Gene: REST

Alternate names for this Gene: DFNA27|GINGF5|HGF5|NRSF|WT6|XBR

Gene Summary: This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an oncogene or a tumor suppressor. The encoded protein is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regulator of neurogenesis. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 4

Location in Chromosome : 4q12

Description of this Gene: RE1 silencing transcription factor

Type of Gene: protein-coding

rs1713985 in REST gene and Age related macular degeneration PMID 21909106 2011 In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).

rs17081935 in REST gene and Body Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17081933 in REST gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs1553904077 in REST gene and Fibromatosis, Gingival, Type 1 PMID 28686854 2017 REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

rs17081935 in REST gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs6852997 in REST gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs869025312 in REST gene and WILMS TUMOR, SUSCEPTIBILITY TO PMID 26551668 2015 Mutations in the transcriptional repressor REST predispose to Wilms tumor.

rs708547 in REST gene and response to bleomycin PMID 21106707 2011 A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.