Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
no
|
gptkbp:associatedWith |
gptkb:beta-thalassemia
sickle cell disease |
gptkbp:encodes |
beta-globin protein
|
gptkbp:Entrez_Gene_ID |
3043
|
gptkbp:expressedIn |
erythroid cells
|
gptkbp:hasIntrons |
2
|
gptkbp:HGNC_ID |
4827
|
https://www.w3.org/2000/01/rdf-schema#label |
beta-globin gene
|
gptkbp:locatedOn |
chromosome 11
|
gptkbp:mutationAssociatedWith |
hemoglobinopathies
|
gptkbp:numberOfExons |
3
|
gptkbp:OMIM |
141900
|
gptkbp:orthologInMouse |
gptkb:Hbb-b1
|
gptkbp:partOf |
gptkb:hemoglobin_complex
|
gptkbp:regulates |
locus control region (LCR)
|
gptkbp:symbol |
gptkb:HBB
|
gptkbp:transcribedBy |
gptkb:RNA_polymerase_II
|
gptkbp:transcriptionStartSite |
chromosome 11:5,225,464 (GRCh38)
|
gptkbp:UniProtID |
P68871
|
gptkbp:bfsParent |
gptkb:HBB_gene
gptkb:hemoglobin_C gptkb:hemoglobin_E |
gptkbp:bfsLayer |
6
|