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    ENY2 ENY2 transcription and export complex 2 subunit [ Homo sapiens (human) ]

    Gene ID: 56943, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ENY2provided by HGNC
    Official Full Name
    ENY2 transcription and export complex 2 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:24449
    See related
    Ensembl:ENSG00000120533 MIM:619015; AllianceGenome:HGNC:24449
    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
    DC6; Sus1; e(y)2
    Summary
    Enables nuclear receptor coactivator activity. Involved in poly(A)+ mRNA export from nucleus; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Located in mitochondrion and nucleoplasm. Part of SAGA complex and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 15.2), bone marrow (RPKM 14.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENY2 in Genome Data Viewer
    Location:
    8q23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (109334347..109345954)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (110462889..110474496)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (110346576..110358183)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak7149 silencer Neighboring gene thyrotropin releasing hormone receptor Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:110151240-110152227 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:110274967-110275602 Neighboring gene NudC domain containing 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:110332106-110332753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27805 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:110346420-110347342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19469 Neighboring gene PKHD1 like 1 Neighboring gene suppressor of cytokine signaling 5 pseudogene Neighboring gene mitogen-activated protein kinase 6 pseudogene 5

    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
    • 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. ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth. Atanassov BS, et al. Mol Cell, 2016 May 19. PMID 27132940, Free PMC Article
    2. USP22 Interacts with PALB2 and Promotes Chemotherapy Resistance via Homologous Recombination of DNA Double-Strand Breaks. Nardi IK, et al. Mol Cancer Res, 2020 Mar. PMID 31685642, Free PMC Article
    3. The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements. Lang G, et al. Mol Cell Biol, 2011 Sep. PMID 21746879, Free PMC Article
    4. The novel transcription factor e(y)2 interacts with TAF(II)40 and potentiates transcription activation on chromatin templates. Georgieva S, et al. Mol Cell Biol, 2001 Aug. PMID 11438676, Free PMC Article
    5. The human TREX-2 complex is stably associated with the nuclear pore basket. Umlauf D, et al. J Cell Sci, 2013 Jun 15. PMID 23591820

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20480

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in poly(A)+ mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in poly(A)+ mRNA export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of RNA splicing 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
    		  
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription elongation by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of DUBm complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of DUBm complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SAGA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SAGA complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SAGA complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nuclear pore nuclear basket IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of transcription export complex 2 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFTC complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription and mRNA export factor ENY2
    Names
    enhancer of yellow 2 homolog
    enhancer of yellow 2 transcription factor homolog

    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_001193557.2 → NP_001180486.1  transcription and mRNA export factor ENY2 isoform 2

      See identical proteins and their annotated locations for NP_001180486.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site, which results in the use of a downstream, in-frame, start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AK095651, BU737295, DA548665, DB168034
      Consensus CDS
      CCDS55270.1
      UniProtKB/Swiss-Prot
      Q9NPA8
      Related
      ENSP00000429713.1, ENST00000521662.5
      Conserved Domains (1) summary
      pfam10163
      Location:11 → 89
      EnY2; Transcription factor e(y)2

    2. NM_020189.6 → NP_064574.1  transcription and mRNA export factor ENY2 isoform 1

      See identical proteins and their annotated locations for NP_064574.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
      Source sequence(s)
      AF173296, AK095651, BU737295
      Consensus CDS
      CCDS43762.1
      UniProtKB/Swiss-Prot
      B2RE52, G3V117, Q9NPA8
      Related
      ENSP00000429986.1, ENST00000521688.6
      Conserved Domains (1) summary
      pfam10163
      Location:16 → 94
      EnY2; Transcription factor e(y)2

    RNA

    1. NR_036471.2 RNA Sequence

      Status: VALIDATED

      Description
      This variant (3) uses a different splice site in the 3' end, compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK095651, BU737295, DA762166

    2. NR_036472.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses a different splice site in the 3' end, compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK095651, BU737295
      Related
      ENST00000517311.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      109334347..109345954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      110462889..110474496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPA8.1 GenPept UniProtKB/Swiss-Prot:Q9NPA8

    Gene LinkOut

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

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