ZBTB20 gene

zinc finger and BTB domain containing 20

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

From UniProt:

May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal.

From NCBI Gene:

  • Primrose syndrome

From UniProt:

Primrose syndrome (PRIMS): A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting. [MIM:259050]

Cytogenetic Location: 3q13.31, which is the long (q) arm of chromosome 3 at position 13.31

Molecular Location: base pairs 114,314,500 to 115,147,280 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q13.31, which is the long (q) arm of chromosome 3 at position 13.31
  • DPZF
  • HOF
  • ODA-8S
  • PRIMS
  • ZNF288