Gene: ZBTB20-AS1
Alternate names for this Gene: -
Gene Summary:
Gene is located in Chromosome: 3
Location in Chromosome : 3q13.31
Description of this Gene: ZBTB20 antisense RNA 1
Type of Gene: ncRNA
Gene: ZBTB20
Alternate names for this Gene: DPZF|HOF|ODA-8S|PRIMS|ZNF288
Gene Summary: 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3q13.31
Description of this Gene: zinc finger and BTB domain containing 20
Type of Gene: protein-coding
rs1553794464 in
ZBTB20-AS1;ZBTB20 gene and
Dysmorphic features
PMID 23032108 2013 Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
PMID 27061120 2016 Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
PMID 25017102 2014 Mutations in ZBTB20 cause Primrose syndrome.
PMID 19273596 2009 Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.
PMID 22180640 2012 A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
PMID 28462983 2017 Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
PMID 21567911 2011 Additional features of unique Primrose syndrome phenotype.
rs1553794464 in
ZBTB20-AS1;ZBTB20 gene and
Overgrowth
PMID 28462983 2017 Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
PMID 27061120 2016 Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
PMID 25017102 2014 Mutations in ZBTB20 cause Primrose syndrome.
PMID 23032108 2013 Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
PMID 21567911 2011 Additional features of unique Primrose syndrome phenotype.
PMID 22180640 2012 A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
PMID 19273596 2009 Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.
rs483353064 in
ZBTB20-AS1;ZBTB20 gene and
Primrose syndrome
PMID 25017102 2014 Mutations in ZBTB20 cause Primrose syndrome.