REST Chromosome 4
RE1 silencing transcription factor
Upload your DNA to see your personal genotypes for variants in REST.
What This Gene Does
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. [provided by RefSeq, May 2018]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000084093
Associated Conditions (9)
Inborn genetic diseases
REST-related disorder
Fibromatosis
gingival
5
1
Wilms tumor 6
Autosomal dominant nonsyndromic hearing loss 27
Autosomal dominant nonsyndromic hearing loss
Key Variants
RS138773727
Conflicting classifications of pathogenicity
Health Risk
RS139336427
Conflicting classifications of pathogenicity
Inborn genetic diseases, REST-related disorder, Inborn genetic diseases
Health Risk
RS141001113
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141166149
Conflicting classifications of pathogenicity
Health Risk
RS144905338
Conflicting classifications of pathogenicity
Health Risk
RS146786246
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146942863
Conflicting classifications of pathogenicity
REST-related disorder, REST-related disorder
Health Risk
RS148565623
Conflicting classifications of pathogenicity
Health Risk
RS148966683
Conflicting classifications of pathogenicity
REST-related disorder, Inborn genetic diseases, REST-related disorder
Health Risk
RS1553904481
Conflicting classifications of pathogenicity
Fibromatosis, gingival, 5
Health Risk
RS199816806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200509833
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138773727 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139336427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, REST-related disorder, Inborn genetic diseases |
| RS141001113 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141166149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144905338 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146786246 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146942863 | Health Risk | Conflicting classifications of pathogenicity | REST-related disorder, REST-related disorder |
| RS148565623 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148966683 | Health Risk | Conflicting classifications of pathogenicity | REST-related disorder, Inborn genetic diseases, REST-related disorder |
| RS1553904481 | Health Risk | Conflicting classifications of pathogenicity | Fibromatosis, gingival, 5 |
| RS199816806 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200509833 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200745456 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS555004124 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS572949989 | Health Risk | Conflicting classifications of pathogenicity | Fibromatosis, gingival, 5 |
| RS748046758 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751201019 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 27, Fibromatosis, gingival |
| RS757216362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761661933 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777213931 | Health Risk | Conflicting classifications of pathogenicity | REST-related disorder, Wilms tumor 6, REST-related disorder |
| RS781705605 | Health Risk | Conflicting classifications of pathogenicity | REST-related disorder, Autosomal dominant nonsyndromic hearing loss 27, Wilms tumor 6 |
| RS1284461687 | Health Risk | Likely pathogenic | Fibromatosis, gingival, 5 |
| RS1553904077 | Health Risk | Likely pathogenic | Fibromatosis, gingival, 5 |
| RS1553904346 | Health Risk | Likely pathogenic | Fibromatosis, gingival, 5 |
| RS1553904378 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2109573013 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 27, Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss 27 |
| RS2475800849 | Health Risk | Likely pathogenic | REST-related disorder, REST-related disorder |
| RS2475801182 | Health Risk | Likely pathogenic | — |
| RS2475825927 | Health Risk | Likely pathogenic | REST-related disorder, REST-related disorder |
| RS1578485326 | Health Risk | Pathogenic | — |
| RS1719882659 | Health Risk | Pathogenic | — |
| RS1719897819 | Health Risk | Pathogenic | — |
| RS1720770872 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 27, Autosomal dominant nonsyndromic hearing loss 27 |
| RS2109523966 | Health Risk | Pathogenic | — |
| RS2109578516 | Health Risk | Pathogenic | Fibromatosis, gingival, 5 |
| RS2475797794 | Health Risk | Pathogenic | — |
| RS2475801074 | Health Risk | Pathogenic | — |
| RS2475854474 | Health Risk | Pathogenic | Fibromatosis, gingival, 5 |
| RS61748753 | Health Risk | Pathogenic | — |
| RS777288773 | Health Risk | Pathogenic | — |
| RS869025310 | Health Risk | Pathogenic | Wilms tumor 6, Wilms tumor 6 |
| RS869025311 | Health Risk | risk factor | Wilms tumor 6, Wilms tumor 6 |
| RS869025312 | Health Risk | risk factor | Wilms tumor 6, Wilms tumor 6 |