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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ELP2
elongator acetyltransferase complex subunit 2
Chromosome 18 Β· 18q12.2
NCBI Gene: 55250Ensembl: ENSG00000134759.15HGNC: HGNC:18248UniProt: Q6IA86
66PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription elongation factor complexelongator holoenzyme complexRNA polymerase II complex bindingnucleoplasmintellectual disability, autosomal recessive 58neurodegenerative diseasegenetic disorderProfound intellectual disability
✦AI Summary

ELP2 encodes a critical component of the Elongator complex, a highly conserved multiprotein assembly essential for tRNA modifications and cellular functions 1. The protein forms part of the catalytic Elp123 subcomplex and is structurally characterized by two seven-bladed WD40 Ξ² propellers that are necessary for binding to Elp1 and Elp3 subunits 2. ELP2 serves as a hub for Elongator complex assembly and functional regulation, with its WD40 fold integrity being essential for complex formation across multiple species 2. The Elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs, including modifications like mcm5U, mcm5s2U, and ncm5U 1. ELP2 mutations cause significant neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, spastic paraplegias, and developmental epileptic encephalopathies 345. These mutations disrupt tRNA modification activity, leading to perturbed protein homeostasis, impaired neurogenesis, myelin loss, and neurodegeneration 3. The protein also binds microtubules through conserved alkaline residues and affects histone H3 acetylation activity 2. Recent studies have expanded the phenotypic spectrum associated with ELP2 mutations to include cortico-cerebellar atrophy, nodular heterotopia, and epilepsy 6.

Sources cited
1
ELP2 is component of Elongator complex required for tRNA modifications including mcm5U, mcm5s2U, and ncm5U, catalyzing carboxymethyluridine formation
PMID: 29332244
2
ELP2 has two seven-bladed WD40 Ξ² propellers essential for binding Elp1/Elp3, acts as hub for complex assembly, binds microtubules, and affects histone H3 acetylation
PMID: 25960406
3
ELP2 mutations cause intellectual disability and autism spectrum disorder by disrupting tRNA modification, protein homeostasis, neurogenesis, and causing neurodegeneration
PMID: 33976153
4
ELP2 variants identified as genetic cause of hereditary spastic paraplegias
PMID: 33813722
5
ELP2 mutations associated with developmental and epileptic encephalopathies
PMID: 36787709
6
ELP2 variants associated with expanded phenotype including cortico-cerebellar atrophy, nodular heterotopia and epilepsy
PMID: 34653680
Disease Associationsβ“˜21
intellectual disability, autosomal recessive 58Open Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.50Moderate
Profound intellectual disabilityOpen Targets
0.38Weak
response to xenobiotic stimulusOpen Targets
0.22Weak
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
hypermanganesemia with dystonia 2Open Targets
0.06Suggestive
autosomal recessive spinocerebellar ataxia 17Open Targets
0.06Suggestive
infantile-onset autosomal recessive nonprogressive cerebellar ataxiaOpen Targets
0.06Suggestive
spastic ataxia 2Open Targets
0.06Suggestive
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.06Suggestive
Young adult-onset ParkinsonismOpen Targets
0.05Suggestive
Dysequilibrium syndromeOpen Targets
0.05Suggestive
X-linked intellectual disability, Hedera typeOpen Targets
0.05Suggestive
Spinocerebellar ataxia type 40Open Targets
0.05Suggestive
spinocerebellar ataxia type 17Open Targets
0.05Suggestive
spinocerebellar ataxia type 12Open Targets
0.05Suggestive
Autosomal recessive spastic paraplegia type 32Open Targets
0.05Suggestive
dystonia 23Open Targets
0.05Suggestive
Intellectual developmental disorder, autosomal recessive 58UniProt
Pathogenic Variants17
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)Pathogenic
Intellectual disability, autosomal recessive 58|Profound intellectual disability|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 462
NM_018255.4(ELP2):c.1714del (p.Cys572fs)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 572
NM_018255.4(ELP2):c.617A>G (p.His206Arg)Pathogenic
Inborn genetic diseases|ELP2-related disorder|Intellectual disability, autosomal recessive 58|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 206
NM_018255.4(ELP2):c.574C>T (p.Gln192Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 192
NM_018255.4(ELP2):c.2065C>T (p.Arg689Ter)Likely pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2024β†’ Residue 689
NM_018255.4(ELP2):c.907C>T (p.Gln303Ter)Pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2024β†’ Residue 303
NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)Pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2024β†’ Residue 140
NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)Likely pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2024β†’ Residue 487
NM_018255.4(ELP2):c.2237del (p.Cys746fs)Likely pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2023β†’ Residue 746
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)Likely pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2022β†’ Residue 695
NM_018255.4(ELP2):c.1741_1742del (p.Leu581fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 581
NM_018255.4(ELP2):c.1518_1521del (p.Asn506fs)Likely pathogenic
not provided|ELP2-related disorder
β˜…β˜†β˜†β˜†2018β†’ Residue 506
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)Pathogenic
Intellectual disability, autosomal recessive 58
β˜…β˜†β˜†β˜†2018β†’ Residue 553
NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)Pathogenic
Intellectual disability, autosomal recessive 58
β˜†β˜†β˜†β˜†2011β†’ Residue 462
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro)Pathogenic
Intellectual disability, autosomal recessive 58
β˜†β˜†β˜†β˜†2011β†’ Residue 555
NM_018255.4(ELP2):c.2460_2461del (p.Arg820fs)Likely pathogenic
Profound intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 820
NM_018255.4(ELP2):c.1214C>T (p.Thr405Ile)Likely pathogenic
Profound intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 405
View on ClinVar β†—
Related Genes
CDC73Protein interaction100%SUPT5HProtein interaction100%CTR9Protein interaction100%RTF1Protein interaction100%LEO1Protein interaction100%SUPT4H1Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Liver
75%
Heart
73%
Brain
68%
Bone Marrow
56%
Lung
44%
Gene Interaction Network
Click a node to explore
ELP2CDC73SUPT5HCTR9RTF1LEO1SUPT4H1
PROTEIN STRUCTURE
Preparing viewer…
PDB8PTX Β· 2.87 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.58–0.87]
RankingsWhere ELP2 stands among ~20K protein-coding genes
  • #7,057of 20,598
    Most Researched66
  • #2,347of 5,498
    Most Pathogenic Variants17
  • #7,655of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedELP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.
PMID: 33813722
Acta Neurol Belg Β· 2022
1.00
2
ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.
PMID: 34653680
Eur J Med Genet Β· 2021
0.90
3
Elongator and the role of its subcomplexes in human diseases.
PMID: 36448458
EMBO Mol Med Β· 2023
0.80
4
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
PMID: 33976153
Nat Commun Β· 2021
0.70
5
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic
PMID: 36787709
Neurocase Β· 2022
0.60