- -- NM_005332 0.60 1.00 0.82 1

206647_at2 U133Plus2 2 1.00 0.68 -- -- -- -- -- -- --
GeneDecks  HBZ for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TGGGCCAAGA

SOURCE GeneReport for Unigene cluster: Hs.585357

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for HBZ gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
HBZ1   -- hemoglobin, zeta 98.12(n)
95.77(a)
744545  XM_001151282.1  XP_001151282.1 
cow
(Bos taurus)
HBZ1   -- hemoglobin, zeta 88.26(n)
84.51(a)
504564  XM_580707.3  XP_580707.2 
mouse
(Mus musculus)
Hba-x1, 5 11 (16.00 cM)5
hemoglobin X, alpha-like embryonic chain in Hba complex1, 5 82.16(n)1
78.17(a)1
151261  NM_010405.31  NP_034535.11 
 AF0789055  AI4500155  (see all 16)
chicken
(Gallus gallus)
HBZ1   -- hemoglobin, zeta 69.72(n)
71.13(a)
416650  NM_001004374.1  NP_001004374.1 
zebrafish
(Danio rerio)
AY325264.12   --   -- 76.13(n) 30597  AY325264.1 
About this table        Species with no ortholog for HBZ

ENSEMBL Gene Tree for HBZ
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for HBZ gene
HBQ12  HBA12  HBM2  HBZP2  HBA22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/40 NCBI SNPs in HBZ are shown (see all 40 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 15)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 16 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs66001431,2
A,C,F,H141389(+) ccagaA/Cgatac 1 -- ng5112Minor allele frequency- C:0.22EU EA WA 1258
--
rs29090271,2
A,C141838(-) ctcctG/Tacctt 1 -- ng51 tfbs30--------
--
rs29747601,2
A,C142049(+) ttagcA/Cagaga 1 -- ng510--------
--
rs28589181,2
C141183(+) gaaaaC/Tatagg 1 -- ng510--------
--
rs26851291,2
H142927(-) CCTCTC/AAGTCT 1 X/E non1 ese34Minor allele frequency- A:0.00EU EA WA 406
--
rs354339391,2
--142032(+) CTATGA/CAAATA 1 -- ng510--------
--
rs713767001,2
--141168(+) TATACA/CACTTT 1 -- ng510--------
--
rs601770501,2
--141287(+) TAAAAC/GTTTTG 1 -- ng510--------
--
rs356546471,2
--141702(+) CACTGC/TGCTCC 1 -- ng510--------
--
rs350979501,2
--141946(+) ATCCC-/CAGCAC 1 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for HBZ (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 142310

2 Novoseek disease relationships for HBZ gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
alpha-thalassemia 83.98 8 9544971 (2), 18208812 (1), 1329692 (1), 1975558 (1) (see all 6)
erythroleukemia 53.51 4 7727787 (1), 9642099 (1)
About this table

GeneTests: HBZ
Alpha-Thalassemia

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(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

10/61 PubMed articles for HBZ gene (see all 61 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

NameDescription
GeneReviewshttp://www.genetests.org/query?gene=HBZ
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for HBZ:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for HBZ-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for HBZ Antibodies for HBZ
 Explore super-pooled esiRNAs Proteins for HBZ
 Lentivirus-delivered shRNAs for HBZ Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
 Antibodies   Primer Pairs  
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 Recombinant & Natural Proteins  

 Recombinant Proteins (HBZ)
 Antibodies (HBZ)
 Chimera RNAi (HBZ)
 Custom Service for Mouse Mab
 Custom Service for Rabbit Pab from Full-length Protein
  
 Search for Antibodies & Assays

 Recombinant Proteins
(HBZ)
 Antibodies (HBZ)
 Tagged/untagged cDNA clones
 Validated SYBR primer pairs
 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for HBZ




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for HBZ

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