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    EPC2 enhancer of polycomb homolog 2 [ Homo sapiens (human) ]

    Gene ID: 26122, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EPC2provided by HGNC
    Official Full Name
    enhancer of polycomb homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:24543
    See related
    Ensembl:ENSG00000135999 MIM:611000; AllianceGenome:HGNC:24543
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPC-LIKE
    Summary
    Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex and nucleosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 10.6), endometrium (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPC2 in Genome Data Viewer
    Location:
    2q23.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (148644751..148787569)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (149095135..149237987)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (149402320..149545138)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907896 Neighboring gene OCT4 hESC enhancer GRCh37_chr2:149280763-149281300 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:149300377-149300570 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:149311371-149312328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:149317839-149318790 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:149335391-149336105 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:149336106-149336819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16618 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149371380-149371985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16619 Neighboring gene ribosomal protein S29 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:149402393-149402897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149435593-149436192 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53210 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:149596595-149596791 Neighboring gene RNA, U2 small nuclear 9, pseudogene Neighboring gene uncharacterized LOC101928526

    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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    Related articles in PubMed

    1. Enhancers of Polycomb EPC1 and EPC2 sustain the oncogenic potential of MLL leukemia stem cells. Huang X, et al. Leukemia, 2014 May. PMID 24166297, Free PMC Article
    2. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Kim S, et al. Neurology, 2011 Jan 4. PMID 21123754, Free PMC Article
    3. Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine. Jarjanazi H, et al. Hum Mutat, 2008 Apr. PMID 18330920
    4. Intronic RNAs mediate EZH2 regulation of epigenetic targets. Guil S, et al. Nat Struct Mol Biol, 2012 Jun 3. PMID 22659877
    5. The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes. Cai Y, et al. J Biol Chem, 2005 Apr 8. PMID 15647280

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EPC1 and EPC2 are components of a complex that directly or indirectly serves to prevent MYC accumulation and AML cell apoptosis, thus sustaining oncogenic potential
      Title: Enhancers of Polycomb EPC1 and EPC2 sustain the oncogenic potential of MLL leukemia stem cells.
    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: Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine.
    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 identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
    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

    • DKFZp566F2124

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nucleosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of piccolo histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    enhancer of polycomb homolog 2

    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.

    mRNA and Protein(s)

    1. NM_015630.4 → NP_056445.3  enhancer of polycomb homolog 2

      See identical proteins and their annotated locations for NP_056445.3

      Status: VALIDATED

      Source sequence(s)
      AC016763, AC017080, AK125789
      Consensus CDS
      CCDS46422.1
      UniProtKB/Swiss-Prot
      B3KWT7, D3DP89, Q52LR7, Q7L9J1, Q96RR7, Q9NUT8, Q9NVR1, Q9UFM9
      UniProtKB/TrEMBL
      Q53SN6
      Related
      ENSP00000258484.6, ENST00000258484.11
      Conserved Domains (2) summary
      pfam06752
      Location:577 → 807
      E_Pc_C; Enhancer of Polycomb C-terminus
      pfam10513
      Location:7 → 148
      EPL1; Enhancer of polycomb-like

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      148644751..148787569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510941.3 → XP_011509243.1  enhancer of polycomb homolog 2 isoform X1

      UniProtKB/TrEMBL
      Q53SN6
      Conserved Domains (2) summary
      pfam06752
      Location:575 → 805
      E_Pc_C; Enhancer of Polycomb C-terminus
      pfam10513
      Location:7 → 148
      EPL1; Enhancer of polycomb-like

    2. XM_011510943.4 → XP_011509245.1  enhancer of polycomb homolog 2 isoform X2

      UniProtKB/TrEMBL
      Q53SN6
      Conserved Domains (2) summary
      pfam06752
      Location:488 → 718
      E_Pc_C; Enhancer of Polycomb C-terminus
      pfam10513
      Location:26 → 59
      EPL1; Enhancer of polycomb-like

    3. XM_047443897.1 → XP_047299853.1  enhancer of polycomb homolog 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      149095135..149237987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341331.1 → XP_054197306.1  enhancer of polycomb homolog 2 isoform X1

    2. XM_054341332.1 → XP_054197307.1  enhancer of polycomb homolog 2 isoform X2

    3. XM_054341333.1 → XP_054197308.1  enhancer of polycomb homolog 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q52LR7.2 GenPept UniProtKB/Swiss-Prot:Q52LR7

    Gene LinkOut

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

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