• Gene id: 3045

Gene Summary

• Gene Symbol: HBD   Gene   UCSC   Ensembl
• Gene name: hemoglobin subunit delta
• Alternate names: hemoglobin subunit delta, delta globin, delta-globin chain, hemoglobin delta chain, hemoglobin, delta,
• Gene location: 11p15.4 (5234482: 5232837)     Exons: 3     NC_000011.10
• Gene summary(Entrez): The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2
• OMIM: 142000

Protein Summary

• Protein general information: P02042  
  • Name: Hemoglobin subunit delta (Delta globin) (Hemoglobin delta chain)
  • Length: 147  
  • Mass: 16055
  • Tissue specificity: Red blood cells.
• Sequence:

  MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDG
  LAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

• Structural information:
  • Interpro: IPR000971  IPR009050  IPR012292  IPR002337  
  • Prosite: PS01033
  • CDD: cd08925
  • PDB: 1SHR 1SI4
  • PDBsum: 1SHR 1SI4
  • STRING: ENSP00000369654
• Other Databases: GeneCards:  HBD  Malacards:  HBD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004601	peroxidase activity	IBA	contributes to
GO:0005344	oxygen carrier activity	IBA	molecular function
GO:0005833	hemoglobin complex	IBA	cellular component
GO:0020037	heme binding	IBA	molecular function
GO:0031721	hemoglobin alpha binding	IBA	molecular function
GO:0043177	organic acid binding	IBA	molecular function
GO:0019825	oxygen binding	IBA	molecular function
GO:0031720	haptoglobin binding	IBA	contributes to
GO:0031838	haptoglobin-hemoglobin complex	IBA	cellular component
GO:0042744	hydrogen peroxide catabolic process	IBA	biological process
GO:0005833	hemoglobin complex	IEA	cellular component
GO:0020037	heme binding	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0019825	oxygen binding	IEA	molecular function
GO:0005344	oxygen carrier activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0005833	hemoglobin complex	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0072562	blood microparticle	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)