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

    Gene ID: 157570, updated on 27-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
    mouse all
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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
    • 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)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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