THRB

GPTKB entity

Statements (50)
Predicate Object
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