Disease-gene associations mined from literature

Literature associating HMGB3 and microphthalmia

HMGB3 [ENSP00000359393]

High mobility group protein 2a; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference to non- canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cell and myeloid cell differentiation. In hematopoietic stem cells may regulate the balance between self-renewal and differentiation. Involved in negative regulation of canonical Wnt signaling (By similarity); Belongs to the HMGB family.

Synonyms:  HMGB3,  HMGB3p,  hHMGB3,  E7EQU1,  E7ES08 ...

Linkouts:  STRING  Pharos  UniProt  OMIM