ELL2

Chr 5

elongation factor for RNA polymerase II 2

Also known as: MRCCAT1

NCBI Gene: 22936ENSG00000118985UniProt: O00472

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]

0
ClinVar variants
0
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— ELL2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.24LOEUF
pLI 0.998
Z-score 4.73
OE 0.09 (0.04–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.55Z-score
OE missense 0.76 (0.69–0.85)
261 obs / 341.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.09 (0.04–0.24)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.76 (0.69–0.85)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 3 / 31.7Missense obs/exp: 261 / 341.4Syn Z: -0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ELL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.
Swaminathan B et al.·Nat Commun
2015Meta-analysis
Regulation of ELL2 stability and polyubiquitination by EAF2 in prostate cancer cells.
Yang T et al.·Prostate
2018
Conditional deletion of ELL2 induces murine prostate intraepithelial neoplasia.
Pascal LE et al.·J Endocrinol
2017
The expression of androgen-responsive genes is up-regulated in the epithelia of benign prostatic hyperplasia.
O'Malley KJ et al.·Prostate
2009
Comprehensive analysis reveals key genes and environmental toxin exposures underlying treatment response in ulcerative colitis based on in-silico analysis and Mendelian randomization.
Huang Y et al.·Aging (Albany NY)
2023Review
Up-regulated microRNA-299 corrected with poor prognosis of glioblastoma multiforme patients by targeting ELL2.
Huang Q et al.·Jpn J Clin Oncol
2017Cohort
Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.
Li N et al.·Cell Rep
2017
Construct dysregulated miRNA-mRNA interaction networks to conjecture possible pathogenesis for Stomach adenocarcinomas.
Peng S et al.·Cancer Biomark
2024
Model for predicting prognosis and immunotherapy based on CD(+)8 T cells infiltration in neuroblastoma.
Bao W et al.·J Cancer Res Clin Oncol
2023Functional
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics.
Wu YH et al.·Cancer Epidemiol Biomarkers Prev
2018Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Identification of a Nuclear Localization Signal (NLS) in Human Transcription Elongation Factor ELL2.
Kohrt S et al.·Cell Biochem Funct
2024🔓 Open Access
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🔓 Open Access
Host cell factors stimulate HIV-1 transcription by antagonizing substrate-binding function of Siah1 ubiquitin ligase to stabilize transcription elongation factor ELL2.
Wu J et al.·Nucleic Acids Res
2020🔓 Open Access
ELL2 Is Required for the Growth and Survival of AR-Negative Prostate Cancer Cells.
Wang Z et al.·Cancer Manag Res
2020🔓 Open Access
Anti-apoptotic factor Birc3 is up-regulated by ELL2 knockdown and stimulates proliferation in LNCaP cells.
Wang Z et al.·Am J Clin Exp Urol
2019
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools