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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATXN7L3 and ENY2 orchestrate activities of multiple deubiquitinating enzymes, including USP27x and USP51, and that imbalances in these activities likely potentiate human diseases including cancer.
Title: ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth.
ATXN7L3, USP22, & ENY2 are required cofactors for full transcriptional activity by nuclear receptors. The deubiquitinase activity of TFTC/STAGA HAT counteracts heterochromatin silencing & is a positive cofactor for in vivo nuclear receptor activation.
Title: A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.

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

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

Eny2 (e-PCR), detects polymorphism
- UniSTS:471308

STS-H47347 (e-PCR)
- UniSTS:28977

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

RH16261 (e-PCR)
- UniSTS:21878

STS-N30904 (e-PCR)
- UniSTS:66181

RH70342 (e-PCR)
- UniSTS:69037

RH102871 (e-PCR)
- UniSTS:97205

RH98525 (e-PCR)
- UniSTS:83650

SHGC-34886 (e-PCR)
- UniSTS:61661

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)

NM_001193557.2 → NP_001180486.1 transcription and mRNA export factor ENY2 isoform 2

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

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
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