Gene

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

Cytogenetic location: 8p21.1
Coordinates: Chromosome 8: 27,774,554–27,805,316 (GRCh38)
Exons: 11 exons across 30.8 kb
Protein: 601 amino acids
Also known as: EFO2
Previous symbols: RBS
MANE Select transcript: ENST00000305188.13NM_001017420.3
Locus type: Protein-coding

Very high
Confident
Low
Very low

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Curated report relevant to this gene

Roberts Syndrome
- Roberts Syndrome (Including SC Phocomelia)Autosomal recessive
  Caused by loss-of-function changes in both copies of ESCO2, which encodes an enzyme needed for sister chromatid cohesion during cell division. A characteristic finding on chromosome testing is premature separation of the centromeres.
  - ClinGen rates the link definitive
  - 6 GenCC submitters rate it definitive or strong
  Actionability
  Care involves orthopaedic and limb support, cleft and craniofacial surgery, and developmental assessment. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.

How ESCO2 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.8 kb of the gene's 30.8 kb; 1,806 of those bases code for the protein.

Sequencing ESCO2

positions in ESCO2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 30.8 kb of ESCO2, introns included, not only the 3.8 kb of exons.

ClinVar pathogenic variants (78)

The ESCO2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

Pathogenic 19
Pathogenic/likely pathogenic 6
Likely pathogenic 53

Variant	Conditions	ClinVar classification	Review status
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) (opens in a new tab)	Roberts-SC phocomelia syndrome	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1131+1G>A (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) (opens in a new tab)	Roberts-SC phocomelia syndrome	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.955+2_955+5del (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1132-7A>G (opens in a new tab)	Roberts-SC phocomelia syndrome	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1654C>T (p.Arg552Ter) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.76_77del (p.Leu26fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.184_185insG (p.Thr62fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.196_199del (p.Asn66fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.491dup (p.Asn164fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.715_716del (p.Glu239fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs) (opens in a new tab)	Roberts-SC phocomelia syndrome	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.956-2A>G (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1427_1431del (p.Ile476fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1432del (p.Thr478fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) (opens in a new tab)	Roberts-SC phocomelia syndrome	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_001017420.3(ESCO2):c.1622del (p.Phe541fs) (opens in a new tab)	Juberg-Hayward syndrome and 1 other	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 78 with every other ESCO2 variant in ClinVar → (opens in a new tab)

Traits linked to ESCO2

The Human Phenotype Ontology lists these as features of the rare conditions ESCO2 can cause. Each trait's page lists the other genes linked to it.

Abnormality of limbs

Show 34 more traits

Abnormality of head or neck

Show 17 more traits

Abnormality of the eye

Show 3 more traits

Abnormality of the genitourinary system

Abnormality of the cardiovascular system

Growth abnormality

Abnormality of the ear

Abnormality of the musculoskeletal system

Abnormality of the nervous system

Abnormality of the digestive system

Abnormality of prenatal development or birth

Abnormality of the integument

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). ESCO2 gene: establishment of sister chromatid cohesion N-acetyltransferase 2. Retrieved 18 October 2026, from https://dantelabs.com/genes/esco2

Vancouver

Dante Labs. ESCO2 gene: establishment of sister chromatid cohesion N-acetyltransferase 2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/esco2

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