Details for: HBZ

Gene ID: 3050

Symbol: HBZ

Ensembl ID: ENSG00000130656

Description: hemoglobin subunit zeta

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythroblast (CL0000765)
    Fold Change: 4.66
    Marker Score: 2906.5
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.29
    Marker Score: 2309.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 2.24
    Marker Score: 1526
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.78
    Marker Score: 1592
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.7
    Marker Score: 1171.5
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.47
    Marker Score: 4830
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.17
    Marker Score: 1167
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.16
    Marker Score: 575.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7690
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.04
    Marker Score: 2655
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71834
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48059
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 629
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.8
    Marker Score: 264
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.74
    Marker Score: 237
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.72
    Marker Score: 398
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.7
    Marker Score: 326
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 460
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.52
    Marker Score: 221
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.5
    Marker Score: 244.5
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.36
    Marker Score: 271
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.29
    Marker Score: 356
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.26
    Marker Score: 65
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.25
    Marker Score: 143
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.25
    Marker Score: 66
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.24
    Marker Score: 162
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.24
    Marker Score: 265
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.24
    Marker Score: 246
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.22
    Marker Score: 236
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.21
    Marker Score: 139
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.18
    Marker Score: 255
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.18
    Marker Score: 66
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.17
    Marker Score: 72
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.17
    Marker Score: 240
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.16
    Marker Score: 156
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.16
    Marker Score: 106
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.15
    Marker Score: 76
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.15
    Marker Score: 86
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.14
    Marker Score: 149
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.14
    Marker Score: 49
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.14
    Marker Score: 40
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.13
    Marker Score: 155
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.13
    Marker Score: 78.5
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.13
    Marker Score: 72
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.13
    Marker Score: 220
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.13
    Marker Score: 242
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.13
    Marker Score: 57
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.13
    Marker Score: 77
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.13
    Marker Score: 67
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.12
    Marker Score: 49
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.12
    Marker Score: 71
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.12
    Marker Score: 76
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.12
    Marker Score: 68
  • Cell Name: eosinophil (CL0000771)
    Fold Change: 0.11
    Marker Score: 36
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.11
    Marker Score: 32
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.11
    Marker Score: 655
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.11
    Marker Score: 190
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.11
    Marker Score: 1658
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1
    Marker Score: 433
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.1
    Marker Score: 200.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1
    Marker Score: 206
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.1
    Marker Score: 41
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.1
    Marker Score: 33
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.09
    Marker Score: 50
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.09
    Marker Score: 23
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.09
    Marker Score: 45
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.09
    Marker Score: 44
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.09
    Marker Score: 91
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.09
    Marker Score: 140
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.09
    Marker Score: 46
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.08
    Marker Score: 329
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.08
    Marker Score: 38
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.08
    Marker Score: 145.5
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.08
    Marker Score: 35
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.08
    Marker Score: 120
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.08
    Marker Score: 80
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.07
    Marker Score: 89
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.07
    Marker Score: 616
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.07
    Marker Score: 62
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.06
    Marker Score: 29
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.06
    Marker Score: 37

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Other Information

**Key characteristics:** - The HBZ gene is located on chromosome 1. - It is a large gene, encoding a protein of approximately 145 kDa. - The protein is expressed in many cell types, including erythroblast, blood vessel endothelial cell, hepatocyte, extravillous trophoblast, conventional dendritic cell, hepatoblast, Kupffer cell, promyelocyte, goblet cell, and intestinal crypt stem cell of colon. - The protein is a tetramer, consisting of two alpha-globin subunits and two beta-globin subunits. **Pathways and functions:** - The HBZ gene is involved in multiple pathways and functions, including: - Carbon dioxide transport: Hemoglobin binds to carbon dioxide in the lungs and releases it in the tissues, where it is used in the process of oxygen transport. - Cellular oxidant detoxification: Hemoglobin can also act as a cellular antioxidant, binding and removing harmful reactive oxygen species (ROS) produced by the mitochondria. - Extracellular exosome: The HBZ gene is also involved in the formation of extracellular exosomes, which are small vesicles that are released by cells and carry various molecules, including proteins, lipids, and nucleic acids. - Haptoglobin-hemoglobin complex: Hemoglobin can bind to haptoglobin, a protein that is found in red blood cells. This complex is important for the transport of oxygen in the blood. - Heme binding: Hemoglobin can also bind to heme, a porphyrin ring that is found in some hemoglobin variants. This complex is involved in the transport of oxygen in the tissues. **Clinical significance:** The HBZ gene is a clinically significant gene because mutations in the HBZ gene have been linked to several diseases. These diseases include sickle cell anemia, which is caused by a mutation in the beta-globin gene that results in the production of a defective hemoglobin protein that is unable to carry oxygen effectively. Other genetic disorders that are associated with HBZ mutations include thalassemia, which is caused by mutations in the alpha-globin gene, and hereditary spherocytosis, which is caused by mutations in the HBB gene.

Genular Protein ID: 2341227005

Symbol: HBAZ_HUMAN

Name: Hemoglobin subunit zeta

UniProtKB Accession Codes:

P02008 Q6IBF6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 4 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6297773

Title: The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene.

PubMed ID: 6297773

DOI: 10.1016/0092-8674(82)90311-7

PubMed ID: 6963223

Title: Cloning and nucleotide sequence analysis of human embryonic zeta-globin cDNA.

PubMed ID: 6963223

DOI: 10.1089/dna.1982.1.355

PubMed ID: 9054936

Title: The relationship between chromosome structure and function at a human telomeric region.

PubMed ID: 9054936

DOI: 10.1038/ng0397-252

PubMed ID: 11157797

Title: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

PubMed ID: 11157797

DOI: 10.1093/hmg/10.4.339

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6179844

Title: Human embryonic haemoglobins. The primary structure of the zeta chains.

PubMed ID: 6179844

PubMed ID: 6171809

Title: Structure of the zeta chain of human embryonic hemoglobin.

PubMed ID: 6171809

DOI: 10.1073/pnas.78.10.6076

PubMed ID: 6172357

Title: Human embryonic haemoglobins. Ac-Ser-Leu-Thr-is the N-terminal sequence of the zeta-chains.

PubMed ID: 6172357

PubMed ID: 6539334

Title: Human hemoglobin Portland II (zeta 2 beta 2). Isolation and characterization of Portland hemoglobin components and their constituent globin chains.

PubMed ID: 6539334

DOI: 10.1016/s0021-9258(17)39875-7

PubMed ID: 1939469

Title: Quantities of adult, fetal and embryonic globin chains in the blood of eighteen- to twenty-week-old human fetuses.

PubMed ID: 1939469

DOI: 10.1016/0378-4347(91)80142-y

PubMed ID: 20925047

Title: Haemoglobin level, proportion of haemoglobin Bart's and haemoglobin Portland in fetuses affected by homozygous alpha0-thalassemia from 12 to 40 weeks' gestation.

PubMed ID: 20925047

DOI: 10.1002/pd.2619

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 11747442

Title: The role of beta chains in the control of the hemoglobin oxygen binding function: chimeric human/mouse proteins, structure, and function.

PubMed ID: 11747442

DOI: 10.1021/bi011329f

PubMed ID: 24100324

Title: Structure of fully liganded Hb zeta2beta2s trapped in a tense conformation.

PubMed ID: 24100324

DOI: 10.1107/s0907444913019197

Sequence Information:

  • Length: 142
  • Mass: 15637
  • Checksum: B62A9B825743A155
  • Sequence:
    • MSLTKTERTI IVSMWAKIST QADTIGTETL ERLFLSHPQT KTYFPHFDLH PGSAQLRAHG 
SKVVAAVGDA VKSIDDIGGA LSKLSELHAY ILRVDPVNFK LLSHCLLVTL AARFPADFTA 
EAHAAWDKFL SVVSSVLTEK YR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.