Aliases for HMGB3 Gene
External Ids for HMGB3 Gene
Previous HGNC Symbols for HMGB3 Gene
Previous GeneCards Identifiers for HMGB3 Gene
This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GeneCards Summary for HMGB3 Gene
HMGB3 (High Mobility Group Box 3) is a Protein Coding gene. Diseases associated with HMGB3 include Microphthalmia, Syndromic 13 and Colobomatous Microphthalmia. GO annotations related to this gene include poly(A) RNA binding and double-stranded DNA binding. An important paralog of this gene is HMGB1.
UniProtKB/Swiss-Prot for HMGB3 Gene
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).