• Gene id: 473

Gene Summary

• Gene Symbol: RERE   Gene   UCSC   Ensembl
• Aliases: ARG, ARP, ATN1L, DNB1, NEDBEH
• Gene name: arginine-glutamic acid dipeptide repeats
• Alternate names: arginine-glutamic acid dipeptide repeats protein, arginine-glutamic acid dipeptide (RE) repeats, atrophin 2, atrophin-1 like protein, atrophin-1 related protein,
• Gene location: 1p36.23 (8817639: 8352403)     Exons: 25     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 605226

SNPs

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

Protein Summary

• Protein general information: Q9P2R6  
  • Name: Arginine glutamic acid dipeptide repeats protein (Atrophin 1 like protein) (Atrophin 1 related protein)
  • Length: 1566  
  • Mass: 172424
  • Tissue specificity: Widely expressed. Expressed in tumor cell lines. {ECO
• Sequence:

  MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEESTKKN
  KKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACCRSPTPALCDP
  PACSLPVASQPPQHLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNR
  ELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQ
  PFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDDTTLNALNTLHESGYD
  AGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRKELLPNKETGELITFYYYWKKTPEAASSRAH
  RRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGREN
  ILLCTDCRIHFKKYGELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTS
  PINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEEADRTSSKKTKTQEIS
  RPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPTGVTPA
  PSSAPPGTPQLPTPGPTPSATAVPPQGSPTASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPP
  LQPLTGSAGQPSAPSHAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQL
  PASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMNANLPPPPALKPLSSL
  STHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASHPPTGLHQVAPQPPFAQHPFVPGGPPPITPP
  TCPSTSTPPAGPGTSAQPPCSGAAASGGSIAGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPS
  HASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKERERERERER
  EAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFY
  MPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELRERMKPGFEVKPPELDPLHPAANPMEHFARH
  SALTIPPTAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPH
  HHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYP
  RDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQL

• Structural information:
  • Protein Domains: (103..28-)
    (/note="BAH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00370-)
    (284..38-)
    (/note="ELM2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00512-)
    (391..44-)
    (/note="SANT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624"-)
  • Interpro: IPR002951  IPR001025  IPR000949  IPR009057  IPR001005   IPR017884  IPR000679  
  • Prosite: PS51038 PS51156 PS51293
  • CDD: cd00202
  • PDB: 2YQK
  • PDBsum: 2YQK
  • DIP: 47606
  • STRING: ENSP00000338629
• Other Databases: GeneCards:  RERE  Malacards:  RERE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000118	histone deacetylase complex	IEA	cellular component
GO:0021549	cerebellum development	IEA	biological process
GO:0021930	cerebellar granule cell precursor proliferation	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
GO:0021691	cerebellar Purkinje cell layer maturation	IEA	biological process
GO:0021942	radial glia guided migration of Purkinje cell	IEA	biological process
GO:0048755	branching morphogenesis of a nerve	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
RERE-related neurodevelopmental syndrome	KEGG:H02305
RERE-related neurodevelopmental syndrome	KEGG:H02305
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq