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ELL2 elongation factor for RNA polymerase II 2 [ Homo sapiens (human) ]

Gene ID: 22936, updated on 3-Apr-2024

Summary

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Official Symbol
ELL2provided by HGNC
Official Full Name
elongation factor for RNA polymerase II 2provided by HGNC
Primary source
HGNC:HGNC:17064
See related
Ensembl:ENSG00000118985 MIM:601874; AllianceGenome:HGNC:17064
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
MRCCAT1
Summary
Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 18.5), salivary gland (RPKM 14.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ELL2 in Genome Data Viewer
Location:
5q15
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95885098..95961851, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (96386338..96463172, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95220802..95297555, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901029 Neighboring gene uncharacterized LOC105379091 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:95197672-95198871 Neighboring gene NANOG hESC enhancer GRCh37_chr5:95199127-95199628 Neighboring gene long intergenic non-protein coding RNA 1554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22813 Neighboring gene Sharpr-MPRA regulatory region 10583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16189 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:95297407-95298164 Neighboring gene uncharacterized LOC101929710 Neighboring gene uncharacterized LOC105379096 Neighboring gene Sharpr-MPRA regulatory region 2569 Neighboring gene fatty acid binding protein 5 pseudogene 5 Neighboring gene calpastatin Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:95401160-95402062

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. Characterizing the Interaction between the HTLV-1 Transactivator Tax-1 with Transcription Elongation Factor ELL2 and Its Impact on Viral Transactivation. Kohrt S, et al. Int J Mol Sci, 2021 Dec 18. PMID 34948391, Free PMC Article
  2. Upregulation of long noncoding RNA MRCCAT1 predicts poor prognosis and functions as an oncogene in glioma. Ma J, et al. Eur Rev Med Pharmacol Sci, 2018 Dec. PMID 30556882
  3. The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression. Ali M, et al. Nat Commun, 2018 Apr 25. PMID 29695719, Free PMC Article
  4. ELL2 regulates DNA non-homologous end joining (NHEJ) repair in prostate cancer cells. Zang Y, et al. Cancer Lett, 2018 Feb 28. PMID 29179998, Free PMC Article
  5. Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism. Li N, et al. Cell Rep, 2017 Sep 12. PMID 28903037, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Characterizing the Interaction between the HTLV-1 Transactivator Tax-1 with Transcription Elongation Factor ELL2 and Its Impact on Viral Transactivation.
    Title: Characterizing the Interaction between the HTLV-1 Transactivator Tax-1 with Transcription Elongation Factor ELL2 and Its Impact on Viral Transactivation.
  2. Allosteric transcription stimulation by RNA polymerase II super elongation complex.
    Title: Allosteric transcription stimulation by RNA polymerase II super elongation complex.
  3. MRCCAT1 is upregulated in glioma, predicting poor outcome for patients. MRCCAT1 promotes glioma cell proliferation and migration by activating p38-MAPK signaling.
    Title: Upregulation of long noncoding RNA MRCCAT1 predicts poor prognosis and functions as an oncogene in glioma.
  4. ELL2 protein was downregulated in prostate cancer specimens and was up-regulated by androgens in prostate cancer cell lines LNCaP and C4-2. ELL2 knockdown enhanced prostate cancer cell proliferation and motility.
    Title: Regulation of ELL2 stability and polyubiquitination by EAF2 in prostate cancer cells.
  5. Study in CD138+ plasma cells from 1630 multiple myeloma (MM) patients show that the MM risk allele at 5q15 lowers ELL2 expression in these cells, but not in peripheral blood or other tissues.
    Title: The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression.
  6. Study reports the 2.0-A resolution crystal structure of the human ELL2 C-terminal domain bound to its 50-residue binding site on AFF4, the ELLBow. The ELLBow consists of an N-terminal helix followed by an extended hairpin and occupies most of the concave surface of ELL2. This surface is important for the ability of ELL2 to promote HIV-1 Tat-mediated proviral transcription.
    Title: Structural basis for ELL2 and AFF4 activation of HIV-1 proviral transcription.
  7. Knockdown of RNA polymerase II elongation factor ELL2 (ELL2) sensitized prostate cancer cells to DNA damage and overexpression of ELL2 protected prostate cancer cells from DNA damage.
    Title: ELL2 regulates DNA non-homologous end joining (NHEJ) repair in prostate cancer cells.
  8. expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating multiple myeloma clonal expansion.
    Title: Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.
  9. Results provide the first evidence that ELL2 is a direct target of miR-299 and increased ELL2 expression and down-regulation of miR-299 are associated with GBM progression and poor prognosis in patients.
    Title: Up-regulated microRNA-299 corrected with poor prognosis of glioblastoma multiforme patients by targeting ELL2.
  10. Selective expression of the transcription elongation factor ELL3 in B cells prior to ELL2 drives proliferation and survival
    Title: Selective expression of the transcription elongation factor ELL3 in B cells prior to ELL2 drives proliferation and survival.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
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)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 replication requires ELL2, AFF4 and AFF1 for transcriptional elongation as shown through CRISPR/Cas genome editing PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Binding of isolated AFF1(1-308) CBS to CDK9/CycT1 prevents HIV-1 Tat from activating HIV transcription and assembling complete SECs (AFF1, AFF4, ELL2, and ENL). The AFF1(1-308) M60A/L61A mutant shows no suppression of Tat transactivation PubMed
tat HIV-1 Tat increases the amount of ELL2 bound to P-TEFb without affecting the AFF4-P-TEFb binding. CDK9 is required for the Tat-induced ELL2 accumulation and Tat interaction with ELL2 PubMed
tat Brd4 inhibits HIV-1 Tat-human super elongation complex (components AFF4, ELL2, CycT1, and CDK9) by competing with HIV-1 Tat for binding to P-TEFb on HIV-1 promoter PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription elongation by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in snRNA transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in snRNA transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transcription elongation by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of transcription elongation factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription elongation factor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
RNA polymerase II elongation factor ELL2
Names
ELL-related RNA polymerase II, elongation factor
elongation factor RNA for polymerase II 2
elongation factor, RNA polymerase II, 2
metastatic renal cell carcinoma-associated transcript 1

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_012081.6 → NP_036213.2  RNA polymerase II elongation factor ELL2

    See identical proteins and their annotated locations for NP_036213.2

    Status: VALIDATED

    Source sequence(s)
    AB209343, AV652801, BC028412, BC151238, BX538289
    Consensus CDS
    CCDS4080.1
    UniProtKB/Swiss-Prot
    B4DNK7, O00472
    UniProtKB/TrEMBL
    Q59FW6
    Related
    ENSP00000237853.4, ENST00000237853.9
    Conserved Domains (2) summary
    pfam07303
    Location:532 → 633
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:11 → 291
    ELL; RNA polymerase II elongation factor ELL

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    95885098..95961851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009240.3 → XP_016864729.1  RNA polymerase II elongation factor ELL2 isoform X3

    UniProtKB/TrEMBL
    Q59FW6
    Conserved Domains (3) summary
    pfam01690
    Location:252 → 484
    PLRV_ORF5; Potato leaf roll virus readthrough protein
    pfam07303
    Location:403 → 500
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:1 → 157
    ELL; RNA polymerase II elongation factor ELL

  2. XM_047416959.1 → XP_047272915.1  RNA polymerase II elongation factor ELL2 isoform X2

  3. XM_047416960.1 → XP_047272916.1  RNA polymerase II elongation factor ELL2 isoform X3

  4. XM_017009239.2 → XP_016864728.1  RNA polymerase II elongation factor ELL2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    96386338..96463172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352099.1 → XP_054208074.1  RNA polymerase II elongation factor ELL2 isoform X3

  2. XM_054352098.1 → XP_054208073.1  RNA polymerase II elongation factor ELL2 isoform X2

  3. XM_054352100.1 → XP_054208075.1  RNA polymerase II elongation factor ELL2 isoform X3

  4. XM_054352097.1 → XP_054208072.1  RNA polymerase II elongation factor ELL2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00472.2 GenPept UniProtKB/Swiss-Prot:O00472

Gene LinkOut

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