Homo sapiens Gene: HBD
Summary
InnateDB Gene IDBG-298872.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBD
Gene Name hemoglobin, delta
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000223609
Encoded Proteins
hemoglobin, delta
hemoglobin, delta
hemoglobin, delta
hemoglobin, delta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]
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, which with HbF comprises the remaining 3%% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5\'-epsilon--Ggamma--Agamma--delta--beta-3\'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:5232678-5235370
Strand Reverse strand
Band p15.4
Transcripts
ENST00000292901 ENSP00000292901
ENST00000380299 ENSP00000369654
ENST00000417377 ENSP00000414741
ENST00000429817 ENSP00000393810
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0019825 oxygen binding
GO:0020037 heme binding
Biological Process
GO:0007596 blood coagulation
GO:0015671 oxygen transport
Cellular Component
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Factors involved in megakaryocyte development and platelet production pathway
Hemostasis pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.699280
RefSeq NM_000519
HUGO
OMIM
CCDS CCDS31376
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas