Search
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
Related
thyroid hormone receptor-associated protein 2 gene (THRAP2)
General
phosphoprotein
transcriptional adaptor protein; transcriptional coactivator
Properties
SIZE: MW = 243 kD
entity length = 2210 aa
COMPARTMENT: cell nucleus
MOTIF: leucine zipper
SITE: 1380-1401
FOR-BINDING-VIA: leucine zipper
serine-rich region {1566-1610}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 608771
UniProt Q71F56
PFAM correlations
Entrez Gene 23389
Kegg hsa:23389
References
UniProt :accession Q71F56
Component-of
mediator complex (mediator of RNA polymerase 2 transcription)