Zinc Finger- And BTB Domain-Containing Protein 20

Alternative Names

  • ZBTB20
  • Zinc Finger Protein 288
  • ZNF288
  • Dendritic-Derived BTB/POZ Zinc Finger
  • DPZF
  • HOF
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OMIM Number

606025

NCBI Gene ID

26137

Uniprot ID

Q9HC78

Length

832,789 bases

No. of Exons

27

No. of isoforms

2

Protein Name

Zinc finger and BTB domain-containing protein 20

Molecular Mass

81083 Da

Amino Acid Count

741

Genomic Location

chr3:114,314,499-115,147,287

Gene Map Locus
3q13.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001348800.3:c.-342-48786=United Arab EmiratesNC_000003.12:g.114742361=NG_052992.1:g.409920=; NM_001348800.3:c.-342-48786=1882289
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