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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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REST
RE1 silencing transcription factor
Chromosome 4 Β· 4q12
NCBI Gene: 5978Ensembl: ENSG00000084093.19HGNC: HGNC:9966UniProt: A0A1W2PQA1
274PubMed Papers
23Diseases
0Drugs
25Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to hypoxiaRNA polymerase II cis-regulatory region sequence-specific DNA bindingnegative regulation of transcription by RNA polymerase IItranscription cis-regulatory region bindinghereditary gingival fibromatosisNephroblastomaneurodegenerative diseaseautosomal dominant nonsyndromic hearing loss
✦AI Summary

REST (RE1 silencing transcription factor) is a DNA-binding transcription repressor that functions as a master negative regulator of neuronal gene expression. As a sequence-specific repressor, REST binds to neuron-restrictive silencer elements (NRSE) in target gene promoters to suppress transcription by RNA polymerase II 1. The gene encodes multiple isoforms with distinct functional properties; isoform 1 exhibits full repressor activity, while isoform 3 can be generated through SRRM4-dependent alternative splicing 1. REST plays critical roles in nervous system development by preventing premature neuronal differentiation and maintaining the non-neuronal cell fate. Notably, post-transcriptional inactivation of REST through alternative splicing into isoform 3 is essential for neuronal gene derepression in mechanosensory hair cells, which is required for normal hearing function. Mutations in REST are associated with autosomal dominant deafness (DFNA27), gingival fibromatosis type 5, and Wilms tumor 6, highlighting its importance in organ development and cellular differentiation. The gene's expression is responsive to various cellular signals including electrical stimulation and glucocorticoid exposure, enabling REST to integrate developmental and environmental cues in regulating neuronal cell fate determination.

Sources cited
1
REST isoform 1 exhibits full repressor activity and binds to NRSE; isoform-specific functional differences exist
PMID: 11779185
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜23
hereditary gingival fibromatosisOpen Targets
0.68Moderate
NephroblastomaOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.49Moderate
coronary artery diseaseOpen Targets
0.48Moderate
myocardial infarctionOpen Targets
0.48Moderate
atrial fibrillationOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.43Moderate
coronary atherosclerosisOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.38Weak
genetic disorderOpen Targets
0.34Weak
Myocardial IschemiaOpen Targets
0.32Weak
HeadacheOpen Targets
0.30Weak
heart diseaseOpen Targets
0.28Weak
osteoarthritis, handOpen Targets
0.27Weak
risk-taking behaviourOpen Targets
0.23Weak
hip fractureOpen Targets
0.20Weak
Wilms tumorOpen Targets
0.19Weak
gingival fibromatosis-progressive deafness syndromeOpen Targets
0.18Weak
osteoarthritis, hipOpen Targets
0.16Weak
Deafness, autosomal dominant, 27UniProt
Fibromatosis, gingival, 5UniProt
Wilms tumor 6UniProt
Pathogenic Variants25
NM_005612.5(REST):c.830_831del (p.Thr277fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_005612.5(REST):c.319G>T (p.Glu107Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 107
NM_005612.5(REST):c.666del (p.Tyr223fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 223
NM_005612.5(REST):c.1244G>C (p.Cys415Ser)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 27|Autosomal dominant nonsyndromic hearing loss
β˜…β˜†β˜†β˜†2024β†’ Residue 415
NM_005612.5(REST):c.663C>A (p.Cys221Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 221
NM_005612.5(REST):c.2515G>T (p.Glu839Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 839
NM_005612.5(REST):c.177_181del (p.Asn59fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 59
NM_005612.5(REST):c.764del (p.Tyr255fs)Likely pathogenic
REST-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 255
NM_005612.5(REST):c.679C>T (p.Arg227Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 227
NM_005612.5(REST):c.908del (p.Pro303fs)Likely pathogenic
REST-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 303
NM_005612.5(REST):c.2809A>T (p.Lys937Ter)Pathogenic
Fibromatosis, gingival, 5
β˜…β˜†β˜†β˜†2022β†’ Residue 937
NM_005612.5(REST):c.851_866del (p.Phe284fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 284
NM_005612.5(REST):c.425del (p.Pro142fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 142
NM_005612.5(REST):c.831_832del (p.Cys278fs)Pathogenic
Wilms tumor 6|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 278
NM_005612.5(REST):c.274G>T (p.Gly92Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 92
NM_005612.5(REST):c.2770C>T (p.Gln924Ter)Likely pathogenic
Fibromatosis, gingival, 5
β˜…β˜†β˜†β˜†2020β†’ Residue 924
NM_005612.5(REST):c.440_441dup (p.Glu148fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 148
NM_005612.5(REST):c.265dup (p.Glu89fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 89
NM_005612.5(REST):c.2227G>T (p.Glu743Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 743
NM_005612.5(REST):c.1310T>A (p.Leu437Ter)Likely pathogenic
Fibromatosis, gingival, 1|Fibromatosis, gingival, 5
β˜…β˜†β˜†β˜†2017β†’ Residue 437
View on ClinVar β†—
Related Genes
CTBP1Protein interaction100%CREB1Protein interaction100%EZH2Protein interaction100%EHMT2Protein interaction99%RCOR1Protein interaction99%CTDSP1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
37%
Ovary
28%
Liver
25%
Lung
25%
Brain
16%
Gene Interaction Network
Click a node to explore
RESTCTBP1CREB1EZH2EHMT2RCOR1CTDSP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6DU2 Β· 2.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.16]
RankingsWhere REST stands among ~20K protein-coding genes
  • #1,336of 20,598
    Most Researched274 Β· top 10%
  • #1,965of 5,498
    Most Pathogenic Variants25
  • #253of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedREST
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The brain's default mode network.
PMID: 25938726
Annu Rev Neurosci Β· 2015
1.00
2
Rest heart rate and life expectancy.
PMID: 9316546
J Am Coll Cardiol Β· 1997
0.96
3
The effects of short versus long inter-set rest intervals in resistance training on measures of muscle hypertrophy: A systematic review.
PMID: 28641044
Eur J Sport Sci Β· 2017
0.90
4
Meta-analysis of postactivation potentiation and power: effects of conditioning activity, volume, gender, rest periods, and training status.
PMID: 22580978
J Strength Cond Res Β· 2013
0.80
5
The female human heart at rest and during exercise: a review.
PMID: 25017048
Eur J Sport Sci Β· 2015
0.70