ELP2

Chr 18

elongator acetyltransferase complex subunit 2

Also known as: MRT58, SHINC-2, STATIP1, StIP

NCBI Gene: 55250 ENSG00000134759 UniProt: Q6IA86

ELP2 encodes a core subunit of the elongator complex, which catalyzes essential tRNA modifications including carboxymethyluridine formation at the wobble base position and functions as a histone acetyltransferase that associates with RNA polymerase II for transcriptional elongation. Biallelic mutations cause autosomal recessive intellectual developmental disorder. This represents a relatively recently described cause of intellectual disability involving defects in tRNA modification pathways.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 58

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder with motor features · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.88

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ELP2