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Aliases for RERE Gene

Aliases for RERE Gene

  • Arginine-Glutamic Acid Dipeptide Repeats 2 3
  • Arginine-Glutamic Acid Dipeptide (RE) Repeats 2 3 5
  • Atrophin-1-Related Protein 3 4
  • Atrophin-1-Like Protein 3 4
  • ATN1L 3 4
  • ARG 3 4
  • ARP 3 4
  • Atrophin-1 Related Protein 3
  • Atrophin-1 Like Protein 3
  • Atrophin 2 3
  • KIAA0458 4
  • DNB1 3

External Ids for RERE Gene

Previous HGNC Symbols for RERE Gene

  • ATN1L

Previous GeneCards Identifiers for RERE Gene

  • GC01M007994
  • GC01M008221
  • GC01M008122
  • GC01M008346
  • GC01M007562

Summaries for RERE Gene

Entrez Gene Summary for RERE 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 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]

GeneCards Summary for RERE Gene

RERE (Arginine-Glutamic Acid Dipeptide Repeats) is a Protein Coding gene. Diseases associated with RERE include actinomycosis and aortitis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is MTA2.

UniProtKB/Swiss-Prot for RERE Gene

  • 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.

Gene Wiki entry for RERE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RERE Gene

Genomics for RERE Gene

Regulatory Elements for RERE Gene

Enhancers for RERE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RERE on UCSC Golden Path with GeneCards custom track

Promoters for RERE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RERE on UCSC Golden Path with GeneCards custom track

Genomic Location for RERE Gene

Chromosome:
1
Start:
8,352,397 bp from pter
End:
8,817,691 bp from pter
Size:
465,295 bases
Orientation:
Minus strand

Genomic View for RERE Gene

Genes around RERE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RERE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RERE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RERE Gene

Proteins for RERE Gene

  • Protein details for RERE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2R6-RERE_HUMAN
    Recommended name:
    Arginine-glutamic acid dipeptide repeats protein
    Protein Accession:
    Q9P2R6
    Secondary Accessions:
    • O43393
    • O75046
    • O75359
    • Q5VXL9
    • Q6P6B9
    • Q9Y2W4

    Protein attributes for RERE Gene

    Size:
    1566 amino acids
    Molecular mass:
    172424 Da
    Quaternary structure:
    • Interacts with HDAC1 (By similarity). Interacts with ATN1. Interaction with ATN1 is improved when the poly-Gln region of ATN1 is extended. Interacts with FAT1.
    SequenceCaution:
    • Sequence=AAC31120.1; Type=Frameshift; Positions=588, 596; Evidence={ECO:0000305}; Sequence=AAD27584.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RERE Gene

    Alternative splice isoforms for RERE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RERE Gene

Proteomics data for RERE Gene at MOPED

Post-translational modifications for RERE Gene

  • Ubiquitination at Lys 378 and Lys 1324
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RERE Gene

Domains & Families for RERE Gene

Suggested Antigen Peptide Sequences for RERE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2R6

UniProtKB/Swiss-Prot:

RERE_HUMAN :
  • The interaction with ATN1 is mediated by the coiled coil domain.
  • Contains 1 GATA-type zinc finger.
Domain:
  • The interaction with ATN1 is mediated by the coiled coil domain.
  • Contains 1 BAH domain.
  • Contains 1 ELM2 domain.
  • Contains 1 SANT domain.
Similarity:
  • Contains 1 GATA-type zinc finger.
genes like me logo Genes that share domains with RERE: view

Function for RERE Gene

Molecular function for RERE Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RERE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with RERE: view
genes like me logo Genes that share phenotypes with RERE: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RERE Gene

Localization for RERE Gene

Subcellular locations from UniProtKB/Swiss-Prot for RERE Gene

Nucleus. Note=Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RERE Gene COMPARTMENTS Subcellular localization image for RERE gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for RERE Gene

Pathways & Interactions for RERE Gene

SuperPathways for RERE Gene

No Data Available

Gene Ontology (GO) - Biological Process for RERE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0021549 cerebellum development IEA --
GO:0021691 cerebellar Purkinje cell layer maturation IEA --
GO:0021930 cerebellar granule cell precursor proliferation IEA --
genes like me logo Genes that share ontologies with RERE: view

No data available for Pathways by source and SIGNOR curated interactions for RERE Gene

Drugs & Compounds for RERE Gene

(1) Drugs for RERE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RERE: view

Transcripts for RERE Gene

Unigene Clusters for RERE Gene

Arginine-glutamic acid dipeptide (RE) repeats:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RERE Gene

No ASD Table

Relevant External Links for RERE Gene

GeneLoc Exon Structure for
RERE
ECgene alternative splicing isoforms for
RERE

Expression for RERE Gene

mRNA expression in normal human tissues for RERE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RERE Gene

This gene is overexpressed in Urine (42.2), Islet of Langerhans (8.1), and Testis (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RERE Gene



SOURCE GeneReport for Unigene cluster for RERE Gene Hs.463041

mRNA Expression by UniProt/SwissProt for RERE Gene

Q9P2R6-RERE_HUMAN
Tissue specificity: Widely expressed. Expressed in tumor cell lines.
genes like me logo Genes that share expression patterns with RERE: view

Protein tissue co-expression partners for RERE Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RERE Gene

Orthologs for RERE Gene

This gene was present in the common ancestor of animals.

Orthologs for RERE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RERE 35
  • 90.13 (n)
  • 95.85 (a)
RERE 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RERE 35
  • 90.64 (n)
  • 96.48 (a)
RERE 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rere 35
  • 87.8 (n)
  • 94.51 (a)
Rere 16
Rere 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RERE 35
  • 99.51 (n)
  • 99.74 (a)
RERE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rere 35
  • 86.18 (n)
  • 92.61 (a)
oppossum
(Monodelphis domestica)
Mammalia RERE 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RERE 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves RERE 35
  • 80.02 (n)
  • 90.17 (a)
RERE 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RERE 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rere 35
  • 73.16 (n)
  • 84.75 (a)
zebrafish
(Danio rerio)
Actinopterygii rerea 35
  • 72.33 (n)
  • 79.37 (a)
rerea 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gug 37
  • 62 (a)
Gug 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-27 37
  • 32 (a)
egl-27 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for RERE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RERE Gene

ENSEMBL:
Gene Tree for RERE (if available)
TreeFam:
Gene Tree for RERE (if available)

Paralogs for RERE Gene

Paralogs for RERE Gene

(3) SIMAP similar genes for RERE Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for RERE Gene

genes like me logo Genes that share paralogs with RERE: view

Variants for RERE Gene

Sequence variations from dbSNP and Humsavar for RERE Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3030 -- 8,411,429(+) TATCT(A/G)CCCTG intron-variant
rs8627 -- 8,352,875(-) TGAAA(A/G)CCGTC utr-variant-3-prime
rs12864 -- 8,361,179(-) CCACA(G/T)GGCTC reference, missense
rs13596 -- 8,361,143(-) CAGCC(A/G)CAGGC reference, synonymous-codon
rs159959 -- 8,454,736(-) CCTCC(A/G)CCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RERE Gene

Variant ID Type Subtype PubMed ID
nsv871164 CNV Loss 21882294
nsv516827 CNV Loss 19592680
nsv819494 CNV Gain 19587683
esv990980 CNV Insertion 20482838
esv273761 CNV Insertion 20981092
esv271602 CNV Insertion 20981092
esv2674889 CNV Deletion 23128226
nsv524946 CNV Loss 19592680
esv270262 CNV Insertion 20981092
esv268185 CNV Insertion 20981092
esv2658508 CNV Deletion 23128226
esv25533 CNV Loss 19812545
nsv159615 CNV Loss 16902084
nsv826919 CNV Gain 20364138
esv26500 CNV Gain+Loss 19812545
nsv827030 CNV Loss 20364138
esv2743497 CNV Deletion 23290073
esv2743508 CNV Deletion 23290073
esv2407042 CNV Deletion 18987734
esv27511 CNV Gain 19812545
nsv827141 CNV Gain 20364138
esv2743519 CNV Deletion 23290073
esv2384996 CNV Deletion 18987734
esv2743530 CNV Deletion 23290073
esv2743541 CNV Deletion 23290073
esv2743552 CNV Deletion 23290073
nsv871184 CNV Loss 21882294
nsv871221 CNV Loss 21882294
nsv483143 CNV Gain 15286789
esv25426 CNV Loss 19812545
nsv871694 CNV Gain 21882294
nsv871022 CNV Loss 21882294
nsv1854 CNV Insertion 18451855

Variation tolerance for RERE Gene

Residual Variation Intolerance Score: 0.885% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RERE Gene

HapMap Linkage Disequilibrium report
RERE
Human Gene Mutation Database (HGMD)
RERE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RERE Gene

Disorders for RERE Gene

MalaCards: The human disease database

(6) MalaCards diseases for RERE Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
actinomycosis
  • actinomycetoma
aortitis
  • aortitis nos
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
chromosome 1p36 deletion syndrome
  • 1p36 deletion syndrome
mediastinitis
- elite association - COSMIC cancer census association via MalaCards
Search RERE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RERE_HUMAN
  • Note=A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation t(1;15)(p36.2;q24).

Relevant External Links for RERE

Genetic Association Database (GAD)
RERE
Human Genome Epidemiology (HuGE) Navigator
RERE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RERE
genes like me logo Genes that share disorders with RERE: view

No data available for Genatlas for RERE Gene

Publications for RERE Gene

  1. Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. (PMID: 10814707) Yanagisawa H. … Yamada M. (Hum. Mol. Genet. 2000) 2 3 4 23 67
  2. Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells. (PMID: 19131340) Hou R. … Sibinga N.E. (J. Biol. Chem. 2009) 3 23
  3. Atrophin recruits HDAC1/2 and G9a to modify histone H3K9 and to determine cell fates. (PMID: 18451879) Wang L. … Tsai C.C. (EMBO Rep. 2008) 3 23
  4. Functional architecture of atrophins. (PMID: 17150957) Shen Y. … Peterson A.S. (J. Biol. Chem. 2007) 3 23
  5. Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors. (PMID: 16481466) Wang L. … Tsai C.C. (Genes Dev. 2006) 3 23

Products for RERE Gene

Sources for RERE Gene

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