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

Gene ID: 26122, updated on 23-Nov-2023

Summary

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
Predicted to contribute to histone acetyltransferase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of Piccolo NuA4 histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 10.6), endometrium (RPKM 9.8) and 25 other tissues See more
Orthologs
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Genomic context

See EPC2 in Genome Data Viewer
Location:
2q23.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (148644751..148787569)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (149095135..149237987)
105.20220307 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp566F2124

Gene Ontology Provided by GOA

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

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_015630.4NP_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:577807
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:7148
    EPL1; Enhancer of polycomb-like

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    Q53SN6
    Conserved Domains (2) summary
    pfam06752
    Location:575805
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:7148
    EPL1; Enhancer of polycomb-like
  2. XM_011510943.4XP_011509245.1  enhancer of polycomb homolog 2 isoform X2

    UniProtKB/TrEMBL
    Q53SN6
    Conserved Domains (2) summary
    pfam06752
    Location:488718
    E_Pc_C; Enhancer of Polycomb C-terminus
    pfam10513
    Location:2659
    EPL1; Enhancer of polycomb-like
  3. XM_047443897.1XP_047299853.1  enhancer of polycomb homolog 2 isoform X3

    UniProtKB/TrEMBL
    Q53SN6

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_054341331.1XP_054197306.1  enhancer of polycomb homolog 2 isoform X1

    UniProtKB/TrEMBL
    Q53SN6
  2. XM_054341332.1XP_054197307.1  enhancer of polycomb homolog 2 isoform X2

    UniProtKB/TrEMBL
    Q53SN6
  3. XM_054341333.1XP_054197308.1  enhancer of polycomb homolog 2 isoform X3

    UniProtKB/TrEMBL
    Q53SN6