|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NR1A2
gptkb:c-erbA-beta
ERBA2
|
|
gptkbp:alternativeSplicing
|
produces multiple transcript variants
|
|
gptkbp:associatedWith
|
gptkb:thyroid_hormone_resistance_syndrome
hearing loss
|
|
gptkbp:biologicalProcess
|
gptkb:thyroid_hormone_signaling_pathway
cell differentiation
regulation of transcription
DNA binding
transcription factor activity
metabolic process
hormone binding
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Vennstrom et al.
|
|
gptkbp:discoveredIn
|
1984
|
|
gptkbp:encodes
|
gptkb:thyroid_hormone_receptor_beta_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000151090
7068
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
heart
liver
|
|
gptkbp:fullName
|
gptkb:thyroid_hormone_receptor_beta
|
|
gptkbp:function
|
regulates gene expression in response to thyroid hormone
nuclear hormone receptor for triiodothyronine (T3)
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:11797
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
THRB
|
|
gptkbp:length
|
10 exons
|
|
gptkbp:locatedOnChromosome
|
3p24.2
|
|
gptkbp:mutationAssociatedWith
|
can cause abnormal development
can cause resistance to thyroid hormone
|
|
gptkbp:OMIM
|
190160
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Thrb
|
|
gptkbp:proteinFamily
|
nuclear receptor subfamily 1 group A member 2
|
|
gptkbp:regulates
|
gptkb:judge
development
growth
lipid metabolism
metabolism
cholesterol metabolism
thermogenesis
cardiac function
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
P10828
|
|
gptkbp:bfsParent
|
gptkb:THR5
|
|
gptkbp:bfsLayer
|
7
|