thyroid hormone receptor-associated protein 2 (thyroid hormone receptor-associated protein complex 240 kD component-like, THRAP2, KIAA1025, PROSIT240, TRAP240L)

Function

• component of the mediator complex
• transcriptional coactivation
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

• belongs to the mediator complex subunit 13 family

Compartment

nucleus (probable)

Expression

• highly expressed in brain (cerebellum, fetal brain), heart (aorta), skeletal muscle, kidney, placenta, peripheral blood leukocytes

Pathology

• defects in THRAP2 are associated with transposition of the great arteries - dextro-looped
  • translocation t(12;17)(q24.1;q21) identified in one patient with transposition of the great arteries, dextro-looped & mental retardation

More general terms

• transcriptional adaptor protein; transcriptional coactivator
• phosphoprotein

Component of

• mediator complex (mediator of RNA polymerase 2 transcription)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23389
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23389
• OMIM: https://mirror.omim.org/entry/608771
• OMIM: https://mirror.omim.org/entry/608808
• UniProt: http://www.uniprot.org/uniprot/Q71F56.html