Gene: ERF

Alternate names for this Gene: CHYTS|CRS4|PE-2|PE2

Gene Summary: ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: ETS2 repressor factor

Type of Gene: protein-coding

rs587777008 in ERF gene and CRANIOSYNOSTOSIS 4 PMID 23354439 2013 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

rs1555750816 in ERF gene and Craniosynostosis, Type 1 PMID 23354439 2013 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

PMID 28808027 2017 De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

rs1555750721 in ERF gene and Dysmorphic features PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 23354439 2013 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

PMID 27738187 2017 Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

rs35493131 in ERF gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs35493131 in ERF gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.