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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 Alpha-Thalassemia and Thalassemia. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for HBZ Gene

Promoters and enhancers for HBZ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I000144 Enhancer 1.1 FANTOM5 dbSUPER 550.8 +1.1 1103 0.3 SMAD1 ARNT TCF12 ZNF766 GATA2 NCOA1 ZNF592 MBD2 SMARCA4 MYNN HBZ HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 GC16M000144 GC16P000130
GH16I000152 Promoter/Enhancer 1.1 EPDnew dbSUPER 550.4 +10.6 10572 0.1 HDAC1 ZNF449 NR4A1 EBF1 ZNF592 MTA3 NCOR1 POLR2A VEZF1 SPI1 HBM HBZ GC16M000144 GC16P000130
GH16I000143 Enhancer 0.9 ENCODE dbSUPER 550.8 +1.5 1524 0.2 BRD4 ZNF644 POLR2A VEZF1 EGR2 ZNF639 MTA2 ZBED1 ZBTB11 HLF HBZ LOC100129478 LUC7L FAM234A NPRL3 GC16M000144 GC16P000130
GH16I000175 Promoter/Enhancer 1.4 EPDnew Ensembl 27.9 +35.0 34988 3.1 HDGF PKNOX1 FOXA2 TCF12 SP3 NCOA1 REST ZNF623 ZNF592 ATF4 ENSG00000207243 HBA1 HBA2 GC16P000431 HBZ RHOT2 WASH4P HBM WDR90 AXIN1
GH16I000066 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -68.6 -68551 13.6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 RHBDF1 MPG ENSG00000278995 GC16P000423 NPRL3 LUC7L ENSG00000268836 WASH4P ENSG00000228779 HBZ
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HBZ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBZ gene promoter:

Genomic Locations for HBZ Gene

Genomic Locations for HBZ Gene
chr16:142,053-154,505
(GRCh38/hg38)
Size:
12,453 bases
Orientation:
Plus strand
chr16:202,686-204,504
(GRCh37/hg19)

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:
    P02008-HBAZ_HUMAN
    Recommended name:
    Hemoglobin subunit zeta
    Protein Accession:
    P02008
    Secondary Accessions:
    • Q6IBF6

    Protein attributes for HBZ Gene

    Size:
    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

No Post-translational modifications

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

HGNC:
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

P02008

UniProtKB/Swiss-Prot:

HBAZ_HUMAN :
  • Belongs to the globin family.
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:
hemoglobin,zeta,embryonic
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 carrier 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:

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

COMPARTMENTS
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 HDA,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 by RNA polymerase II 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: - -
SP2:
SP3:
SP4: - -
SP5: - - - -

Relevant External Links for HBZ Gene

GeneLoc Exon Structure for
HBZ
ECgene alternative splicing isoforms for
HBZ

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:

HBZ

SOURCE GeneReport for Unigene cluster for HBZ Gene:

Hs.585357

mRNA Expression by UniProt/SwissProt for HBZ Gene:

P02008-HBAZ_HUMAN
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
Systems:
  • cardiovascular
Organs:
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia HBZ 33
  • 98.12 (n)
-- 34
  • 96 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC100855634 33
  • 88.26 (n)
-- 34
  • 83 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hba-x 33 16 34
  • 82.16 (n)
rat
(Rattus norvegicus)
Mammalia Hbz 33
  • 81.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HBZ 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
OneToMany
HBA 34
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBZ 33 34 34
  • 69.72 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hba4 33
  • 62.91 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-5k11.6 33
  • 58.22 (n)
HBQ1 34
  • 48 (a)
OneToMany
-- 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

ENSEMBL:
Gene Tree for HBZ (if available)
TreeFam:
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.org 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 Variation AA Info Type
rs1000048950 -- 149,847(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000052816 -- 141,804(+) A/G upstream_transcript_variant
rs1000083408 -- 141,944(+) C/T upstream_transcript_variant
rs1000205368 -- 140,805(+) G/A upstream_transcript_variant
rs1000526873 -- 141,825(+) C/T upstream_transcript_variant

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)

Additional Variant Information for HBZ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBZ

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: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-thalassemia
  • thalassemia, alpha-
thalassemia
  • 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
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 58
  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 58
  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 58
  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 58
  5. The relationship between chromosome structure and function at a human telomeric region. (PMID: 9054936) Flint J … Higgs DR (Nature genetics 1997) 3 4 58

Products for HBZ Gene

Sources for HBZ Gene

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