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ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 157570, updated on 3-Nov-2024

Summary

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Official Symbol
ESCO2provided by HGNC
Official Full Name
establishment of sister chromatid cohesion N-acetyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:27230
See related
Ensembl:ENSG00000171320 MIM:609353; AllianceGenome:HGNC:27230
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Biased expression in testis (RPKM 3.1), duodenum (RPKM 2.9) and 13 other tissues See more
Orthologs
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Genomic context

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See ESCO2 in Genome Data Viewer
Location:
8p21.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (27771974..27819660)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (28046848..28097943)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27632071..27662833)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scavenger receptor class A member 3 Neighboring gene uncharacterized LOC124901920 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:27560651-27560796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:27562294-27562794 Neighboring gene microRNA 3622b Neighboring gene microRNA 3622a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27587170-27587710 Neighboring gene uncharacterized LOC107986934 Neighboring gene uncharacterized LOC124902093 Neighboring gene coiled-coil domain containing 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19051 Neighboring gene RNA, U6 small nuclear 1276, pseudogene Neighboring gene MPRA-validated peak6971 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27158 Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene PDZ binding kinase Neighboring gene SCARA5 intron CAGE-defined high expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27735141-27735642 Neighboring gene scavenger receptor class A member 5 Neighboring gene microRNA 4287

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ESCO2's oncogenic role in human tumors: a pan-cancer analysis and experimental validation. Huang Y, et al. BMC Cancer, 2024 Apr 11. PMID 38605349, Free PMC Article
  2. Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Tomkins D, et al. Am J Med Genet, 1979. PMID 495649
  3. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Schüle B, et al. Am J Hum Genet, 2005 Dec. PMID 16380922, Free PMC Article
  4. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. Resta N, et al. J Cell Physiol, 2006 Oct. PMID 16775838
  5. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Gordillo M, et al. Hum Mol Genet, 2008 Jul 15. PMID 18411254

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ESCO2's oncogenic role in human tumors: a pan-cancer analysis and experimental validation.
    Title: ESCO2's oncogenic role in human tumors: a pan-cancer analysis and experimental validation.
  2. Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal cancer development.
    Title: Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal cancer development.
  3. Symmetric control of sister chromatid cohesion establishment.
    Title: Symmetric control of sister chromatid cohesion establishment.
  4. Upregulation of KAT2B and ESCO2 gene expression level in patients with rheumatoid arthritis.
    Title: Upregulation of KAT2B and ESCO2 gene expression level in patients with rheumatoid arthritis.
  5. Long noncoding RNA ZFPM2-AS1 regulates renal cell carcinoma progression via miR-130a-3p/ESCO2.
    Title: Long noncoding RNA ZFPM2-AS1 regulates renal cell carcinoma progression via miR-130a-3p/ESCO2.
  6. Effects of ESCO2 or its methylation on the prognosis, clinical characteristics, immune microenvironment, and pathogenesis of low-grade glioma.
    Title: Effects of ESCO2 or its methylation on the prognosis, clinical characteristics, immune microenvironment, and pathogenesis of low-grade glioma.
  7. ESCO2 promotes lung adenocarcinoma progression by regulating hnRNPA1 acetylation.
    Title: ESCO2 promotes lung adenocarcinoma progression by regulating hnRNPA1 acetylation.
  8. Establishment of cohesion 1 homolog 2 facilitates cell aggressive behaviors and induces poor prognosis in renal cell carcinoma.
    Title: Establishment of cohesion 1 homolog 2 facilitates cell aggressive behaviors and induces poor prognosis in renal cell carcinoma.
  9. Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.
    Title: Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.
  10. Alternative catalytic residues in the active site of Esco acetyltransferases.
    Title: Alternative catalytic residues in the active site of Esco acetyltransferases.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Juberg-Hayward syndrome
MedGen: C0796099 OMIM: 216100 GeneReviews: Not available
Compare labs
Roberts-SC phocomelia syndrome
MedGen: C0392475 OMIM: 268300 GeneReviews: ESCO2 Spectrum Disorder
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyltransferase activity TAS
Traceable Author Statement
more info
  
enables acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peptide-lysine-N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromosome segregation IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair IEA
Inferred from Electronic Annotation
more info
  
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in post-translational protein acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to chromatin IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sister chromatid cohesion TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in XY body IEA
Inferred from Electronic Annotation
more info
  
located_in cell junction IDA
Inferred from Direct Assay
more info
  
located_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromocenter IEA
Inferred from Electronic Annotation
more info
  
located_in chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in pericentric heterochromatin IEA
Inferred from Electronic Annotation
more info
  
located_in site of double-strand break IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
N-acetyltransferase ESCO2
Names
ECO1 homolog 2
establishment factor-like protein 2
NP_001017420.1
XP_011542723.1
XP_011542724.1
XP_054215786.1
XP_054215787.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008117.1 RefSeqGene

    Range
    5014..35776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017420.3 → NP_001017420.1  N-acetyltransferase ESCO2

    See identical proteins and their annotated locations for NP_001017420.1

    Status: REVIEWED

    Source sequence(s)
    AC104997, AF306679, AY882862
    Consensus CDS
    CCDS34872.1
    UniProtKB/Swiss-Prot
    B3KW59, Q49AP4, Q56NI9
    Related
    ENSP00000306999.8, ENST00000305188.13
    Conserved Domains (2) summary
    pfam13878
    Location:374 → 413
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:529 → 591
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    27771974..27819660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544421.3 → XP_011542723.1  N-acetyltransferase ESCO2 isoform X1

    See identical proteins and their annotated locations for XP_011542723.1

    UniProtKB/Swiss-Prot
    B3KW59, Q49AP4, Q56NI9
    Conserved Domains (2) summary
    pfam13878
    Location:374 → 413
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:529 → 591
    Acetyltransf_13; ESCO1/2 acetyl-transferase

  2. XM_011544422.3 → XP_011542724.1  N-acetyltransferase ESCO2 isoform X2

    Conserved Domains (2) summary
    pfam13878
    Location:374 → 413
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:529 → 591
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RNA

  1. XR_949378.4 RNA Sequence

  2. XR_007060703.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    28046848..28097943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359811.1 → XP_054215786.1  N-acetyltransferase ESCO2 isoform X1

    UniProtKB/Swiss-Prot
    B3KW59, Q49AP4, Q56NI9

  2. XM_054359812.1 → XP_054215787.1  N-acetyltransferase ESCO2 isoform X2

RNA

  1. XR_008487810.1 RNA Sequence

  2. XR_008487811.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q56NI9.1 GenPept UniProtKB/Swiss-Prot:Q56NI9

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