ESCO2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ESCO2 (HGNC:27230) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
establishment of sister chromatid cohesion N-acetyltransferase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RBS
Alias symbols
EFO2
%HI
44.83(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
8p21.1
Genomic Coordinates
GRCh37/hg19: chr8:27632071-27662833 NCBI Ensembl UCSC
GRCh38/hg38: chr8:27771974-27819660 NCBI Ensembl UCSC
MANE Select Transcript
NM_001017420.3 ENST00000305188.13 (Read more about MANE Select)
Function
Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234). {ECO:0000269|PubMed:15821733, ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496, ECO:00... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12580
ClinGen Curation ID:
CCID:007087
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Roberts-SC phocomelia syndrome Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)