DISEASES

Disease-gene associations mined from literature

Literature associating ENY2 and distal arthrogryposis type 6

ENY2 [ENSP00000429986]

Enhancer of yellow 2 transcription factor homolog; Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery; Belongs to the ENY2 family.

Synonyms:  ENY2,  ENY2p,  hENY2,  A0A024R9D9,  E5RHT9 ...

Linkouts:  STRING  Pharos  UniProt