Free for academic non-profit institutions. Other users need a Commercial license

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

No data available for 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
GH16F000174 0.7 Ensembl 27.9 +34.7 34664 3.7 TBP HDGF PKNOX1 INSM2 SIN3A KLF17 NFXL1 ZNF2 GLIS2 KLF7 HBZ HBM FAM234A NPRL3 ENSG00000268836 GC16P000193 HBA1
GH16F000171 0.5 Ensembl 19.8 +31.3 31328 3.0 INSM2 SIN3A ZIC2 ZNF2 ZNF664 ZNF121 ZFHX2 GLIS2 PATZ1 PRDM10 HBZ ENSG00000268836 GC16P000207 HBA2
GH16F000253 0.5 ENCODE 17.5 +112.0 112030 0.8 BCOR CTCF GLIS1 THRAP3 NRF1 ZBTB33 RAD21 HBZ LOC100129478 LUC7L HBM MPG ENSG00000269881 PIR53440
GH16F000180 0.2 ENCODE 13.1 +39.3 39294 1.5 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF207 LOC105371038 RHOT2 ENSG00000260022 HBM HBZ ENSG00000268836 JMJD8 WASH4P PIGQ HBQ1
GH16F000112 0.6 ENCODE 12.8 -28.4 -28412 2.4 HDGF ARNT MLX CREB3L1 ARID4B SLC30A9 FOS KLF13 JUNB REST NPRL3 LOC105371038 ENSG00000262528 WASH4P ENSG00000269482 HBZ HBM RHOT2 ENSG00000268836 ENSG00000228779
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HBZ on UCSC Golden Path with GeneCards custom track

Genomic Location for HBZ Gene

142,053 bp from pter
154,505 bp from pter
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:

Antibody Products

  • R&D Systems Antibodies for HBZ (Hemoglobin zeta)

No data available for DME Specific Peptides for HBZ Gene

Domains & Families for HBZ Gene

Gene Families for HBZ Gene

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.

Gene Ontology (GO) - Molecular Function for HBZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter activity IEA --
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

Human Phenotype Ontology for HBZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HBZ Gene

MGI Knock Outs for HBZ:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for HBZ Gene

Subcellular locations from

Jensen Localization Image for HBZ Gene COMPARTMENTS Subcellular localization image for HBZ gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HBZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005833 hemoglobin complex IEA --
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 for HBZ Gene

Pathways & Interactions for HBZ Gene

SuperPathways 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

Clone Products

Flow Cytometry 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 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).
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 34
  • 98.12 (n)
-- 35
  • 96 (a)
-- 35
  • 83 (a)
(Canis familiaris)
Mammalia LOC100855600 34
  • 88.26 (n)
-- 35
  • 83 (a)
-- 35
  • 70 (a)
(Bos Taurus)
Mammalia -- 35
  • 85 (a)
-- 35
  • 84 (a)
(Mus musculus)
Mammalia Hba-x 34 16 35
  • 82.16 (n)
(Rattus norvegicus)
Mammalia Hbz 34
  • 81.92 (n)
(Ornithorhynchus anatinus)
Mammalia HBZ 35
  • 78 (a)
(Monodelphis domestica)
Mammalia -- 35
  • 73 (a)
HBA 35
  • 47 (a)
(Gallus gallus)
Aves HBZ 35 35
  • 71 (a)
LOC100858080 34
  • 69.72 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hba4 34
  • 62.91 (n)
(Danio rerio)
Actinopterygii si:ch211-5k11.6 34
  • 58.22 (n)
HBQ1 35
  • 48 (a)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8146 34
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
rs10622437 -- 141,580(+) AACAT(-/TT)TTTTT upstream-variant-2KB
rs111716204 -- 154,411(+) GCCTC(C/G)GGGAC utr-variant-3-prime
rs111755529 -- 154,688(+) GGGAC(C/T)CAGGC downstream-variant-500B
rs111819749 -- 154,217(+) GGTCG(A/C)CGGGC intron-variant
rs112017347 -- 141,678(+) GTTCA(C/T)ATCAT upstream-variant-2KB

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

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

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 D.S. … Malek J. (Genome Res. 2004) 3 4 64
  2. Effect of zeta-globin substitution on the O2-transport properties of Hb S in vitro and in vivo. (PMID: 15555579) He Z. … Russell J.E. (Biochem. Biophys. Res. Commun. 2004) 3 22 64
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4 64
  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 R.D. … Brittain T. (Biochemistry 2001) 3 4 64
  5. The relationship between chromosome structure and function at a human telomeric region. (PMID: 9054936) Flint J. … Higgs D.R. (Nat. Genet. 1997) 3 4 64

Products for HBZ Gene

Sources for HBZ Gene

Loading form....