|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
beta chain of hemoglobin
beta-globin
hemoglobin beta chain
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:beta-thalassemia
sickle cell disease
|
|
gptkbp:biologicalProcess
|
oxygen transport
oxygen binding
|
|
gptkbp:cellularComponent
|
gptkb:hemoglobin_complex
|
|
gptkbp:discoveredBy
|
Max Perutz (structure of hemoglobin)
|
|
gptkbp:encodes
|
beta-globin protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000244734
3043
|
|
gptkbp:expressedIn
|
erythrocytes
|
|
gptkbp:fullName
|
hemoglobin subunit beta
|
|
gptkbp:function
|
oxygen transport
|
|
gptkbp:hasTranscriptVariant
|
NM_000518.5
|
|
gptkbp:HGNC_ID
|
4827
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HBB (human)
|
|
gptkbp:intronCount
|
2
|
|
gptkbp:length
|
147 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
11p15.4
|
|
gptkbp:mutationAssociatedWith
|
hemoglobinopathies
|
|
gptkbp:numberOfExons
|
3
|
|
gptkbp:OMIM
|
141900
|
|
gptkbp:orthologInMouse
|
gptkb:Hbb-b1
|
|
gptkbp:product
|
hemoglobin beta chain
|
|
gptkbp:proteinFamily
|
gptkb:globin_gene_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P68871
|
|
gptkbp:bfsParent
|
gptkb:Hbb
|
|
gptkbp:bfsLayer
|
7
|