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Aliases for ESCO2 Gene

Aliases for ESCO2 Gene

  • Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2 2 3
  • ECO1 Homolog 2 3 4
  • Establishment Of Cohesion 1 Homolog 2 (S. Cerevisiae) 2
  • Establishment Of Cohesion 1 Homolog 2 4
  • N-Acetyltransferase ESCO2 3
  • Roberts Syndrome 2
  • 2410004I17Rik 3
  • EC 2.3.1.- 4
  • EFO2 3
  • RBS 3

External Ids for ESCO2 Gene

Previous Symbols for ESCO2 Gene

  • RBS

Summaries for ESCO2 Gene

Entrez Gene Summary for ESCO2 Gene

  • 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]

GeneCards Summary for ESCO2 Gene

ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2) is a Protein Coding gene. Diseases associated with ESCO2 include sc phocomelia syndrome and roberts syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is ESCO1.

UniProtKB/Swiss-Prot for ESCO2 Gene

  • Acetyltransferase required for the establishment of sister chromatid cohesion. 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.

Gene Wiki entry for ESCO2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESCO2 Gene

Genomics for ESCO2 Gene

Genomic Location for ESCO2 Gene

Start:
27,771,949 bp from pter
End:
27,812,640 bp from pter
Size:
40,692 bases
Orientation:
Plus strand

Genomic View for ESCO2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ESCO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESCO2 Gene

Regulatory Elements for ESCO2 Gene

Proteins for ESCO2 Gene

  • Protein details for ESCO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q56NI9-ESCO2_HUMAN
    Recommended name:
    N-acetyltransferase ESCO2
    Protein Accession:
    Q56NI9
    Secondary Accessions:
    • B3KW59
    • Q49AP4

    Protein attributes for ESCO2 Gene

    Size:
    601 amino acids
    Molecular mass:
    68307 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ESCO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESCO2 Gene

Proteomics data for ESCO2 Gene at MOPED

Post-translational modifications for ESCO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ESCO2 Gene

No data available for DME Specific Peptides for ESCO2 Gene

Domains for ESCO2 Gene

Protein Domains for ESCO2 Gene

UniProtKB/Swiss-Prot:

ESCO2_HUMAN
Family:
  • Belongs to the acetyltransferase family. ECO subfamily.:
    • Q56NI9
genes like me logo Genes that share domains with ESCO2: view

No data available for Gene Families for ESCO2 Gene

Function for ESCO2 Gene

Molecular function for ESCO2 Gene

UniProtKB/Swiss-Prot Function: Acetyltransferase required for the establishment of sister chromatid cohesion. 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.

Enzyme Numbers (IUBMB) for ESCO2 Gene

Gene Ontology (GO) - Molecular Function for ESCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004468 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ESCO2: view
genes like me logo Genes that share phenotypes with ESCO2: view

Animal Models for ESCO2 Gene

MGI Knock Outs for ESCO2:

miRNA for ESCO2 Gene

miRTarBase miRNAs that target ESCO2

No data available for Transcription Factor Targeting and HOMER Transcription for ESCO2 Gene

Localization for ESCO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESCO2 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESCO2 Gene COMPARTMENTS Subcellular localization image for ESCO2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ESCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 19907496
GO:0001741 XY body IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with ESCO2: view

Pathways for ESCO2 Gene

genes like me logo Genes that share pathways with ESCO2: view

Pathways by source for ESCO2 Gene

Gene Ontology (GO) - Biological Process for ESCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006275 regulation of DNA replication IMP 19907496
GO:0006302 double-strand break repair IEA --
GO:0007059 chromosome segregation IEA --
genes like me logo Genes that share ontologies with ESCO2: view

Transcripts for ESCO2 Gene

Unigene Clusters for ESCO2 Gene

Establishment of cohesion 1 homolog 2 (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ESCO2 Gene

No ASD Table

Relevant External Links for ESCO2 Gene

GeneLoc Exon Structure for
ESCO2
ECgene alternative splicing isoforms for
ESCO2

Expression for ESCO2 Gene

mRNA expression in normal human tissues for ESCO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESCO2 Gene

This gene is overexpressed in Testis (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ESCO2 Gene

SOURCE GeneReport for Unigene cluster for ESCO2 Gene Hs.99480

mRNA Expression by UniProt/SwissProt for ESCO2 Gene

Q56NI9-ESCO2_HUMAN
Tissue specificity: Widely expressed in fetal tissues. In adult, it is expressed in thymus, placenta and small intestine.
genes like me logo Genes that share expressions with ESCO2: view

Orthologs for ESCO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESCO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESCO2 36
  • 99.22 (n)
  • 99.33 (a)
ESCO2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESCO2 36
  • 85.01 (n)
  • 78.69 (a)
ESCO2 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESCO2 36
  • 83.67 (n)
  • 76.45 (a)
ESCO2 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esco2 36
  • 80.79 (n)
  • 72.74 (a)
Esco2 16
Esco2 37
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 54 (a)
OneToMany
-- 37
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ESCO2 37
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esco2 36
  • 80.82 (n)
  • 72.62 (a)
chicken
(Gallus gallus)
Aves ESCO2 36
  • 59.16 (n)
  • 53.83 (a)
ESCO2 37
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESCO2 37
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esco2 36
  • 53.29 (n)
  • 45.87 (a)
Str.443 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9313 36
zebrafish
(Danio rerio)
Actinopterygii Dr.3337 36
esco2 36
  • 50.69 (n)
  • 44.38 (a)
esco2 37
  • 34 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011742 36
  • 42.49 (n)
  • 36.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta eco 37
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CTF7 36
  • 49.48 (n)
  • 37.33 (a)
rice
(Oryza sativa)
Liliopsida Os04g0498900 36
  • 51.72 (n)
  • 45.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8648 37
  • 40 (a)
OneToMany
Species with no ortholog for ESCO2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESCO2 Gene

ENSEMBL:
Gene Tree for ESCO2 (if available)
TreeFam:
Gene Tree for ESCO2 (if available)

Paralogs for ESCO2 Gene

Paralogs for ESCO2 Gene

Selected SIMAP similar genes for ESCO2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ESCO2: view

Variants for ESCO2 Gene

Sequence variations from dbSNP and Humsavar for ESCO2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs716258 -- 27,787,750(-) TAAGG(A/G/T)CAGGA intron-variant
rs958599 -- 27,787,509(-) GCTAT(A/G)AAGAA intron-variant
rs961334 -- 27,775,312(+) AAATA(C/T)AGGGT intron-variant
rs1052492 -- 27,776,814(+) AAATC(A/G)AGTGA missense, reference, nc-transcript-variant
rs1118754 -- 27,794,512(-) atttg(C/T)gtata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ESCO2 Gene

Variant ID Type Subtype PubMed ID
nsv890699 CNV Gain 21882294
nsv524133 CNV Loss 19592680
nsv519636 CNV Gain 19592680
nsv890700 CNV Loss 21882294
nsv397930 CNV Loss 16902084
esv3365 CNV Deletion 18987735

Relevant External Links for ESCO2 Gene

HapMap Linkage Disequilibrium report
ESCO2
Human Gene Mutation Database (HGMD)
ESCO2
Locus Specific Mutation Databases (LSDB)
ESCO2

Disorders for ESCO2 Gene

(2) OMIM Diseases for ESCO2 Gene (609353)

UniProtKB/Swiss-Prot

ESCO2_HUMAN
  • Roberts syndrome (RBS) [MIM:268300]: Rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect). {ECO:0000269 PubMed:15821733}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • SC phocomelia syndrome (SCPS) [MIM:269000]: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common. {ECO:0000269 PubMed:16380922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for ESCO2 Gene

Relevant External Links for ESCO2

GeneTests
ESCO2
GeneReviews
ESCO2
Genetic Association Database (GAD)
ESCO2
Human Genome Epidemiology (HuGE) Navigator
ESCO2
genes like me logo Genes that share disorders with ESCO2: view

Publications for ESCO2 Gene

  1. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. (PMID: 15821733) Vega H. … Joenje H. (Nat. Genet. 2005) 2 3 4 23
  2. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. (PMID: 19574259) Vega H. … Jabs E.W. (J. Med. Genet. 2010) 3 23 49
  3. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret M.E. … Jallepalli P.V. (Nature 2009) 3 4 23
  4. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (PMID: 16380922) Schuele B. … Francke U. (Am. J. Hum. Genet. 2005) 2 3 4
  5. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. (PMID: 16775838) Resta N. … Guanti G. (J. Cell. Physiol. 2006) 2 3

Products for ESCO2 Gene

Sources for ESCO2 Gene

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