REST (RE1 silencing transcription factor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5978
Gene name RE1 silencing transcription factor
Gene symbol REST
Synonyms (NCBI Gene)
DFNA27GINGF5HGF5NRSFWT6XBR
Chromosome 4
Chromosome location 4q12
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 me
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs777288773 G>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs869025310 AT>- Risk-factor Frameshift variant, coding sequence variant
rs869025311 TGAG>- Risk-factor Frameshift variant, coding sequence variant
rs869025312 A>G Risk-factor Coding sequence variant, intron variant, missense variant
rs1284461687 C>G,T Likely-pathogenic Coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
1418
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1418)
miRTarBase ID miRNA Experiments Reference
MIRT000177 hsa-miR-21-5p Luciferase reporter assay 19242418
MIRT000026 hsa-miR-9-5p Luciferase reporter assay 19137007
MIRT000026 hsa-miR-9-5p Luciferase reporter assayWestern blot 19118166
MIRT000026 hsa-miR-9-5p Luciferase reporter assayWestern blot 19118166
MIRT000026 hsa-miR-9-5p Luciferase reporter assayWestern blot 19118166
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
AR Repression 24163104
ZNF335 Unknown 23178126
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
92
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8568247, 21284946
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 7697725
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0000976 Function Transcription cis-regulatory region binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600571 9966 ENSG00000084093
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13127
Protein name RE1-silencing transcription factor (Neural-restrictive silencer factor) (X2 box repressor)
Protein function Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells (PubMed:11741002, PubMed:11779185, PubMed:12399542, PubMed:26551668, PubMed:7697725, PubMed:7871435,
PDB 2CZY , 6DU2 , 6DU3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13909 zf-H2C2_5 304 → 328 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in neurons of the prefrontal cortex, in hippocampal pyramidal neurons, dentate gyrus granule neurons and cerebellar Purkinje and granule neurons (at protein level) (PubMed:24670762). Expressed in dopaminergic neurons of the s
Sequence 
MATQVMGQSSGGGGLFTSSGNIGMALPNDMYDLHDLSKAELAAPQLIMLANVALTGEVNG
SCCDYLVGEERQMAELMPVGDNNFSDSEEGEGLEESADIKGEPHGLENMELRSLELSVVE
PQPVFEASGAPDIYSSNKDLPPETPGAEDKGKSSKTKPFRCKPCQYEAESEEQFVHHIRV
HSAKKFFVEESAEKQAKARESGSSTAEEGDFSKGPIRCDRCGYNTNRYDHYTAHLKHHTR
AGDNERVYKCIICTYTTVSEYHWRKHLRNHFPRKVYTCGKCNYFSDRKNNYVQHVRTHTG
ERPYKCELCPYSSSQKTHLTRHMRTHSGEKPFKCDQCSYVASNQHEVTRHARQVHNGPKP
LNCPHCDYKTADRSNFKKHVELHVNPRQFNCPVCDYAASKKCNLQYHFKSKHPTCPNKTM
DVSKVKLKKTKKREADLPDNITNEKTEIEQTKIKGDVAGKKNEKSVKAEKRDVSKEKKPS
NNVSVIQVTTRTRKSVTEVKEMDVHTGSNSEKFSKTKKSKRKLEVDSHSLHGPVNDEESS
TKKKKKVESKSKNNSQEVPKGDSKVEENKKQNTCMKKSTKKKTLKNKSSKKSSKPPQKEP
VEKGSAQMDPPQMGPAPTEAVQKGPVQVEPPPPMEHAQMEGAQIRPAPDEPVQMEVVQEG
PAQKELLPPVEPAQMVGAQIVLAHMELPPPMETAQTEVAQMGPAPMEPAQMEVAQVESAP
MQVVQKEPVQMELSPPMEVVQKEPVQIELSPPMEVVQKEPVKIELSPPIEVVQKEPVQME
LSPPMGVVQKEPAQREPPPPREPPLHMEPISKKPPLRKDKKEKSNMQSERARKEQVLIEV
GLVPVKDSWLLKESVSTEDLSPPSPPLPKENLREEASGDQKLLNTGEGNKEAPLQKVGAE
EADESLPGLAANINESTHISSSGQNLNTPEGETLNGKHQTDSIVCEMKMDTDQNTRENLT
GINSTVEEPVSPMLPPSAVEEREAVSKTALASPPATMAANESQEIDEDEGIHSHEGSDLS
DNMSEGSDDSGLHGARPVPQESSRKNAKEALAVKAAKGDFVCIFCDRSFRKGKDYSKHLN
RHLVNVYYLEEAAQGQE
Sequence length 1097
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Signaling pathways regulating pluripotency of stem cells
Huntington disease 		  HDACs deacetylate histones
NGF-stimulated transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
167
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss Likely pathogenic rs2109573013 RCV004809799
Autosomal dominant nonsyndromic hearing loss 27 Likely pathogenic; Pathogenic rs2109573013, rs1720770872 RCV002248339
RCV000855719
Fibromatosis, gingival, 1 Likely pathogenic rs1553904077, rs1553904346 RCV000516150
RCV000515908
Fibromatosis, gingival, 5 Pathogenic; Likely pathogenic rs2109578516, rs2475854474, rs1553904077, rs1553904346, rs1284461687 RCV001549285
RCV003127327
RCV000498225
RCV000498949
RCV000995854
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Uncertain significance rs544207693 RCV005909021
Gastric cancer Uncertain significance rs544207693 RCV005909025
Hepatocellular carcinoma Uncertain significance rs544207693 RCV005909022
Malignant tumor of esophagus Uncertain significance rs544207693 RCV005909023
Show/Hide Text Mining Associations (39)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33299399
Alzheimer Disease Inhibit 35650520
Brain Neoplasms Associate 34931516
Breast Neoplasms Associate 20392875, 35177031
Carcinogenesis Associate 24968265
Carcinoma Merkel Cell Associate 30414538
Carcinoma Squamous Cell Associate 32772818
Cognition Disorders Associate 26708060, 35650520
Cognitive Dysfunction Associate 26708060
Cognitive Dysfunction Stimulate 35650520