HBD - hemoglobin subunit delta Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3045

About HBD

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,232,838-5,234,483 (from NCBI)

This gene has 5 transcripts (splice variants), 526 orthologues, 11 paralogues and is associated with 2 phenotypes.

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]

HBD Products (1)

mRNA	Protein	Name
NM_000519.4	NP_000510.1	hemoglobin subunit delta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in oxygen transport	IDA IDA: Inferred from direct assay	11307949	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of hemoglobin complex	IPI IPI: Inferred from physical interaction	15449937	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HBD Protein Structure

Globin

0
100
147 a.a.

Protein Preferred Names	Protein Names
hemoglobin subunit delta	delta globin

HBD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HBD	P02042	HBQ1	Homo sapiens	P09105	Y2H Array	32296183
Intra	HBD	P02042	HBQ1	Homo sapiens	P09105	Y2H Prey Pooling	25416956
Intra	HBD	P02042	HBQ1	Homo sapiens	P09105	Y2H Prey Pooling	32296183
Intra	HBD	P02042	HBQ1	Homo sapiens	P09105	Validated Y2H	32296183
Intra	HBD	P02042	HBA1	Homo sapiens	P69905	Y2H Prey Pooling	32296183
Intra	HBD	P02042	HBA1	Homo sapiens	P69905	Validated Y2H	32296183
Intra	HBD	P02042	HBA1	Homo sapiens	P69905	Y2H Array	32296183
Intra	HBD	P02042	HBZ	Homo sapiens	P02008	Y2H Array	32296183
Intra	HBD	P02042	HBZ	Homo sapiens	P02008	Y2H Prey Pooling	32296183
Intra	HBD	P02042	NME4	Homo sapiens	O00746	Y2H Array	32814053
Intra	HBD	P02042	NME4	Homo sapiens	O00746	Y2H Pooling	32814053
Intra	HBD	P02042	NME4	Homo sapiens	O00746	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hemoglobin Lepore-Beta-Thalassemia Syndrome	Hblepore-Beta-Thalassemia Syndrome Lepore-Beta-Thalassemia Syndrome
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Middle Lobe Syndrome
Hemoglobin D Disease	Hb-D Disease Punjab Disease Los Angeles Disease Hb D Los Angeles Disease Hb D Punjab Disease
Sickle Cell Disease	Hbs Disease Hemoglobin S Disease Scd Sickle Cell Disorders Sickling Disorder Due To Hemoglobin S Anemia, Sickle Cell Hb-Ss Disease Without Crisis Hbss Without Crisis Sickle-Cell Anaemia Without Crisis Scd - [Sickle Cell Disease] Sca - [Sickle Cell Anaemia] Sickle Cell Disease Nos Sickle Cell Disorder Sickle Cell Syndrome Sickle-Cell Anaemia Nos Sickle-Cell Disorder Nos Haemoglobin S Disease Haemoglobin Ss Disease Hb S Disease Hb Ss Disease Herrick Anaemia Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S Sickle-Cell Haemoglobin Disease Sickling Disorder Due To Haemoglobin S Hb-Ss Disease With Crisis Sickle Cell Crisis Sickle-Cell Disorder With Crisis Sickle-Cell Anaemia With Crisis Hbss With Crisis Hb S Disease With Mention Of Crisis Haemoglobin Ss Disease With Crisis Hb-Ss Disease With Vaso-Occlusive Pain Vaso-Occlusive Crisis
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Hemoglobin C Disease	Hb C Disease Hemoglobin C Hb-C Disease
Gastrojejunal Ulcer	Acute Gastrojejunal Ulcer With Hemorrhage Acute Gastrojejunal Ulcer With Hemorrhage And Obstruction Acute Gastrojejunal Ulcer With Hemorrhage And Perforation Acute Gastrojejunal Ulcer With Hemorrhage And Perforation, With Obstruction Acute Gastrojejunal Ulcer With Hemorrhage, With Perforation And With Obstruction Acute Gastrojejunal Ulcer With Perforation Acute Gastrojejunal Ulcer With Perforation And Obstruction Acute Gastrojejunal Ulcer With Perforation, With Obstruction Acute Gastrojejunal Ulcer Without Hemorrhage And Without Perforation Acute Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction Acute Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction Acute Gastrojejunal Ulcer, With Hemorrhage, With Obstruction Chronic Gastrojejunal Ulcer Without Hemorrhage And Without Perforation Chronic Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction Chronic Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction Marginal Ulcer
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Thalassemia Minor
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Hemoglobinopathy	Hemoglobinopathies
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Deficiency Anemia	Anemia Deficiency Anemias Anaemia