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

• composed of three domains:
  • modulating N-terminal domain
  • DNA-binding domain
  • C-terminal steroid-binding domain
• belongs to the nuclear hormone receptor family, NR1 subfamily
• contains 1 nuclear receptor DNA-binding domain

Compartment

nucleus

Alternative splicing

named isoforms=2

Pathology

• defects in THRB are the cause of:
  • generalized thyroid hormone resistance
  • selective pituitary thyroid hormone resistance

Laboratory

• THRB gene mutation

More general terms

• triiodothyronine [T3] receptor or erbA proto-oncogene protein
• zinc finger protein
• DNA-binding protein

More specific terms

• t3 receptor beta 1

Additional terms

• syndrome of thyroid hormone resistance; generalized thyroid hormone resistance; Refetoff syndrome

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7068
• OMIM: https://mirror.omim.org/entry/145650
• OMIM: https://mirror.omim.org/entry/188570
• OMIM: https://mirror.omim.org/entry/190160
• OMIM: https://mirror.omim.org/entry/274300
• UniProt: http://www.uniprot.org/uniprot/P10828.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7068