Variant: rs1553426462 

    present in Gene: POU3F3
    present in Chromosome: 2
    Position on Chromosome: 104856496
    Alleles of this Variant: AGCGGCGCATCAAGC/-

rs1553426462 in POU3F3 gene and Dysmorphic features PMID 16505001 2006 Positive association between POU1F1 and mental retardation in young females in the Chinese Han population.

PMID 17141158 2006 Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif.

PMID 1565620 1992 Structure and evolution of four POU domain genes expressed in mouse brain.

PMID 8543156 1995 Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2.

PMID 18261853 2008 Expression of Sox11 and Brn transcription factors during development and following transient forebrain ischemia in the rat.

PMID 11859196 2002 Transcriptional regulation of cortical neuron migration by POU domain factors.

PMID 10433239 1999 The Oct-2 POU domain gene in the neuroendocrine brain: a transcriptional regulator of mammalian puberty.

PMID 12925600 2003 Crucial roles of Brn1 in distal tubule formation and function in mouse kidney.

PMID 12130536 2002 Brn-1 and Brn-2 share crucial roles in the production and positioning of mouse neocortical neurons.

PMID 26833329 2016 Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

PMID 9632656 1998 Cooperative function of POU proteins and SOX proteins in glial cells.

PMID 2739723 1989 Expression of a large family of POU-domain regulatory genes in mammalian brain development.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 2044958 1991 POU-domain transcription factors: pou-er-ful developmental regulators.

PMID 8543155 1995 The POU domain transcription factor Brn-2 is required for the determination of specific neuronal lineages in the hypothalamus of the mouse.

PMID 24550763 2014 A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.

PMID 8156594 1994 Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules.