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The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Beta-Thalassemia and Sickle Cell Anemia. Among its related pathways are Folate Metabolism and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004601 | contributes_to peroxidase activity | IDA | 19740759 |
GO:0005344 | oxygen carrier activity | IEA,NAS | 1301199 |
GO:0005515 | protein binding | IPI | 1552945 |
GO:0019825 | oxygen binding | IEA,IDA | 11747442 |
GO:0020037 | heme binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 21805676 |
GO:0005829 | cytosol | TAS | -- |
GO:0005833 | hemoglobin complex | IEA,TAS | 1540659 |
GO:0031838 | haptoglobin-hemoglobin complex | IBA,IDA | 19740759 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | O2/CO2 exchange in erythrocytes | ||
2 | Innate Immune System |
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|
3 | Folate Metabolism | ||
4 | Binding and Uptake of Ligands by Scavenger Receptors | ||
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006898 | receptor-mediated endocytosis | TAS | -- |
GO:0007596 | blood coagulation | TAS | -- |
GO:0008217 | regulation of blood pressure | IEA | -- |
GO:0010942 | positive regulation of cell death | IDA | 19740759 |
GO:0015671 | oxygen transport | IEA,TAS | 1540659 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Oxygen | Approved, Vet_approved | Pharma | Carrier, binder | 0 | ||
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
Nitric Oxide | Approved | Pharma | 771 | |||
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Ferric pyrophosphate citrate | Approved, Investigational | Pharma | Target, binder | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HBB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC609402 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | HBB 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Hbb 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hbb-bt 30 17 31 |
|
ManyToMany | |
Hbb-bs 17 31 |
|
ManyToMany | |||
Hbb-bh2 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | HBB 31 |
|
ManyToMany | |
HBE1 31 |
|
ManyToMany | |||
HBE 31 |
|
ManyToMany | |||
HBG1 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | LOC397871 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.8573 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hbaa1 31 31 |
|
ManyToMany | |
si:ch211-5k11.6 31 |
|
ManyToMany | |||
hbz 31 |
|
ManyToMany | |||
hbae3 31 |
|
ManyToMany | |||
si:ch211-5k11.2 31 |
|
ManyToMany | |||
hbae1 31 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
15544 | Other: HEMOGLOBIN HAKKARI | 5,226,797(-) | A/C | MISSENSE_VARIANT | |
15616 | Pathogenic: Beta-plus-thalassemia | 5,225,488(-) | A/T | THREE_PRIME_UTR_VARIANT | |
38701 | Pathogenic: beta Thalassemia | 5,225,388(-) | TTCTTTATGTTTTAAA | SPLICE_ACCEPTOR_VARIANT | |
38702 | Pathogenic: beta Thalassemia | 5,226,162(-) | ATTATGTATCAATTAA | ||
660167 | Pathogenic: not provided | 5,225,465(-) | TGCAATGAAAATAAAT | SPLICE_ACCEPTOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1041n100 | CNV | loss | 25217958 |
dgv183e214 | CNV | loss | 21293372 |
esv3625214 | CNV | loss | 21293372 |
esv3625215 | CNV | loss | 21293372 |
esv3891916 | CNV | loss | 25118596 |
esv3891917 | CNV | loss | 25118596 |
esv3891918 | CNV | loss | 25118596 |
nsv1036997 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
beta-thalassemia |
|
|
sickle cell anemia |
|
|
beta-thalassemia, dominant inclusion body type |
|
|
fetal hemoglobin quantitative trait locus 1 |
|
|
heinz body anemias |
|