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    RERE arginine-glutamic acid dipeptide repeats [ Homo sapiens (human) ]

    Gene ID: 473, updated on 5-Mar-2024

    Summary

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    Official Symbol
    REREprovided by HGNC
    Official Full Name
    arginine-glutamic acid dipeptide repeatsprovided by HGNC
    Primary source
    HGNC:HGNC:9965
    See related
    Ensembl:ENSG00000142599 MIM:605226; AllianceGenome:HGNC:9965
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARG; ARP; DNB1; ATN1L; NEDBEH
    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 protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 24.6), prostate (RPKM 18.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.23
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8352404..8817640, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7885246..8351098, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8412464..8877699, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903835 Neighboring gene MPRA-validated peak46 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 193 Neighboring gene RNA, U6 small nuclear 991, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8402936-8403676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8409923-8410743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8419297-8419798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8419799-8420298 Neighboring gene solute carrier family 45 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8424721-8425691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8427517-8428017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8429621-8430609 Neighboring gene Sharpr-MPRA regulatory region 599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8509073-8509572 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8510477-8510976 Neighboring gene RERE antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:8519688-8520585 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8562545-8563228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8564373-8565281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8569526-8570026 Neighboring gene small nucleolar RNA SNORA77 Neighboring gene Sharpr-MPRA regulatory region 8357 Neighboring gene small nucleolar RNA, C/D box 128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8658491-8658990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8750738-8751238 Neighboring gene Sharpr-MPRA regulatory region 13529 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8770382-8770882 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:8781158-8781398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8790471-8790970 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:8791953-8792122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 110 Neighboring gene ribosomal protein L7 pseudogene 11 Neighboring gene Sharpr-MPRA regulatory region 4622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 201 Neighboring gene Sharpr-MPRA regulatory region 7894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 203 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:8881999-8882222 Neighboring gene ribosomal protein L7 pseudogene 7 Neighboring gene ribosomal protein L27 pseudogene Neighboring gene ribosomal protein L23a pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 9811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8925615-8926450 Neighboring gene microRNA 6728 Neighboring gene enolase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. RERE-Related Disorders. Adam MP, et al. , 1993. PMID 30896913
    2. Human RERE is localized to nuclear promyelocytic leukemia oncogenic domains and enhances apoptosis. Waerner T, et al. Cell Growth Differ, 2001 Apr. PMID 11331249
    3. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Fregeau B, et al. Am J Hum Genet, 2016 May 5. PMID 27087320, Free PMC Article
    4. Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. Yanagisawa H, et al. Hum Mol Genet, 2000 May 22. PMID 10814707
    5. Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. Amler LC, et al. Genomics, 2000 Mar 1. PMID 10729226

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. suggest that mutations in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions
      Title: De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    4. The mouse ortholog of RERE is required for embryonic development
      Title: Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of optic disc parameters.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38775, KIAA0458

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in branching morphogenesis of a nerve IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellar Purkinje cell layer maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellar granule cell precursor proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in radial glia guided migration of Purkinje cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of histone deacetylase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arginine-glutamic acid dipeptide repeats protein
    Names
    arginine-glutamic acid dipeptide (RE) repeats
    atrophin 2
    atrophin-1 like protein
    atrophin-1 related protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047035.1 RefSeqGene

      Range
      5052..470288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042681.2 → NP_001036146.1  arginine-glutamic acid dipeptide repeats protein isoform a

      See identical proteins and their annotated locations for NP_001036146.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL356072, BC062342, CD679363, DA868444
      Consensus CDS
      CCDS95.1
      UniProtKB/Swiss-Prot
      O43393, O75046, O75359, Q5VXL9, Q6P6B9, Q9P2R6, Q9Y2W4
      UniProtKB/TrEMBL
      B1AKN3
      Related
      ENSP00000383700.2, ENST00000400908.7
      Conserved Domains (8) summary
      smart00717
      Location:396 → 441
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11661
      Location:395 → 440
      SANT_MTA3_like; Myb-Like Dna-Binding Domain of MTA3 and related proteins
      smart00401
      Location:503 → 552
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:506 → 560
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
      cd04709
      Location:102 → 307
      BAH_MTA; BAH, or Bromo Adjacent Homology domain, as present in MTA1 and similar proteins. The Metastasis-associated protein MTA1 is part of the NURD (nucleosome remodeling and deacetylating) complex and plays a role in cellular transformation and metastasis. BAH ...
      pfam01448
      Location:286 → 336
      ELM2; ELM2 domain
      pfam03154
      Location:568 → 1565
      Atrophin-1; Atrophin-1 family
      pfam04629
      Location:627 → 793
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    2. NM_001042682.2 → NP_001036147.1  arginine-glutamic acid dipeptide repeats protein isoform b

      See identical proteins and their annotated locations for NP_001036147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform a.
      Source sequence(s)
      AF016005, AL096855, AL356072, BC062342, CD674939, CD679363
      Consensus CDS
      CCDS41243.1
      UniProtKB/Swiss-Prot
      Q9P2R6
      Related
      ENSP00000422246.1, ENST00000476556.5
      Conserved Domains (2) summary
      TIGR04420
      Location:58 → 146
      Sec_Non_Glob; Sec region non-globular protein
      pfam03154
      Location:14 → 1011
      Atrophin-1; Atrophin-1 family

    3. NM_012102.4 → NP_036234.3  arginine-glutamic acid dipeptide repeats protein isoform a

      See identical proteins and their annotated locations for NP_036234.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB036737, AL356072, AL357552, BC062342, CD679363, DA868444
      Consensus CDS
      CCDS95.1
      UniProtKB/Swiss-Prot
      O43393, O75046, O75359, Q5VXL9, Q6P6B9, Q9P2R6, Q9Y2W4
      UniProtKB/TrEMBL
      B1AKN3
      Related
      ENSP00000338629.3, ENST00000337907.7
      Conserved Domains (8) summary
      smart00717
      Location:396 → 441
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11661
      Location:395 → 440
      SANT_MTA3_like; Myb-Like Dna-Binding Domain of MTA3 and related proteins
      smart00401
      Location:503 → 552
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:506 → 560
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
      cd04709
      Location:102 → 307
      BAH_MTA; BAH, or Bromo Adjacent Homology domain, as present in MTA1 and similar proteins. The Metastasis-associated protein MTA1 is part of the NURD (nucleosome remodeling and deacetylating) complex and plays a role in cellular transformation and metastasis. BAH ...
      pfam01448
      Location:286 → 336
      ELM2; ELM2 domain
      pfam03154
      Location:568 → 1565
      Atrophin-1; Atrophin-1 family
      pfam04629
      Location:627 → 793
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      8352404..8817640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      7885246..8351098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2R6.2 GenPept UniProtKB/Swiss-Prot:Q9P2R6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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