DISEASES

Disease-gene associations mined from literature

Literature associating CECR2 and coloboma

CECR2 [ENSP00000341219]

Cat eye syndrome chromosome region, candidate 2; Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex. It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated. May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis.

Synonyms:  CECR2,  CECR2p,  hCECR2,  B7WPH3,  CECR2-001 ...

Linkouts:  STRING  Pharos  UniProt