|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:beta-globin_gene
gptkb:hemoglobin_beta_gene
|
|
gptkbp:alternativeSplicing
|
no
|
|
gptkbp:associatedWith
|
gptkb:beta-thalassemia
sickle cell disease
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:component
|
gptkb:hemoglobin_A
gptkb:hemoglobin_C
gptkb:hemoglobin_E
gptkb:hemoglobin_S
|
|
gptkbp:encodes
|
beta-globin
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:rs334
gptkb:ENSG00000244734
3043
|
|
gptkbp:expressedIn
|
adult stage
erythroid cells
|
|
gptkbp:firstDescribed
|
1950s
|
|
gptkbp:fullName
|
hemoglobin subunit beta
|
|
gptkbp:function
|
oxygen transport
|
|
gptkbp:HGNC_ID
|
4827
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HBB gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:intronCount
|
2
|
|
gptkbp:length
|
1.6 kb
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
11p15.4
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
|
|
gptkbp:mutationExample
|
gptkb:Codon_39_nonsense_(beta-thalassemia)
gptkb:Glu6Val_(sickle_cell)
|
|
gptkbp:neighboringGene
|
gptkb:HBG1
gptkb:HBG2
gptkb:HBZ
gptkb:HBE1
HBD
|
|
gptkbp:notExpressedDuring
|
embryonic stage
fetal stage
|
|
gptkbp:numberOfExons
|
3
|
|
gptkbp:OMIM
|
141900
|
|
gptkbp:orthologInMouse
|
gptkb:Hbb
gptkb:Hbb-b1
|
|
gptkbp:product
|
hemoglobin beta chain
|
|
gptkbp:proteinFamily
|
gptkb:globin_gene_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
gptkb:BCL11A
gptkb:GATA1
gptkb:KLF1
|
|
gptkbp:UniProtID
|
P68871
|
|
gptkbp:bfsParent
|
gptkb:hemoglobin
|
|
gptkbp:bfsLayer
|
5
|