Homo sapiens Gene: HBB
Summary
InnateDB Gene IDBG-407852.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBB
Gene Name hemoglobin, beta
Synonyms beta-globin; CD113t-C;
Species Homo sapiens
Ensembl Gene ENSG00000244734
Encoded Proteins
hemoglobin, beta
hemoglobin, beta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:5225464-5229395
Strand Reverse strand
Band p15.4
Transcripts
ENST00000380315 ENSP00000369671
ENST00000335295 ENSP00000333994
ENST00000475226
ENST00000485743
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated
Total 20 [view]
Protein-Protein 17 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004601 peroxidase activity
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0030492 hemoglobin binding
GO:0031720 haptoglobin binding
Biological Process
GO:0007596 blood coagulation
GO:0008217 regulation of blood pressure
GO:0010942 positive regulation of cell death
GO:0015671 oxygen transport
GO:0015701 bicarbonate transport
GO:0030185 nitric oxide transport
GO:0042542 response to hydrogen peroxide
GO:0042744 hydrogen peroxide catabolic process
GO:0044281 small molecule metabolic process
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0050880 regulation of blood vessel size
GO:0051291 protein heterooligomerization
GO:0055114 oxidation-reduction process
GO:0070293 renal absorption
Cellular Component
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0031838 haptoglobin-hemoglobin complex
GO:0070062 extracellular vesicular exosome
GO:0071682 endocytic vesicle lumen
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
O2/CO2 exchange in erythrocytes pathway
Scavenging of heme from plasma pathway
Erythrocytes take up oxygen and release carbon dioxide pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
Erythrocytes take up carbon dioxide and release oxygen pathway
Factors involved in megakaryocyte development and platelet production pathway
Metabolism pathway
Hemostasis pathway
KEGG
African trypanosomiasis pathway
Malaria pathway
INOH
PID BIOCARTA
Hemoglobins chaperone [Biocarta view]
PID NCI
Cross-References
SwissProt P68871
TrEMBL B3VL12 B5ANL9 D5FZW3 D9YZU5 E9M263 F8W6P5 J7LKS8 K4EN30 Q0Z944 Q14484 Q6VFQ5 Q7Z2K5 Q86VF0 Q9BXA2 Q9GZL9 Q9H1I6
UniProt Splice Variant
Entrez Gene 3043
UniGene
RefSeq NM_000518
HUGO HGNC:4827
OMIM 141900
CCDS CCDS7753
HPRD 00786
IMGT
EMBL AC104389 AF007546 AF083883 AF117710 AF181989 AF186606 AF186608 AF186609 AF186610 AF186611 AF186612 AF186613 AF186615 AF186616 AF186617 AF186618 AF186619 AF186620 AF348448 AF349114 AF527577 AJ871593 AK311825 AY013299 AY013301 AY013302 AY136510 AY163866 AY260740 AY264346 AY310318 AY341056 AY509193 BC007075 CH471064 CR536530 CR541913 DQ118155 DQ126270 DQ126271 DQ126272 DQ126273 DQ126274 DQ126275 DQ126276 DQ126277 DQ126278 DQ126279 DQ126280 DQ126281 DQ126282 DQ126283 DQ126284 DQ126285 DQ126286 DQ126287 DQ126288 DQ126289 DQ126290 DQ126291 DQ126292 DQ126293 DQ126294 DQ126295 DQ126296 DQ126297 DQ126298 DQ126299 DQ126300 DQ126301 DQ126302 DQ126303 DQ126304 DQ126305 DQ126306 DQ126307 DQ126308 DQ126309 DQ126310 DQ126311 DQ126312 DQ126313 DQ126314 DQ126315 DQ126316 DQ126317 DQ126318 DQ126319 DQ126320 DQ126321 DQ126322 DQ126323 DQ126324 DQ126325 DQ659148 EF450778 EU694432 EU760912 EU760913 EU760915 EU760916 EU760918 EU760919 EU760920 EU760922 EU760923 EU760924 EU760925 EU760926 EU760928 EU760929 EU760930 EU760931 EU760932 EU760933 EU760934 EU760935 EU760936 EU760937 EU760940 EU760941 EU760942 EU760943 EU760944 EU760945 EU760946 EU760947 EU760948 EU760949 EU760952 EU760954 EU760955 EU760957 EU760958 EU760960 EU863596 FJ876835 FJ876836 GU324922 HQ174213 JN613430 JX440362 JX645479 JX645480 L26462 L26463 L26464 L26465 L26466 L26467 L26468 L26469 L26470 L26471 L26472 L26473 L26474 L26475 L26476 L26477 L26478 L48213 L48214 L48215 L48216 L48217 L48932 M11428 M25079 M25113 M25660 M36640 U01317 V00497 V00499 V00500
GenPept AAA16334 AAA21100 AAA21101 AAA21102 AAA21103 AAA21104 AAA21105 AAA21106 AAA21107 AAA21108 AAA21109 AAA21110 AAA21111 AAA21112 AAA21113 AAA21114 AAA21115 AAA21116 AAA35597 AAA35966 AAA52633 AAA52634 AAA53153 AAA88054 AAA88059 AAA88061 AAA88063 AAA88065 AAA88067 AAB62944 AAD19696 AAF00489 AAF08258 AAF08260 AAF08261 AAF08262 AAF08263 AAF08264 AAF08265 AAF08267 AAF08268 AAF08269 AAF08270 AAF08271 AAF08272 AAG46182 AAG46184 AAG46185 AAH07075 AAK29639 AAK30154 AAL68978 AAM92001 AAN11320 AAN84548 AAP03091 AAP21062 AAP74754 AAQ24848 AAR96398 AAZ30391 AAZ39745 AAZ39746 AAZ39747 AAZ39748 AAZ39749 AAZ39750 AAZ39751 AAZ39752 AAZ39753 AAZ39754 AAZ39755 AAZ39756 AAZ39757 AAZ39758 AAZ39759 AAZ39760 AAZ39761 AAZ39762 AAZ39763 AAZ39764 AAZ39765 AAZ39766 AAZ39767 AAZ39768 AAZ39769 AAZ39770 AAZ39771 AAZ39772 AAZ39773 AAZ39774 AAZ39775 AAZ39776 AAZ39777 AAZ39778 AAZ39779 AAZ39780 AAZ39781 AAZ39782 AAZ39783 AAZ39784 AAZ39785 AAZ39786 AAZ39787 AAZ39788 AAZ39789 AAZ39790 AAZ39791 AAZ39792 AAZ39793 AAZ39794 AAZ39795 AAZ39796 AAZ39797 AAZ39798 AAZ39799 AAZ39800 ABG47031 ABO36678 ACD39349 ACF16747 ACF16748 ACF16750 ACF16751 ACF16753 ACF16754 ACF16755 ACF16757 ACF16758 ACF16759 ACF16760 ACF16761 ACF16763 ACF16764 ACF16765 ACF16766 ACF16767 ACF16768 ACF16769 ACF16770 ACF16771 ACF16772 ACF16775 ACF16776 ACF16777 ACF16778 ACF16779 ACF16780 ACF16781 ACF16782 ACF16783 ACF16784 ACF16787 ACF16789 ACF16790 ACF16792 ACF16793 ACF16795 ACF93730 ACZ67952 ACZ67953 ADL14493 ADW79453 AEQ28038 AFR11469 AFV63186 AFV63187 BAG34767 CAA23756 CAA23758 CAA23759 CAG38767 CAG46711 CAI40296 EAW68806
RNA Seq Atlas 3043