Human Gene HBZ (ENST00000252951.3_4) from GENCODE V47lift37
  Description: hemoglobin subunit zeta (from RefSeq NM_005332.3)
Gencode Transcript: ENST00000252951.3_4
Gencode Gene: ENSG00000130656.6_13
Transcript (Including UTRs)
   Position: hg19 chr16:202,643-204,502 Size: 1,860 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr16:202,909-204,399 Size: 1,491 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:202,643-204,502)mRNA (may differ from genome)Protein (142 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HBAZ_HUMAN
DESCRIPTION: RecName: Full=Hemoglobin subunit zeta; AltName: Full=HBAZ; AltName: Full=Hemoglobin zeta chain; AltName: Full=Zeta-globin;
FUNCTION: The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin, synthesized primarily in the yolk sac.
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.
TISSUE SPECIFICITY: Red blood cells.
SIMILARITY: Belongs to the globin family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBZ";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HBZ
Diseases sorted by gene-association score: thalassemias, alpha-* (68), thalassemia (6), spinal cord disease (2), fetal erythroblastosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.22 RPKM in Testis
Total median expression: 14.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.90266-0.342 Picture PostScript Text
3' UTR -33.20103-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000971 - Globin
IPR009050 - Globin-like
IPR012292 - Globin_dom
IPR002338 - Haemoglobin_a
IPR002340 - Haemoglobin_zeta

Pfam Domains:
PF00042 - Globin

SCOP Domains:
46458 - Globin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JEB - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02008
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0015671 oxygen transport
GO:0043249 erythrocyte maturation

Cellular Component:
GO:0005833 hemoglobin complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC027892 - Homo sapiens hemoglobin, zeta, mRNA (cDNA clone MGC:34397 IMAGE:5224569), complete cds.
JD324851 - Sequence 305875 from Patent EP1572962.
M24173 - Human zeta hemoglobin mRNA, complete cds.
JD229583 - Sequence 210607 from Patent EP1572962.
AB590422 - Synthetic construct DNA, clone: pFN21AE1508, Homo sapiens HBZ gene for hemoglobin, zeta, without stop codon, in Flexi system.
DQ894080 - Synthetic construct Homo sapiens clone IMAGE:100008540; FLH167462.01L; RZPDo839A1289D hemoglobin, zeta (HBZ) gene, encodes complete protein.
EU176221 - Synthetic construct Homo sapiens clone IMAGE:100006596; FLH263974.01X; RZPDo839F01245D hemoglobin, zeta (HBZ) gene, encodes complete protein.
KJ891337 - Synthetic construct Homo sapiens clone ccsbBroadEn_00731 HBZ gene, encodes complete protein.
CR456848 - Homo sapiens full open reading frame cDNA clone RZPDo834G076D for gene HBZ, hemoglobin, zeta; complete cds, incl. stopcodon.
JD170795 - Sequence 151819 from Patent EP1572962.
JD142795 - Sequence 123819 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000252951.1, ENST00000252951.2, HBAZ_HUMAN, HBZ2, NM_005332, P02008, Q6IBF6, uc317fjg.1, uc317fjg.2
UCSC ID: ENST00000252951.3_4
RefSeq Accession: NM_005332.3
Protein: P02008 (aka HBAZ_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HBZ:
a-thal (Alpha-Thalassemia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.