Details for: HBB

Gene ID: 3043

Symbol: HBB

Ensembl ID: ENSG00000244734

Description: hemoglobin subunit beta

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: respiratory basal cell (CL0002633)
    Fold Change: 3.08
    Marker Score: 4430
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 2.23
    Marker Score: 1787
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.18
    Marker Score: 7126
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.81
    Marker Score: 581
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 1.79
    Marker Score: 1384
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.47
    Marker Score: 920
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168679
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.46
    Marker Score: 720
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.4
    Marker Score: 950
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.2
    Marker Score: 394
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 1.17
    Marker Score: 294
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.09
    Marker Score: 789.5
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 1.08
    Marker Score: 327
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.03
    Marker Score: 504
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1
    Marker Score: 6064
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71765
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47990
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.98
    Marker Score: 214
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 493
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.95
    Marker Score: 955
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 447
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.94
    Marker Score: 292
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5258
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2726
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.9
    Marker Score: 7826
  • Cell Name: memory regulatory T cell (CL0002678)
    Fold Change: 0.9
    Marker Score: 313
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.89
    Marker Score: 204
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.84
    Marker Score: 363
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.83
    Marker Score: 360
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.81
    Marker Score: 227
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.81
    Marker Score: 1538
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.81
    Marker Score: 240
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.8
    Marker Score: 448
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.8
    Marker Score: 196
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.78
    Marker Score: 433
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.77
    Marker Score: 587
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.76
    Marker Score: 1236
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.76
    Marker Score: 502
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 576
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.75
    Marker Score: 280
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.74
    Marker Score: 3175
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 383
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3078
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.72
    Marker Score: 424
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 0.72
    Marker Score: 397
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.7
    Marker Score: 331
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.69
    Marker Score: 234
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.69
    Marker Score: 572.5
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.68
    Marker Score: 164
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.67
    Marker Score: 240
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.66
    Marker Score: 277
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.65
    Marker Score: 1833
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.65
    Marker Score: 369
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.64
    Marker Score: 588
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.64
    Marker Score: 241
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.63
    Marker Score: 315
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.63
    Marker Score: 8391
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.62
    Marker Score: 383
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.61
    Marker Score: 641
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.59
    Marker Score: 203
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.58
    Marker Score: 295
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 0.57
    Marker Score: 558
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.56
    Marker Score: 338
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.55
    Marker Score: 137
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.55
    Marker Score: 200
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.54
    Marker Score: 190
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.53
    Marker Score: 494
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.53
    Marker Score: 260
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.51
    Marker Score: 308
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.51
    Marker Score: 295
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.5
    Marker Score: 547
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5
    Marker Score: 232
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5
    Marker Score: 340
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 0.5
    Marker Score: 163
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.48
    Marker Score: 201
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.48
    Marker Score: 201
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.48
    Marker Score: 845
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.48
    Marker Score: 283
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.47
    Marker Score: 446
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.47
    Marker Score: 150
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.47
    Marker Score: 162
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.47
    Marker Score: 8322
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.46
    Marker Score: 388
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.46
    Marker Score: 2962
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.45
    Marker Score: 364
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.45
    Marker Score: 341
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.45
    Marker Score: 189
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.45
    Marker Score: 326
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.44
    Marker Score: 396
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 0.44
    Marker Score: 112
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.44
    Marker Score: 1140
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.44
    Marker Score: 102

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Other Information

**Key characteristics:** - HBB is a large protein with a molecular weight of approximately 64,500 Da. - It is encoded by a single gene with 14 exons and 13 introns. - The HBB gene is located on chromosome 11q21. - It is expressed in all red blood cells, both normal and abnormal. **Pathways and functions:** - The HBB gene is involved in several important pathways in the body, including: - Autophagy: HBB is a substrate for autophagy, a cellular process that breaks down damaged or unnecessary proteins and organelles. - Binding and uptake of ligands by scavenger receptors: HBB is a ligand for scavenger receptors, which are proteins that recognize and bind to damaged or oxidized molecules. - Cellular responses to stimuli: HBB is involved in a variety of cellular responses to stimuli, such as inflammation and injury. - Cellular response to stress: HBB is a stress protein that is expressed in response to stress conditions, such as hypoxia and heat shock. - Chaperone mediated autophagy: HBB is a chaperone protein that is involved in the formation and function of protein complexes. - Cytoprotection by hmox1: HBB is a protein that is involved in the cytoprotective response to hypoxia. - Erythrocytes take up carbon dioxide and release oxygen: HBB is responsible for the oxygen transport in red blood cells. - Erythrocytes take up oxygen and release carbon dioxide: HBB is also responsible for the release of oxygen from red blood cells into the tissues. **Clinical significance:** - Mutations in the HBB gene can lead to the production of abnormal hemoglobin, which can cause a variety of blood disorders, including sickle cell anemia and thalassemia. - HBB gene polymorphisms have been linked to an increased risk of certain chronic diseases, such as cancer and neurodegenerative disorders. - HBB gene therapy is a promising new treatment for sickle cell anemia and other genetic disorders caused by mutations in the HBB gene.

Genular Protein ID: 3052090986

Symbol: HBB_HUMAN

Name: Hemoglobin subunit beta

UniProtKB Accession Codes:

P68871 A4GX73 B2ZUE0 P02023 Q13852 Q14481 Q14510 Q45KT0 Q549N7 Q6FI08 Q6R7N2 Q8IZI1 Q9BX96 Q9UCD6 Q9UCP8 Q9UCP9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 1 CTD 1 CarbonylDB 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 20 DrugCentral 1 EMBL 100 EMDB 7 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 28 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 10 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 19 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 9 RefSeq 1 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

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Title: Nucleotide sequence analysis of coding and noncoding regions of human beta-globin mRNA.

PubMed ID: 1019344

DOI: 10.1016/s0079-6603(08)60917-4

PubMed ID: 6254664

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PubMed ID: 6254664

DOI: 10.1016/0092-8674(80)90428-6

PubMed ID: 16175509

Title: The beta-globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria.

PubMed ID: 16175509

DOI: 10.1086/491748

PubMed ID: 14702039

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PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 13872627

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PubMed ID: 13872627

DOI: 10.1515/bchm2.1961.325.1.283

PubMed ID: 13464827

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PubMed ID: 13464827

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PubMed ID: 25946035

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PubMed ID: 25946035

DOI: 10.1021/acs.jproteome.5b00179

PubMed ID: 1575724

Title: Isolation of a hemoglobin-derived opioid peptide from cerebrospinal fluid of patients with cerebrovascular bleedings.

PubMed ID: 1575724

DOI: 10.1016/0006-291x(92)90699-l

PubMed ID: 8401300

Title: Globin chain synthesis in hemolytic anemia reticulocytes. A case of hemoglobin Burke.

PubMed ID: 8401300

PubMed ID: 2581851

Title: Cloning specific complete polyadenylylated 3'-terminal cDNA segments.

PubMed ID: 2581851

DOI: 10.1016/0378-1119(85)90093-9

PubMed ID: 4555506

Title: X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhaemoglobin.

PubMed ID: 4555506

DOI: 10.1038/237146a0

PubMed ID: 4531009

Title: Sites of acetylation of sickle cell hemoglobin by aspirin.

PubMed ID: 4531009

DOI: 10.1073/pnas.71.12.4693

PubMed ID: 635569

Title: The glycosylation of hemoglobin: relevance to diabetes mellitus.

PubMed ID: 635569

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PubMed ID: 7358733

Title: Sites of nonenzymatic glycosylation of human hemoglobin A.

PubMed ID: 7358733

DOI: 10.1016/s0021-9258(19)85860-x

PubMed ID: 6166632

Title: Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys).

PubMed ID: 6166632

DOI: 10.1172/jci110226

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

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PubMed ID: 3718478

Title: Haemoglobin binding with haptoglobin. Localization of the haptoglobin-binding sites on the beta-chain of human haemoglobin by synthetic overlapping peptides encompassing the entire chain.

PubMed ID: 3718478

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PubMed ID: 1520632

Title: Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons.

PubMed ID: 1520632

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PubMed ID: 8637569

Title: S-nitrosohaemoglobin: a dynamic activity of blood involved in vascular control.

PubMed ID: 8637569

DOI: 10.1038/380221a0

PubMed ID: 9843411

Title: Crystal structure of the S-nitroso form of liganded human hemoglobin.

PubMed ID: 9843411

DOI: 10.1021/bi9816711

PubMed ID: 10588683

Title: Ancient origins of nitric oxide signaling in biological systems.

PubMed ID: 10588683

DOI: 10.1073/pnas.96.25.14206

PubMed ID: 11001883

Title: Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S.

PubMed ID: 11001883

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: 12149194

Title: Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria.

PubMed ID: 12149194

PubMed ID: 12470213

Title: Spinorphin as an endogenous inhibitor of enkephalin-degrading enzymes: roles in pain and inflammation.

PubMed ID: 12470213

DOI: 10.2174/1389203023380404

PubMed ID: 12552433

Title: Hookworm aspartic protease, Na-APR-2, cleaves human hemoglobin and serum proteins in a host-specific fashion.

PubMed ID: 12552433

DOI: 10.1086/367708

PubMed ID: 16001361

Title: How malaria has affected the human genome and what human genetics can teach us about malaria.

PubMed ID: 16001361

DOI: 10.1086/432519

PubMed ID: 16904236

Title: Hemorphin and hemorphin-like peptides isolated from dog pancreas and sheep brain are able to potentiate bradykinin activity in vivo.

PubMed ID: 16904236

DOI: 10.1016/j.peptides.2006.06.009

PubMed ID: 17676725

Title: Structure-activity relationship studies of spinorphin as a potent and selective human P2X(3) receptor antagonist.

PubMed ID: 17676725

DOI: 10.1021/jm070114m

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 4123689

Title: Structure of sickled erythrocytes and of sickle-cell hemoglobin fibers.

PubMed ID: 4123689

DOI: 10.1073/pnas.70.3.718

PubMed ID: 1195378

Title: Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution.

PubMed ID: 1195378

DOI: 10.1016/s0022-2836(75)80108-2

PubMed ID: 1177322

Title: Three-dimensional Fourier synthesis of human deoxyhaemoglobin at 2.5-A resolution: refinement of the atomic model.

PubMed ID: 1177322

DOI: 10.1016/s0022-2836(75)80037-4

PubMed ID: 7373648

Title: The structure of human carbonmonoxy haemoglobin at 2.7-A resolution.

PubMed ID: 7373648

DOI: 10.1016/0022-2836(80)90308-3

PubMed ID: 6726807

Title: The crystal structure of human deoxyhaemoglobin at 1.74 A resolution.

PubMed ID: 6726807

DOI: 10.1016/0022-2836(84)90472-8

PubMed ID: 1567857

Title: High-resolution X-ray study of deoxyhemoglobin Rothschild 37 beta Trp-->Arg: a mutation that creates an intersubunit chloride-binding site.

PubMed ID: 1567857

DOI: 10.1021/bi00131a030

PubMed ID: 1507231

Title: Structure-function relationships in the low-affinity mutant haemoglobin Aalborg (Gly74 (E18)beta-->Arg).

PubMed ID: 1507231

DOI: 10.1016/0022-2836(92)90638-z

PubMed ID: 8377203

Title: Human deoxyhaemoglobin-2,3-diphosphoglycerate complex low-salt structure at 2.5 A resolution.

PubMed ID: 8377203

DOI: 10.1006/jmbi.1993.1505

PubMed ID: 8642597

Title: Crystal structure of T state haemoglobin with oxygen bound at all four haems.

PubMed ID: 8642597

DOI: 10.1006/jmbi.1996.0124

PubMed ID: 9521756

Title: High-resolution crystal structures of human hemoglobin with mutations at tryptophan 37beta: structural basis for a high-affinity T-state.

PubMed ID: 9521756

DOI: 10.1021/bi9708702

PubMed ID: 9830011

Title: Crystal structure of deoxy-human hemoglobin beta6 Glu-->Trp. Implications for the structure and formation of the sickle cell fiber.

PubMed ID: 9830011

DOI: 10.1074/jbc.273.49.32690

PubMed ID: 12454462

Title: Structure of mutant human carbonmonoxyhemoglobin C (betaE6K) at 2.0 A resolution.

PubMed ID: 12454462

DOI: 10.1107/s0907444902016426

PubMed ID: 24100324

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

PubMed ID: 24100324

DOI: 10.1107/s0907444913019197

PubMed ID: 5919752

Title: Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.

PubMed ID: 5919752

DOI: 10.1126/science.154.3752.1024

PubMed ID: 1115799

Title: Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).

PubMed ID: 1115799

PubMed ID: 186485

Title: Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron.

PubMed ID: 186485

DOI: 10.1172/jci108561

PubMed ID: 1971109

Title: Molecular basis for dominantly inherited inclusion body beta-thalassemia.

PubMed ID: 1971109

DOI: 10.1073/pnas.87.10.3924

PubMed ID: 8330974

Title: Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.

PubMed ID: 8330974

DOI: 10.3109/03630269308998896

PubMed ID: 721609

Title: Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain.

PubMed ID: 721609

DOI: 10.3109/03630267809007075

PubMed ID: 4850241

Title: A new haemoglobin J from Turkey -- Hb Ankara (beta10 (A7) Ala-Asp).

PubMed ID: 4850241

DOI: 10.1016/0014-5793(74)80766-0

PubMed ID: 3707969

Title: Hb J-Antakya or alpha 2 beta (2)65(E9)Lys-->Met in a Turkish family and Hb complutense or alpha 2 beta (2)127(H5)Gln-->Glu in a Spanish family; correction of a previously published identification.

PubMed ID: 3707969

DOI: 10.1016/0167-4838(86)90178-0

PubMed ID: 3654265

Title: A new unstable and low oxygen affinity hemoglobin variant: Hb J-Auckland [beta 25(B7)Gly-->Asp].

PubMed ID: 3654265

DOI: 10.3109/03630268709017888

PubMed ID: 8718692

Title: Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].

PubMed ID: 8718692

DOI: 10.3109/03630269509005825

PubMed ID: 3384710

Title: Hemoglobin Brest [beta 127 (H5)Gln-->Lys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior.

PubMed ID: 3384710

DOI: 10.3109/03630268808998024

PubMed ID: 6166590

Title: Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant.

PubMed ID: 6166590

DOI: 10.3109/03630268108991807

PubMed ID: 6629823

Title: A new hemoglobin with high oxygen affinity -- hemoglobin Bunbury: alpha 2 beta 2 [94 (FG1) Asp replaced by Asn].

PubMed ID: 6629823

DOI: 10.3109/03630268309038410

PubMed ID: 1247583

Title: Hemoglobin J Cairo: beta 65 (E9) Lys leads to Gln, A new hemoglobin variant discovered in an Egyptian family.

PubMed ID: 1247583

DOI: 10.1016/0005-2795(76)90348-2

PubMed ID: 1138922

Title: A new haemoglobin variant, haemoglobin Camperdown (beta 104 (G6) arginine->serine).

PubMed ID: 1138922

DOI: 10.1016/0005-2795(75)90231-7

PubMed ID: 992050

Title: Haemoglobin caribbean beta91 (F7) Leu replaced by Arg: a mildly haemoglobin with a low oxygen affinity.

PubMed ID: 992050

DOI: 10.1016/0014-5793(76)80662-x

PubMed ID: 6434492

Title: A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly-->Ser.

PubMed ID: 6434492

DOI: 10.3109/03630268408991716

PubMed ID: 1814856

Title: Hb Coimbra or alpha 2 beta (2)99(G1)Asp-->Glu, a newly discovered high oxygen affinity variant.

PubMed ID: 1814856

DOI: 10.3109/03630269109027896

PubMed ID: 8641705

Title: Hb Costa Rica or alpha 2 beta 2 77(EF1)His-->Arg: the first example of a somatic cell mutation in a globin gene.

PubMed ID: 8641705

DOI: 10.1007/s004390050145

PubMed ID: 8602627

Title: Hemoglobin Debrousse (beta 96[FG3]Leu-->Pro): a new unstable hemoglobin with twofold increased oxygen affinity.

PubMed ID: 8602627

DOI: 10.1002/(sici)1096-8652(199604)51:4<276::aid-ajh5>3.0.co;2-t

PubMed ID: 2399911

Title: Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val-->Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia.

PubMed ID: 2399911

DOI: 10.1002/ajh.2830350206

PubMed ID: 1511986

Title: Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain.

PubMed ID: 1511986

DOI: 10.1007/bf00221961

PubMed ID: 1301199

Title: A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.

PubMed ID: 1301199

DOI: 10.1002/humu.1380010207

PubMed ID: 8111050

Title: A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.

PubMed ID: 8111050

PubMed ID: 8811317

Title: Hb J-Europa [beta 62(E6)Ala-->Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme.

PubMed ID: 8811317

DOI: 10.3109/03630269609027919

PubMed ID: 1917539

Title: Hb Geelong [beta 139(H17)Asn-->Asp].

PubMed ID: 1917539

DOI: 10.3109/03630269109072487

PubMed ID: 3666141

Title: Hemoglobin Grange-Blanche [beta 27(B9) Ala-->Val], a new variant with normal expression and increased affinity for oxygen.

PubMed ID: 3666141

DOI: 10.1016/0014-5793(87)80509-4

PubMed ID: 1487420

Title: Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.

PubMed ID: 1487420

DOI: 10.3109/03630269208993117

PubMed ID: 826083

Title: Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met).

PubMed ID: 826083

DOI: 10.1159/000207947

PubMed ID: 3754244

Title: Hb Himeji or beta 140 (H18) Ala-->Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation.

PubMed ID: 3754244

DOI: 10.3109/03630268609046438

PubMed ID: 2513289

Title: Hb Hinsdale [beta 139 (H17)Asn-->Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate.

PubMed ID: 2513289

DOI: 10.3109/03630268908998084

PubMed ID: 8745430

Title: HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.

PubMed ID: 8745430

DOI: 10.3109/03630269609027908

PubMed ID: 8144352

Title: Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant of the alpha 1 beta 2 contact.

PubMed ID: 8144352

DOI: 10.3109/03630269309043491

PubMed ID: 429365

Title: The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling.

PubMed ID: 429365

DOI: 10.1016/s0021-9258(18)50784-5

PubMed ID: 1787097

Title: Hb Isehara (or Hb Redondo) [beta 92 (F8) His-->Asn]: an unstable variant with a proximal histidine substitution at the heme contact.

PubMed ID: 1787097

DOI: 10.3109/03630269109027880

PubMed ID: 4639022

Title: Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92)).

PubMed ID: 4639022

DOI: 10.1172/jci107050

PubMed ID: 2101840

Title: Hb Jacksonville [alpha 2 beta 2(54)(D5)Val-->Asp]: a new unstable variant found in a patient with hemolytic anemia.

PubMed ID: 2101840

PubMed ID: 6618888

Title: Hemoglobin Jianghua [beta 120(GH3) Lys leads to Ile]: a new fast-moving variant found in China.

PubMed ID: 6618888

PubMed ID: 8330972

Title: Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden.

PubMed ID: 8330972

DOI: 10.3109/03630269308998894

PubMed ID: 7173395

Title: Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia.

PubMed ID: 7173395

DOI: 10.1016/0014-5793(82)81052-1

PubMed ID: 1634367

Title: Hb Kodaira [beta 146(HC3)His-->Gln]: a new beta chain variant with an amino acid substitution at the C-terminus.

PubMed ID: 1634367

DOI: 10.3109/03630269209005681

PubMed ID: 3744871

Title: A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu or alpha 2 beta 2 84 (EF8) Thr-->Ile.

PubMed ID: 3744871

DOI: 10.3109/03630268608996871

PubMed ID: 7693620

Title: Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family.

PubMed ID: 7693620

DOI: 10.3109/03630269308997485

PubMed ID: 3557994

Title: Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala-->Val: a new unstable hemoglobin.

PubMed ID: 3557994

DOI: 10.3109/03630268609036564

PubMed ID: 1540659

Title: Structure of the EF corner favors deamidation of asparaginyl residues in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) Leu-->His].

PubMed ID: 1540659

DOI: 10.1016/0925-4439(92)90052-o

PubMed ID: 3384708

Title: Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser-->Phe, a mildly unstable hemoglobin variant.

PubMed ID: 3384708

DOI: 10.3109/03630268808998022

PubMed ID: 3691763

Title: Hb Linkoping (beta 36 Pro-->Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish origin.

PubMed ID: 3691763

DOI: 10.1111/j.1600-0609.1987.tb01455.x

PubMed ID: 6629824

Title: Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).

PubMed ID: 6629824

DOI: 10.3109/03630268309038411

PubMed ID: 2384314

Title: Hb Matera [beta 55(D6)Met-->Lys]: a new unstable hemoglobin variant in an Italian family.

PubMed ID: 2384314

DOI: 10.3109/03630269009002256

PubMed ID: 7338468

Title: Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the isopropanol test.

PubMed ID: 7338468

DOI: 10.3109/03630268108991833

PubMed ID: 893142

Title: Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia.

PubMed ID: 893142

DOI: 10.3109/03630267709027864

PubMed ID: 1517102

Title: A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu-->Val] observed in association with HB S in an Arabian family.

PubMed ID: 1517102

DOI: 10.3109/03630269208998866

PubMed ID: 2634671

Title: Hb N-Timone [alpha 2 beta 2(8)(A5)Lys-->Glu]: a new fast-moving variant with normal stability and oxygen affinity.

PubMed ID: 2634671

DOI: 10.3109/03630268908998848

PubMed ID: 3838976

Title: A new unstable, high oxygen affinity hemoglobin: Hb Nagoya or beta 97 (FG4) His-->Pro.

PubMed ID: 3838976

DOI: 10.3109/03630268508996978

PubMed ID: 8330979

Title: Hb D-Neath or beta 121 (GH4) Glu-->Ala: a new member of the Hb D family.

PubMed ID: 8330979

DOI: 10.3109/03630269308998901

Sequence Information:

  • Length: 147
  • Mass: 15998
  • Checksum: A31F6D621C6556A1
  • Sequence:
    • MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK 
VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG 
KEFTPPVQAA YQKVVAGVAN ALAHKYH

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.