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thyroid hormone receptor beta; nuclear receptor subfamily 1 group A member 2 (THRB, ERBA2, NR1A2, THR1)
Function:
- high affinity receptor for triiodothyronine (T3)
- interacts with NOCA7 in a ligand-inducible manner
- interacts with C1D (putative)
Structure:
1) composed of three domains:
a) modulating N-terminal domain
b) DNA-binding domain
c) C-terminal steroid-binding domain
2) belongs to the nuclear hormone receptor family, NR1 subfamily
3) contains 1 nuclear receptor DNA-binding domain
Compartment: nucleus
Alternative splicing: named isoforms=2
Pathology:
- defects in THRB are the cause of:
a) generalized thyroid hormone resistance
b) selective pituitary thyroid hormone resistance
Laboratory:
- THRB gene mutation
Related
erbA2 proto-oncogene or thyroid hormone [T3] receptor gene
syndrome of thyroid hormone resistance; generalized thyroid hormone resistance; Refetoff syndrome
THRB gene mutation
Specific
t3 receptor beta 1
General
DNA-binding protein
triiodothyronine [T3] receptor or erbA proto-oncogene protein
zinc finger protein
Properties
SIZE: entity length = 461 aa
MW = 53 kD
COMPARTMENT: cell nucleus
MOTIF: Modulating {1-106}
DNA-binding motif
SITE: 107-181
MOTIF: Zn finger C4-type
SITE: 107-127
EFFECTOR-BOUND: Zn+2
Zn finger C4-type
SITE: 145-169
EFFECTOR-BOUND: Zn+2
binding site
SITE: 244-461
FOR-BINDING-OF: ligand
Database Correlations
OMIM correlations
MORBIDMAP 190160
UniProt P10828
PFAM correlations
Entrez Gene 7068
Kegg hsa:7068
References
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=THRB
- UniProt :accession P10828