HBB (hemoglobin subunit beta)

2007-02-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CD113t-C,ECYT6,beta-globin
FUSION GENES

Other Information

Locus ID:

NCBI: 3043
MIM: 141900
HGNC: 4827
Ensembl: ENSG00000244734

Variants:

dbSNP: 3043
ClinVar: 3043
TCGA: ENSG00000244734
COSMIC: HBB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244734ENST00000335295P68871
ENSG00000244734ENST00000335295D9YZU5
ENSG00000244734ENST00000380315F8W6P5
ENSG00000244734ENST00000485743A0A2R8Y7R2
ENSG00000244734ENST00000633227A0A0J9YWK4
ENSG00000244734ENST00000647020P68871
ENSG00000244734ENST00000647020D9YZU5

Expression (GTEx)

0
50000
100000
150000
200000
250000
300000

Pathways

PathwaySourceExternal ID
MalariaKEGGko05144
MalariaKEGGhsa05144
African trypanosomiasisKEGGko05143
African trypanosomiasisKEGGhsa05143
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging of heme from plasmaREACTOMER-HSA-2168880
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166189802voxelotorChemicalLabelAnnotationassociated
PA166190001luspatercept-aamtChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
193723762009Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.299
186676982008DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.175
119652792002Protective effects of the sickle cell gene against malaria morbidity and mortality.173
218810512011Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease.136
206760972010KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching.129
107915572000Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.104
220757262011Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
159734122005Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria.83
164185312006Coregulated human globin genes are frequently in spatial proximity when active.75

Citation

Dessen P

HBB (hemoglobin subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45833/hbb