Gene Gene information from NCBI Gene database.
Entrez ID 473
Gene name Arginine-glutamic acid dipeptide repeats
Gene symbol RERE
Synonyms (NCBI Gene)
ARGARPATN1LDNB1NEDBEH
Chromosome 1
Chromosome location 1p36.23
Summary This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protei
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs745806637 C>-,CC Conflicting-interpretations-of-pathogenicity Coding sequence variant, frameshift variant
rs751232315 G>A,C Likely-pathogenic Coding sequence variant, synonymous variant, missense variant
rs766951273 C>T Pathogenic Coding sequence variant, missense variant
rs869312871 G>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs878853011 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT002988 hsa-miR-429 Luciferase reporter assay 17923093
MIRT002988 hsa-miR-429 Luciferase reporter assay 17923093
MIRT002988 hsa-miR-429 Luciferase reporter assay 17923093
MIRT002987 hsa-miR-200b-3p Luciferase reporter assay 17923093
MIRT002987 hsa-miR-200b-3p Luciferase reporter assay 17923093
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IEA
GO:0003682 Function Chromatin binding IEA
GO:0003713 Function Transcription coactivator activity IEA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605226 9965 ENSG00000142599
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2R6
Protein name Arginine-glutamic acid dipeptide repeats protein (Atrophin-1-like protein) (Atrophin-1-related protein)
Protein function Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death. {EC
PDB 2YQK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01426 BAH 103 283 BAH domain Domain
PF01448 ELM2 286 336 ELM2 domain Family
PF00320 GATA 507 542 GATA zinc finger Domain
PF03154 Atrophin-1 568 1565 Atrophin-1 family Disordered
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in tumor cell lines. {ECO:0000269|PubMed:10729226, ECO:0000269|PubMed:10814707, ECO:0000269|PubMed:11331249}.
Sequence
MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDED
NDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNT
PYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHL
LMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAA
LRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQ
GEIRVGPSHQAKLPDLQ
PFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARS
MAAFAGMCDGGSTEDGCVAASRDD
TTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRK
ELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSS
EFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYG
EL
PPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTS
PINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEE
ADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQD
NESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSATAVPPQGSPT
ASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPS
HAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQL
PASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMN
ANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASH
PPTGLHQVAPQPPFAQHPFVPGGPPPITPPTCPSTSTPPAGPGTSAQPPCSGAAASGGSI
AGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRG
YNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKERERERERER
EAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYA
RPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELR
ERMKPGFEVKPPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLA
LAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQ
QDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYP
RDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKK
EGDKQ
L
Sequence length 1566
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic rs1641565884 RCV001291371
Cerebral visual impairment and intellectual disability Likely pathogenic; Pathogenic rs869312871 RCV000210403
CHARGE syndrome Likely pathogenic; Pathogenic rs1064793252 RCV001034582
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs1641418583 RCV003389084
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign; Likely benign rs147112611 RCV005902875
Cleft palate Likely benign rs1057430315 RCV005623512
Developmental disorder Conflicting classifications of pathogenicity rs375547664 RCV001843789
Familial cancer of breast Benign; Likely benign rs147112611 RCV005902874
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 33417599
Arachnoid Cysts Associate 30558068
Asthma Associate 35169275
Autistic Disorder Associate 29330883
Bartter Syndrome Associate 21937999
Breast Neoplasms Associate 30692147
Cardiomyopathies Associate 24454898
CHARGE Syndrome Associate 29330883
Chromosome 1p36 Deletion Syndrome Stimulate 39482002
Colorectal Neoplasms Associate 27260798