ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2

Gene ID: 157570, updated on 5-Mar-2024
Gene type: protein coding
Also known as: JHS; RBS; EFO2; EFO2p; hEFO2; 2410004I17Rik

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Juberg-Hayward syndrome MedGen: C0796099OMIM: 216100GeneReviews: Not available	See labs
Roberts-SC phocomelia syndrome MedGen: C0392475OMIM: 268300GeneReviews: ESCO2 Spectrum Disorder	See labs

Genomic context

Location:: 8p21.1

Sequence:: Chromosome: 8; NC_000008.11 (27771974..27819660)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ESCO2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Establishment of Cohesion 1 homolog 2 (ESCO2) @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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