• Gene id: 3043

Gene Summary

• Gene Symbol: HBB   Gene   UCSC   Ensembl
• Aliases: CD113t-C, ECYT6, beta-globin
• Gene name: hemoglobin subunit beta
• Alternate names: hemoglobin subunit beta, beta globin chain, hemoglobin beta subunit, hemoglobin, beta,
• Gene location: 11p15.4 (5227070: 5225463)     Exons: 9     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 141900

Protein Summary

• Protein general information: P68871  
  • Name: Hemoglobin subunit beta (Beta globin) (Hemoglobin beta chain) [Cleaved into: LVV hemorphin 7; Spinorphin]
  • Length: 147  
  • Mass: 15998
  • Tissue specificity: Red blood cells. {ECO
• Sequence:

  MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDG
  LAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

• Structural information:
  • Interpro: IPR000971  IPR009050  IPR012292  IPR002337  
  • Prosite: PS01033
  • CDD: cd08925
  • PDB: 1A00 1A01 1A0U 1A0Z 1A3N 1A3O 1ABW 1ABY 1AJ9 1B86 1BAB 1BBB 1BIJ 1BUW 1BZ0 1BZ1 1BZZ 1C7B 1C7C 1C7D 1CBL 1CBM 1CH4 1CLS 1CMY 1COH 1DKE 1DXT 1DXU 1DXV 1FN3 1G9V 1GBU 1GBV 1GLI 1GZX 1HAB 1HAC 1HBA 1HBB 1HBS 1HCO 1HDB 1HGA 1HGB 1HGC 1HHO 1IRD 1J3Y 1J3Z 1J40 1J41 1J7S 1J7W 1J7Y 1JY7 1K0Y 1K1K 1KD2 1LFL 1LFQ 1LFT 1LFV 1LF
  • PDBsum: 1A00 1A01 1A0U 1A0Z 1A3N 1A3O 1ABW 1ABY 1AJ9 1B86 1BAB 1BBB 1BIJ 1BUW 1BZ0 1BZ1 1BZZ 1C7B 1C7C 1C7D 1CBL 1CBM 1CH4 1CLS 1CMY 1COH 1DKE 1DXT 1DXU 1DXV 1FN3 1G9V 1GBU 1GBV 1GLI 1GZX 1HAB 1HAC 1HBA 1HBB 1HBS 1HCO 1HDB 1HGA 1HGB 1HGC 1HHO 1IRD 1J3Y 1J3Z 1J40 1J41 1J7S 1J7W 1J7Y 1JY7 1K0Y 1K1K 1KD2 1LFL 1LFQ 1LFT 1LFV 1LF
  • DIP: 35526
  • STRING: ENSP00000333994
• Other Databases: GeneCards:  HBB  Malacards:  HBB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0019825	oxygen binding	IDA	molecular function
GO:0030492	hemoglobin binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0070293	renal absorption	IMP	biological process
GO:0005833	hemoglobin complex	TAS	cellular component
GO:0005833	hemoglobin complex	NAS	cellular component
GO:0005344	oxygen carrier activity	NAS	molecular function
GO:0005344	oxygen carrier activity	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045429	positive regulation of nitric oxide biosynthetic process	NAS	biological process
GO:0030185	nitric oxide transport	NAS	biological process
GO:0072562	blood microparticle	HDA	cellular component
GO:0070293	renal absorption	IMP	biological process
GO:0005833	hemoglobin complex	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0015671	oxygen transport	TAS	biological process
GO:0015671	oxygen transport	NAS	biological process
GO:0015671	oxygen transport	NAS	biological process
GO:0070527	platelet aggregation	HMP	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:0008217	regulation of blood pressure	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0043177	organic acid binding	IBA	molecular function
GO:0031721	hemoglobin alpha binding	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0005833	hemoglobin complex	IBA	cellular component
GO:0005344	oxygen carrier activity	IBA	molecular function
GO:0004601	peroxidase activity	IBA	contributes to
GO:0042744	hydrogen peroxide catabolic process	IBA	biological process
GO:0031838	haptoglobin-hemoglobin complex	IBA	cellular component
GO:0031720	haptoglobin binding	IBA	contributes to
GO:0019825	oxygen binding	IBA	molecular function
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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: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: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: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:0004601	peroxidase activity	IDA	contributes to
GO:0031720	haptoglobin binding	IDA	contributes to
GO:0005833	hemoglobin complex	IDA	cellular component
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0031838	haptoglobin-hemoglobin complex	IDA	cellular component
GO:0042542	response to hydrogen peroxide	IDA	biological process
GO:0042744	hydrogen peroxide catabolic process	IDA	biological process
GO:0019825	oxygen binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05144	Malaria
hsa05143	African trypanosomiasis

Diseases

Associated diseases	References
Thalassemia	KEGG:H00228
Sickle cell anemia	KEGG:H00229
Thalassemia	KEGG:H00228
Sickle cell anemia	KEGG:H00229
Heinz body anemia	PMID:2599881
Sickle cell anemia	PMID:6304979
Alpha thalassemia	PMID:14555303
Beta thalassemia	PMID:16631345
Beta thalassemia	PMID:3033668
Beta thalassemia	PMID:6457059
Beta thalassemia	PMID:6280057
Parkinson's disease	PMID:24333691
Acute chest syndrome	PMID:23952145
Hemoglobin C disease	PMID:2239966
Hemoglobinopathy	PMID:24930900
Congenital hemolytic anemia	PMID:1520632
Polycythemia	PMID:4719677
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)