Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
473
Gene name Gene Name - the full gene name approved by the HGNC.
Arginine-glutamic acid dipeptide repeats
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RERE
Synonyms (NCBI Gene) Gene synonyms aliases
ARG, ARP, ATN1L, DNB1, NEDBEH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDBEH
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IEA
GO:0001085 Function RNA polymerase II transcription factor binding IBA 21873635
GO:0003682 Function Chromatin binding IEA
GO:0003713 Function Transcription coactivator activity IEA
GO:0003714 Function Transcription corepressor activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605226 9965 ENSG00000142599
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019 23453885
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 30552067, 31619474, 29785011, 30929738 ClinVar, GWAS
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30940143 ClinVar
Mental depression Major Depressive Disorder 29942085, 29700475, 27479909, 31619474, 23453885, 30718901 ClinVar
Vitiligo Vitiligo GWAS
Associations from Text Mining
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