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Aliases for HBZ Gene

Aliases for HBZ Gene

  • Hemoglobin Subunit Zeta 2 3 5
  • Hemoglobin Zeta Chain 3 4
  • Hemoglobin, Zeta 2 3
  • Zeta-Globin 3 4
  • HBAZ 3 4
  • HBZ-T1 3
  • HBZ1 3
  • HBZ2 4

External Ids for HBZ Gene

Previous GeneCards Identifiers for HBZ Gene

  • GC16P000221
  • GC16P000202
  • GC16P000120

Summaries for HBZ Gene

Entrez Gene Summary for HBZ Gene

  • 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]

GeneCards Summary for HBZ Gene

HBZ (Hemoglobin Subunit Zeta) is a Protein Coding gene. Diseases associated with HBZ include Thalassemias, Alpha- and Thalassemia. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

UniProtKB/Swiss-Prot for HBZ Gene

  • The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin.

Gene Wiki entry for HBZ Gene

Additional gene information for HBZ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBZ Gene

Genomics for HBZ Gene

Regulatory Elements for HBZ Gene

Enhancers for HBZ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H000175 0.9 Ensembl 27.9 +35.0 34988 3.1 HDGF PKNOX1 RB1 KLF17 NFXL1 TCF12 EGR1 EGR2 SMARCA5 SP3 HBZ HBM FAM234A HBA1 GC16P000193
GH16H000152 0.7 dbSUPER 35.3 +11.0 11006 2 HDAC1 ZNF362 TAL1 NR4A1 CEBPB EBF1 ZBTB40 ZNF592 MTA3 POLR2A HBZ GC16M000144 HBM
GH16H000066 1.8 FANTOM5 ENCODE dbSUPER 11.5 -68.6 -68552 13.6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 WASH4P WDR90 RHOT2 ENSG00000268836 LUC7L CHTF18 NPRL3 WDR24 RHBDF1 CAPN15
GH16H000180 1.4 Ensembl ENCODE 13.1 +39.0 39046 1.9 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF207 DEK WDR90 WDR24 RHOT2 ENSG00000268836 WASH4P LUC7L ENSG00000269482 CHTF18 JMJD8 LMF1
GH16H000113 1.3 ENCODE dbSUPER 12.8 -28.4 -28412 2.4 HNRNPUL1 HDGF PKNOX1 ARNT ZNF766 FOS REST SMARCB1 ZNF592 MEF2D NPRL3 AXIN1 HBZ HBM JMJD8 WFIKKN1 GC16P000124 ENSG00000228779
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HBZ on UCSC Golden Path with GeneCards custom track

Genomic Locations for HBZ Gene

Genomic Locations for HBZ Gene
12,453 bases
Plus strand

Genomic View for HBZ Gene

Genes around HBZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBZ Gene

Proteins for HBZ Gene

  • Protein details for HBZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hemoglobin subunit zeta
    Protein Accession:
    Secondary Accessions:
    • Q6IBF6

    Protein attributes for HBZ Gene

    142 amino acids
    Molecular mass:
    15637 Da
    Quaternary structure:
    • Heterotetramer of two zeta chains and two epsilon chains in early embryonic hemoglobin Gower-1; two zeta chains and two gamma chains in fetal hemoglobin Portland-1. Heterotetramer of two zeta chains and two beta chains in hemoglobin Portland-2, detected in fetuses and neonates with homozygous alpha-thalassemia.

    Three dimensional structures from OCA and Proteopedia for HBZ Gene

neXtProt entry for HBZ Gene

Post-translational modifications for HBZ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBZ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBZ Gene

Domains & Families for HBZ Gene

Gene Families for HBZ Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HBZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the globin family.
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBZ: view

Function for HBZ Gene

Molecular function for HBZ Gene

GENATLAS Biochemistry:
UniProtKB/Swiss-Prot Function:
The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin.

Phenotypes From GWAS Catalog for HBZ Gene

Gene Ontology (GO) - Molecular Function for HBZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter activity IEA,TAS --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 6683087
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with HBZ: view
genes like me logo Genes that share phenotypes with HBZ: view

Animal Models for HBZ Gene

MGI Knock Outs for HBZ:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HBZ Gene

Localization for HBZ Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBZ gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HBZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005833 hemoglobin complex IEA,TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with HBZ: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for HBZ Gene

Pathways & Interactions for HBZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for HBZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006810 transport IEA --
GO:0015671 oxygen transport IEA --
GO:0043249 erythrocyte maturation IEA --
genes like me logo Genes that share ontologies with HBZ: view

No data available for Pathways by source and SIGNOR curated interactions for HBZ Gene

Drugs & Compounds for HBZ Gene

(1) Drugs for HBZ Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

(1) Additional Compounds for HBZ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HBZ: view

Transcripts for HBZ Gene

mRNA/cDNA for HBZ Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(53) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBZ Gene

Hemoglobin, zeta:
Representative Sequences:

Inhibitory RNA Products

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

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

Relevant External Links for HBZ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HBZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBZ Gene

This gene is overexpressed in Whole Blood (x16.5) and Testis (x11.5).

Protein differential expression in normal tissues from HIPED for HBZ Gene

This gene is overexpressed in Fetal Liver (20.5), Fetal heart (15.1), and Placenta (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HBZ Gene

NURSA nuclear receptor signaling pathways regulating expression of HBZ Gene:


SOURCE GeneReport for Unigene cluster for HBZ Gene:


mRNA Expression by UniProt/SwissProt for HBZ Gene:

Tissue specificity: Detected in fetal erythrocytes (at protein level).

Evidence on tissue expression from TISSUES for HBZ Gene

  • Pancreas(4.2)
  • Spleen(4)
  • Blood(3.2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBZ Gene

Germ Layers:
  • mesoderm
  • cardiovascular
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with HBZ: view

Primer Products

No data available for Protein tissue co-expression partners for HBZ Gene

Orthologs for HBZ Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBZ Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HBZ 33
  • 98.12 (n)
-- 34
  • 96 (a)
-- 34
  • 83 (a)
(Canis familiaris)
Mammalia LOC100855600 33
  • 88.26 (n)
-- 34
  • 83 (a)
-- 34
  • 70 (a)
(Bos Taurus)
Mammalia -- 34
  • 85 (a)
-- 34
  • 84 (a)
(Mus musculus)
Mammalia Hba-x 33 16 34
  • 82.16 (n)
(Rattus norvegicus)
Mammalia Hbz 33
  • 81.92 (n)
(Ornithorhynchus anatinus)
Mammalia HBZ 34
  • 78 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
HBA 34
  • 47 (a)
(Gallus gallus)
Aves HBZ 34 34
  • 71 (a)
LOC100858080 33
  • 69.72 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hba4 33
  • 62.91 (n)
(Danio rerio)
Actinopterygii si:ch211-5k11.6 33
  • 58.22 (n)
HBQ1 34
  • 48 (a)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8146 33
Species where no ortholog for HBZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBZ Gene

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

Paralogs for HBZ Gene

Paralogs for HBZ Gene

(11) SIMAP similar genes for HBZ Gene using alignment to 2 proteins: Pseudogenes for HBZ Gene

genes like me logo Genes that share paralogs with HBZ: view

Variants for HBZ Gene

Sequence variations from dbSNP and Humsavar for HBZ Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000048950 -- 149,847(+) TATAA(A/T)TCAGG intron-variant
rs1000052816 -- 141,804(+) GTGGC(A/G)CGATC upstream-variant-2KB
rs1000083408 -- 141,944(+) TTCAC(C/T)GCGTT upstream-variant-2KB
rs1000205368 -- 140,805(+) CATGG(A/G)TTTTT upstream-variant-2KB
rs1000526873 -- 141,825(+) GCAAG(C/T)TCCAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HBZ Gene

Variant ID Type Subtype PubMed ID
nsv827474 CNV gain 20364138
nsv827473 CNV gain 20364138
nsv570925 CNV loss 21841781
nsv518291 CNV loss 19592680
nsv436840 CNV insertion 17901297
nsv1050893 CNV gain 25217958
nsv1044142 CNV gain 25217958
nsv1037664 CNV gain 25217958
esv3637546 CNV gain 21293372
esv3637543 CNV loss 21293372
esv2760406 CNV gain+loss 21179565
esv2422427 CNV duplication 17116639
esv1084861 CNV insertion 17803354
dgv472e214 CNV loss 21293372
dgv2690n100 CNV gain 25217958

Variation tolerance for HBZ Gene

Gene Damage Index Score: 0.30; 6.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBZ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBZ Gene

Disorders for HBZ Gene

MalaCards: The human disease database

(4) MalaCards diseases for HBZ Gene - From: GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thalassemias, alpha-
  • thalassemia, alpha-
  • sickle-cell thalassemia with crisis
spinal cord disease
  • myelopathy
fetal erythroblastosis
  • ef - erythroblastosis foetalis
- elite association - COSMIC cancer census association via MalaCards
Search HBZ in MalaCards View complete list of genes associated with diseases

Relevant External Links for HBZ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HBZ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBZ Gene

Publications for HBZ Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  2. Effect of zeta-globin substitution on the O2-transport properties of Hb S in vitro and in vivo. (PMID: 15555579) He Z … Russell JE (Biochemical and biophysical research communications 2004) 3 22 60
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 60
  4. The role of beta chains in the control of the hemoglobin oxygen binding function: chimeric human/mouse proteins, structure, and function. (PMID: 11747442) Kidd RD … Brittain T (Biochemistry 2001) 3 4 60
  5. The relationship between chromosome structure and function at a human telomeric region. (PMID: 9054936) Flint J … Higgs DR (Nature genetics 1997) 3 4 60

Products for HBZ Gene

Sources for HBZ Gene

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