ELP2

Chr 18q12.2

elongator acetyltransferase complex subunit 2

Aliases:: FLJ10879, StIP
MANE:: ENST00000358232.11

OMIM: 616054 ↗NCBI: 55250 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ELP2 · Q6IA86

v62025-08-01

Predicted Aligned Error matrix for ELP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.3/ 100

Confident

826 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)18%
Low(50–70)6%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual disability, autosomal recessive 58
0.73
neurodegenerative disease
0.53
hereditary disease
0.50
Profound intellectual disability
0.38
response to xenobiotic stimulus
0.20
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
0.13
genetic developmental and epileptic encephalopathy
0.08
Young adult-onset Parkinsonism
0.08
juvenile Huntington disease
0.08
behavioral variant of frontotemporal dementia
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Elongator complex protein 2

Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244)