REST (RE1 silencing transcription factor)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5978
Gene name Gene Name - the full gene name approved by the HGNC.
RE1 silencing transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REST
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA27, GINGF5, HGF5, NRSF, WT6, XBR
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, Western blot 19118166
MIRT000026 hsa-miR-9-5p Luciferase reporter assay, Western blot 19118166
MIRT000026 hsa-miR-9-5p Luciferase reporter assay, Western blot 19118166
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
AR Repression 24163104
ZNF335 Unknown 23178126
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(92)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600571 9966 ENSG00000084093
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal dominant nonsyndromic hearing loss 27 rs1720770872 N/A
Fibromatosis Fibromatosis, gingival, 1 rs1553904077, rs1553904346 N/A
Gingival Fibromatosis fibromatosis, gingival, 5 rs1553904077, rs1553904346, rs1284461687 N/A
Wilms Tumor Wilms tumor 6 rs869025310 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hereditary Gingival Fibromatosis hereditary gingival fibromatosis N/A N/A GenCC
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease 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