U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 26122, updated on 27-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
enhancer of polycomb homolog 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools