ESCO2

Chr 8

establishment of sister chromatid cohesion N-acetyltransferase 2

Also known as: 2410004I17Rik, EFO2, EFO2p, JHS, RBS, hEFO2

NCBI Gene: 157570 ENSG00000171320 UniProt: Q56NI9

This protein is an acetyltransferase required for establishing sister chromatid cohesion during DNA replication by acetylating the cohesin component SMC3. Mutations cause Roberts-SC phocomelia syndrome and Juberg-Hayward syndrome, autosomal recessive conditions characterized by severe limb defects, growth restriction, and craniofacial abnormalities that are typically evident at birth. The gene is not highly constrained against loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRoberts-SC phocomelia syndrome

UniProtJuberg-Hayward syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Roberts-SC phocomelia syndrome · 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)

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P/LP submissions

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P/LP missense

0.83

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ESCO2