HBZ (Hemoglobin Subunit Zeta)
Alpha-like globin gene essential for embryonic erythropoiesis
Gene Information Card
| Symbol | HBZ |
|---|---|
| Full Name | Hemoglobin Subunit Zeta |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 3050 ncbi.nlm.nih.gov/gene/3050 |
| Ensembl ID | ENSG00000130656 |
| UniProt ID | P02008 |
| OMIM ID | 142310 |
| HGNC ID | 4835 |
| Aliases | HBAZ, zeta-globin |
Description
The HBZ gene encodes the zeta-globin chain, an alpha-like globin that is the predominant alpha-type globin in embryonic hemoglobin (Hb Gower 1 and Hb Portland). It is expressed during early embryonic development and is progressively silenced after the first trimester. Mutations or deletions involving HBZ can contribute to alpha-thalassemia phenotypes, particularly in the context of the embryonic stage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-thalassemia | Deletions or mutations in the alpha-globin cluster including HBZ reduce embryonic hemoglobin synthesis, leading to impaired oxygen transport in early development. | ClinVar, OMIM |
| Hemoglobin H disease | Compound heterozygosity for alpha-globin deletions can involve HBZ, contributing to reduced alpha-globin chain production. | OMIM, ClinVar |
| Hb Bart's hydrops fetalis | Homozygous deletion of all four alpha-globin genes (including HBZ) results in complete absence of embryonic and fetal alpha-like globins, causing lethal hydrops fetalis. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Erythroid cells (embryonic) | High | Embryonic stage only |
| Bone marrow (adult) | Not detected | Silenced after embryonic development |
| Liver (fetal) | Moderate | Fetal liver erythropoiesis |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | High | Erythroleukemia cell line expressing embryonic globins |
| HEL | Moderate | Erythroleukemia cell line |
| TF-1 | Low | Erythroid progenitor cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of initiation codon, reduced zeta-globin synthesis |
| c.427C>T (p.Arg143Ter) | Nonsense | Rare | Premature termination, loss of function |
| c.2T>C (p.Met1?) | Missense | Rare | Altered translation start, reduced expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt the start codon or introduce premature stop codons lead to loss of zeta-globin function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT_216 (Oxygen transport)
• REACT_111102 (Erythrocytes take up oxygen and release carbon dioxide)
• WP2446 (Heme biosynthesis)
Protein Summary
Hemoglobin subunit zeta (zeta-globin) is a 141-amino acid protein that forms part of embryonic hemoglobin complexes. It associates with epsilon-globin (Hb Gower 1) or gamma-globin (Hb Portland) to facilitate oxygen transport in the developing embryo. The protein contains a heme-binding pocket and is structurally similar to alpha-globin. Expression is tightly regulated and silenced after the first trimester.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HBZ Knockout HEK293 Cell Line | EDJ-KQ4853 | Human | 3050 | Details Get a Quote |
| HBZ Knockout HeLa Cell Line | EDJ-KQ53501 | Human | 3050 | Details Get a Quote |
| HBZ Knockout A-549 Cell Line | EDJ-KQ61970 | Human | 3050 | Details Get a Quote |
| HBZ Knockout HCT 116 Cell Line | EDJ-KQ70452 | Human | 3050 | Details Get a Quote |
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