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

Gene ID: 473, updated on 3-Nov-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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See RERE in Genome Data Viewer
Location:
1p36.23
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8352404..8817640, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7885246..8351098, complement)
RS_2024_09 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 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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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

Associated conditions

Description Tests
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
MedGen: C4310772 OMIM: 616975 GeneReviews: RERE-Related Disorders
not available

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)

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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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_2024_08

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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