Details for: HBD

Gene ID: 3045

Symbol: HBD

Ensembl ID: ENSG00000223609

Description: hemoglobin subunit delta

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: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.4
    Marker Score: 2416
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.28
    Marker Score: 409
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7689
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.04
    Marker Score: 2648
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71836
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48061
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5355
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.88
    Marker Score: 433
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.87
    Marker Score: 1420
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.86
    Marker Score: 658
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.77
    Marker Score: 287
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.76
    Marker Score: 517
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.66
    Marker Score: 690
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 476
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.57
    Marker Score: 282
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.51
    Marker Score: 135
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.4
    Marker Score: 139
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.36
    Marker Score: 244
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.34
    Marker Score: 194
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.33
    Marker Score: 173
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.32
    Marker Score: 165
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.32
    Marker Score: 239
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.29
    Marker Score: 219
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.22
    Marker Score: 44
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.22
    Marker Score: 111
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.21
    Marker Score: 96
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.21
    Marker Score: 94.5
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.2
    Marker Score: 113
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.18
    Marker Score: 133
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.18
    Marker Score: 51
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.18
    Marker Score: 87
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.17
    Marker Score: 137
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 0.16
    Marker Score: 69
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.16
    Marker Score: 99
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.15
    Marker Score: 218
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.15
    Marker Score: 152
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.14
    Marker Score: 96
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.14
    Marker Score: 153
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.13
    Marker Score: 82
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.13
    Marker Score: 327
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.12
    Marker Score: 54
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.12
    Marker Score: 64
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.12
    Marker Score: 90
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.11
    Marker Score: 64
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.1
    Marker Score: 42
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.1
    Marker Score: 63
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.1
    Marker Score: 81
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.09
    Marker Score: 98
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.09
    Marker Score: 59
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.09
    Marker Score: 39
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.08
    Marker Score: 41
  • Cell Name: eosinophil (CL0000771)
    Fold Change: 0.08
    Marker Score: 27
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.08
    Marker Score: 82
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.08
    Marker Score: 157
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.08
    Marker Score: 114
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.08
    Marker Score: 33
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.08
    Marker Score: 80
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.07
    Marker Score: 117
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 0.07
    Marker Score: 75
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.07
    Marker Score: 65
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.07
    Marker Score: 766
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.06
    Marker Score: 32
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.06
    Marker Score: 37
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.06
    Marker Score: 38
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.06
    Marker Score: 21
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.06
    Marker Score: 50
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.05
    Marker Score: 33
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.05
    Marker Score: 36
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.05
    Marker Score: 108.5
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.05
    Marker Score: 20
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.05
    Marker Score: 124
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.05
    Marker Score: 21
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.05
    Marker Score: 41
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.05
    Marker Score: 108
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.05
    Marker Score: 31
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.05
    Marker Score: 13
  • Cell Name: vasa recta descending limb cell (CL1001285)
    Fold Change: 0.05
    Marker Score: 13
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.05
    Marker Score: 14
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.05
    Marker Score: 35
  • Cell Name: basophil mast progenitor cell (CL0002028)
    Fold Change: 0.05
    Marker Score: 14
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.04
    Marker Score: 286
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.04
    Marker Score: 108
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.04
    Marker Score: 34
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.04
    Marker Score: 14
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.04
    Marker Score: 37
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.04
    Marker Score: 14

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Other Information

**Key characteristics:** - The HBD gene is located on chromosome 15q21.1. - It is a single-exon gene encoding a protein of 143 amino acids. - The protein is a component of the haemoglobin protein complex. - It is expressed in high levels in red blood cells. **Pathways and functions:** - The HBD gene is involved in the oxygen transport pathway. - It is a key regulator of red blood cell production. - It is also involved in the regulation of inflammation and immune responses. **Clinical significance:** - Mutations in the HBD gene can lead to the formation of abnormal hemoglobin variants, which can cause a number of blood disorders. - These disorders include sickle cell anemia, thalassemia, and other blood disorders. - Gene therapy approaches to correct mutations in the HBD gene are being investigated as a potential treatment for these disorders. **Additional points:** - The HBD gene is also involved in the regulation of iron metabolism. - It is a key regulator of the immune response. - Mutations in the HBD gene have been linked to an increased risk of developing cancer.

Genular Protein ID: 679129080

Symbol: HBD_HUMAN

Name: Hemoglobin subunit delta

UniProtKB Accession Codes:

P02042 Q3Y5H3 Q8WXT7

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 1 DNASU 1 DisGeNET 1 EMBL 23 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 2 PIR 1 PRINTS 1 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 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7438204

Title: Complete nucleotide sequence of the human delta-globin gene.

PubMed ID: 7438204

DOI: 10.1016/0092-8674(80)90427-4

PubMed ID: 16370491

Title: The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family.

PubMed ID: 16370491

DOI: 10.1080/03630260500310828

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: 680638

Title: Hemoglobins, XXIII. Note on the sequence of the delta-chains of human hemoglobin.

PubMed ID: 680638

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: 15449937

Title: Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb.

PubMed ID: 15449937

DOI: 10.1021/bi048903i

PubMed ID: 5956309

Title: Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine.

PubMed ID: 5956309

DOI: 10.1038/2091217a0

PubMed ID: 5678016

Title: Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.

PubMed ID: 5678016

DOI: 10.1038/2191360a0

PubMed ID: 5824070

Title: Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys.

PubMed ID: 5824070

DOI: 10.1172/jci106171

PubMed ID: 4995018

Title: Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg.

PubMed ID: 4995018

DOI: 10.1016/0005-2795(71)90192-9

PubMed ID: 4850239

Title: A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2).

PubMed ID: 4850239

DOI: 10.1016/0005-2795(74)90218-9

PubMed ID: 1148221

Title: Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).

PubMed ID: 1148221

DOI: 10.1016/0005-2795(75)90065-3

PubMed ID: 952968

Title: Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.

PubMed ID: 952968

DOI: 10.1016/0005-2795(76)90089-1

PubMed ID: 7129931

Title: Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.

PubMed ID: 7129931

DOI: 10.3109/03630268208991698

PubMed ID: 6629825

Title: Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.

PubMed ID: 6629825

DOI: 10.3109/03630268309038412

PubMed ID: 6629826

Title: Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia.

PubMed ID: 6629826

DOI: 10.3109/03630268309038413

PubMed ID: 6469695

Title: HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant occurring with beta-thalassemia.

PubMed ID: 6469695

DOI: 10.3109/03630268408991709

PubMed ID: 6548205

Title: Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain variant.

PubMed ID: 6548205

DOI: 10.3109/03630268408991715

PubMed ID: 2869009

Title: Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta chain variant.

PubMed ID: 2869009

DOI: 10.3109/03630268508997040

PubMed ID: 3841531

Title: Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain variant found in a Japanese family.

PubMed ID: 3841531

DOI: 10.3109/03630268508997042

PubMed ID: 2477064

Title: Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.

PubMed ID: 2477064

DOI: 10.1016/0167-4781(89)90083-3

PubMed ID: 1742490

Title: Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

PubMed ID: 1742490

PubMed ID: 1787103

Title: Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant found in the Japanese population.

PubMed ID: 1787103

DOI: 10.3109/03630269109027889

PubMed ID: 1802883

Title: Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain variant.

PubMed ID: 1802883

DOI: 10.3109/03630269108998860

PubMed ID: 2066116

Title: A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek family.

PubMed ID: 2066116

DOI: 10.1007/bf00204193

PubMed ID: 8364213

Title: Analysis of delta-globin gene mutations in Greek cypriots.

PubMed ID: 8364213

PubMed ID: 8330984

Title: Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.

PubMed ID: 8330984

DOI: 10.3109/03630269308998907

PubMed ID: 8401543

Title: A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.

PubMed ID: 8401543

DOI: 10.1002/humu.1380020417

PubMed ID: 7713748

Title: Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta chain variant identified by sequencing of amplified DNA.

PubMed ID: 7713748

DOI: 10.3109/03630269409045776

PubMed ID: 8537235

Title: Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family.

PubMed ID: 8537235

DOI: 10.3109/03630269509005818

PubMed ID: 9101295

Title: Delta-thalassemic phenotype due to two 'novel' delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].

PubMed ID: 9101295

DOI: 10.1002/(sici)1098-1004(1997)9:4<344::aid-humu7>3.0.co;2-5

PubMed ID: 11939506

Title: Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily.

PubMed ID: 11939506

DOI: 10.1081/hem-120002934

PubMed ID: 12402333

Title: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.

PubMed ID: 12402333

DOI: 10.1002/humu.10132

PubMed ID: 15921167

Title: Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of the delta-globin gene.

PubMed ID: 15921167

DOI: 10.1081/hem-58593

PubMed ID: 16370490

Title: Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].

PubMed ID: 16370490

DOI: 10.1080/03630260500310794

PubMed ID: 17145605

Title: Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.

PubMed ID: 17145605

Sequence Information:

  • Length: 147
  • Mass: 16055
  • Checksum: F86BA4A09A57BB05
  • Sequence:
    • MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK 
VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG 
KEFTPQMQAA 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.