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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ELP4
elongator acetyltransferase complex subunit 4
Chromosome 11 Β· 11p13
NCBI Gene: 26610Ensembl: ENSG00000109911.19HGNC: HGNC:1171UniProt: G5E9D4
66PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription elongation factor complexnucleoplasmelongator holoenzyme complexregulation of transcription by RNA polymerase IIaniridiaisolated aniridianeurodegenerative diseasePeters anomaly
✦AI Summary

ELP4 (elongator acetyltransferase complex subunit 4) is a core component of the conserved Elongator complex, functioning as part of the accessory Elp456 subcomplex. ELP4 contributes to the Elongator's primary role in catalyzing multiple tRNA modifications, including mcm5U, mcm5s2U, ncm5U, and carboxymethyluridine at the wobble position 34 of tRNAs 1. The Elp456 subcomplex possesses ATP-modulated tRNA binding activity 1, with ELP4 forming a RecA-ATPase-like fold structure critical for ring-shaped assembly and substrate recognition 2. Clinically, ELP4 mutations cause neurodevelopmental disorders through impaired tRNA modification activity. Pathogenic variants in ELP4 are associated with developmental delay, epilepsy, intellectual disability, and motor dysfunction 3. Copy-number deletions of ELP4 are linked to language impairment, autism spectrum disorder, and mental retardation, with significantly elevated prevalence in affected individuals compared to controls 4. ELP4 variants also correlate with intracranial arachnoid cyst severity, affecting inflammatory markers 5. Unlike Elp123 mutations, Elp456 mutations demonstrate distinct neuropathology in animal models, revealing previously unrecognized functional divergence of Elongator subcomplexes during neurodevelopment 3. The functional conservation between human and yeast ELP4 suggests mechanistic insights into both disease pathogenesis and potential therapeutic approaches 6.

Sources cited
1
ELP4 component of Elongator complex required for tRNA modifications including mcm5U, mcm5s2U, ncm5U, and carboxymethyluridine synthesis at wobble position 34
PMID: 29332244
2
ELP4 forms RecA-ATPase-like fold structure; Elp456 subcomplex forms ring-shaped assembly important for substrate recognition
PMID: 22556426
3
ELP4 mutations cause developmental delay, epilepsy, intellectual disability, and motor dysfunction through impaired tRNA modification activity; Elp456 mutations show distinct neuropathology from Elp123 mutations
PMID: 35698786
4
ELP4 microdeletions significantly associated with language impairment, autism spectrum disorder, and mental retardation with higher prevalence in cases than controls
PMID: 26010655
5
ELP4 rs986527 polymorphism associated with clinical symptoms and inflammatory markers in intracranial arachnoid cyst patients
PMID: 31743616
6
Human ELP4 partially complements yeast ELP4 deletion phenotypes, demonstrating functional conservation
PMID: 15473317
7
Elongator complex highly conserved with distinct roles for Elp123 and Elp456 subcomplexes in neuronal development and disease
PMID: 36448458
Disease Associationsβ“˜21
aniridiaOpen Targets
0.59Moderate
isolated aniridiaOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
Peters anomalyOpen Targets
0.49Moderate
foveal hypoplasia 1Open Targets
0.45Moderate
coloboma of optic nerveOpen Targets
0.44Moderate
morning glory syndromeOpen Targets
0.44Moderate
autosomal dominant keratitisOpen Targets
0.41Moderate
WAGR syndromeOpen Targets
0.41Moderate
isolated optic nerve hypoplasiaOpen Targets
0.34Weak
colobomaOpen Targets
0.34Weak
autism spectrum disorderOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.32Weak
Cognitive impairmentOpen Targets
0.32Weak
SeizureOpen Targets
0.32Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
conjunctival disorderOpen Targets
0.28Weak
NystagmusOpen Targets
0.27Weak
HypertelorismOpen Targets
0.27Weak
Visual impairmentOpen Targets
0.27Weak
Aniridia 2UniProt
Pathogenic Variants3
NM_019040.5(ELP4):c.1143+14176C>APathogenic
Aniridia 1
β˜†β˜†β˜†β˜†2013
NM_019040.5(ELP4):c.886C>A (p.Leu296Ile)Likely pathogenic
Global developmental delay;Seizure;Cognitive impairment
β˜†β˜†β˜†β˜†β†’ Residue 296
NM_019040.5(ELP4):c.272A>G (p.Tyr91Cys)Likely pathogenic
Seizure;Cognitive impairment;Global developmental delay
β˜†β˜†β˜†β˜†β†’ Residue 91
View on ClinVar β†—
Related Genes
CDC73Protein interaction100%SUPT5HProtein interaction100%LEO1Protein interaction100%ERCC6Protein interaction98%CDK9Protein interaction97%MLLT1Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
76%
Bone Marrow
76%
Liver
44%
Ovary
42%
Lung
38%
Gene Interaction Network
Click a node to explore
ELP4CDC73SUPT5HLEO1ERCC6CDK9MLLT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96EB1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.01 [0.76–1.38]
RankingsWhere ELP4 stands among ~20K protein-coding genes
  • #7,058of 20,598
    Most Researched66
  • #4,038of 5,498
    Most Pathogenic Variants3
  • #14,348of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedELP4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
PMID: 24995671
Epilepsia Β· 2014
1.00
2
Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst.
PMID: 31743616
Brain Behav Β· 2019
0.90
3
Elongator and the role of its subcomplexes in human diseases.
PMID: 36448458
EMBO Mol Med Β· 2023
0.80
4
Structural insights into the function of Elongator.
PMID: 29332244
Cell Mol Life Sci Β· 2018
0.70
5
Functional divergence of the two Elongator subcomplexes during neurodevelopment.
PMID: 35698786
EMBO Mol Med Β· 2022
0.60