Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ESCO2 Gene

Aliases for ESCO2 Gene

  • Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2 2 3 5
  • 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 HGNC Symbols for ESCO2 Gene

  • RBS

Previous GeneCards Identifiers for ESCO2 Gene

  • GC08P027688
  • GC08P027689
  • GC08P027692
  • GC08P027695
  • GC08P027632
  • GC08P026176

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 Roberts Syndrome and Sc Phocomelia Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include lysine N-acetyltransferase activity, acting on acetyl phosphate as donor. 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

Additional gene information for ESCO2 Gene

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

Genomics for ESCO2 Gene

GeneHancer (GH) Regulatory Elements for ESCO2 Gene

Promoters and enhancers for ESCO2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I027771 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 561.7 +2.1 2072 4 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CCDC25 ESCO2 GC08P027774 RNU6-1276P CLU ELP3 SCARA3
GH08I027769 Enhancer 0.4 ENCODE 560.2 -1.8 -1763 1 ZNF335 JUND JUN ESCO2 CCDC25 ENSG00000253875
GH08I027835 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 14.9 +65.9 65905 3.1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 ZNF766 ZNF207 ZNF143 PBK LOC100130612 CCDC25 ESCO2 RNU6-1276P
GH08I027372 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 -393.6 -393636 9.9 HDGF PKNOX1 SMAD1 RB1 BATF KLF5 ZNF207 ZNF143 ETV6 BCLAF1 PTK2B CCDC25 ESCO2 RNU6-1276P MIR6842
GH08I027727 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.7 -44.1 -44077 0.4 RB1 ARID4B ZNF48 RAD21 RFX5 ZNF143 CREM THAP11 MIXL1 ZNF654 CCDC25 CLU ESCO2 RNU6-1276P ENSG00000253875 MIR3622B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ESCO2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESCO2 gene promoter:

Genomic Locations for ESCO2 Gene

Genomic Locations for ESCO2 Gene
chr8:27,771,477-27,812,640
(GRCh38/hg38)
Size:
41,164 bases
Orientation:
Plus strand
chr8:27,629,466-27,670,157
(GRCh37/hg19)

Genomic View for ESCO2 Gene

Genes around ESCO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESCO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESCO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for ESCO2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ESCO2 Gene

Domains & Families for ESCO2 Gene

Gene Families for ESCO2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ESCO2 Gene

Suggested Antigen Peptide Sequences for ESCO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q56NI9

UniProtKB/Swiss-Prot:

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

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

Phenotypes From GWAS Catalog 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:0008080 N-acetyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups 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

Human Phenotype Ontology for ESCO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESCO2 Gene

MGI Knock Outs for ESCO2:

miRNA for ESCO2 Gene

miRTarBase miRNAs that target ESCO2

Clone Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESCO2 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleus (3)
See all subcellular structures

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:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with ESCO2: view

Pathways & Interactions 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:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006275 regulation of DNA replication IMP 19907496
GO:0006302 double-strand break repair IEA --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
genes like me logo Genes that share ontologies with ESCO2: view

No data available for SIGNOR curated interactions for ESCO2 Gene

Drugs & Compounds for ESCO2 Gene

No Compound Related Data Available

Transcripts for ESCO2 Gene

Unigene Clusters for ESCO2 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.4).

Protein differential expression in normal tissues from HIPED for ESCO2 Gene

This gene is overexpressed in Stomach (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ESCO2 Gene



Protein tissue co-expression partners for ESCO2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESCO2 Gene:

ESCO2

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for ESCO2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • aorta
  • clavicle
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ESCO2: view

No data available for Evidence on tissue expression from TISSUES for ESCO2 Gene

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 33 34
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia ESCO2 34 33
  • 85.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ESCO2 34 33
  • 83.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esco2 33
  • 80.82 (n)
mouse
(Mus musculus)
Mammalia Esco2 16 34 33
  • 80.79 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 54 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ESCO2 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESCO2 34 33
  • 59.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESCO2 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esco2 33
  • 53.29 (n)
Str.443 33
zebrafish
(Danio rerio)
Actinopterygii esco2 34 33
  • 50.69 (n)
OneToOne
Dr.3337 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9313 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011742 33
  • 42.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta eco 34
  • 10 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CTF7 33
  • 49.48 (n)
rice
(Oryza sativa)
Liliopsida Os04g0498900 33
  • 51.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8648 34
  • 40 (a)
OneToMany
Species where no ortholog for ESCO2 was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs1028344977 uncertain-significance, Roberts-SC phocomelia syndrome 27,774,591(+) C/T 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs111395487 benign, uncertain-significance, Roberts-SC phocomelia syndrome 27,803,905(+) TTTTTTTTTTTTTTT/TTTTTTTTTTTTTT/TTTTTTTTTTTTTTTT 3_prime_UTR_variant, intron_variant
rs111510470 likely-benign, Roberts-SC phocomelia syndrome 27,774,556(+) T/G 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs112031297 benign, likely-benign, not specified, Roberts-SC phocomelia syndrome 27,776,818(+) G/A/C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs114956994 likely-benign, Roberts-SC phocomelia syndrome 27,799,565(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv7153n100 CNV loss 25217958
esv3365 CNV loss 18987735
nsv1017032 CNV loss 25217958
nsv397930 CNV deletion 16902084
nsv519636 CNV gain 19592680
nsv524133 CNV loss 19592680

Variation tolerance for ESCO2 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESCO2 Gene

Human Gene Mutation Database (HGMD)
ESCO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESCO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESCO2 Gene

Disorders for ESCO2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ESCO2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
roberts syndrome
  • rbs
sc phocomelia syndrome
  • sc pseudothalidomide syndrome
phocomelia
intraocular retinoblastoma
  • pediatric intraocular retinoblastoma
leukocoria
  • leucocoria
- elite association - COSMIC cancer census association via MalaCards
Search ESCO2 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for ESCO2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ESCO2: view

No data available for Genatlas for ESCO2 Gene

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 (Nature genetics 2005) 2 3 4 22 58
  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 EW (Journal of medical genetics 2010) 3 22 44 58
  3. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret ME … Jallepalli PV (Nature 2009) 3 4 22 58
  4. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (PMID: 16380922) Schüle B … Francke U (American journal of human genetics 2005) 2 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ESCO2 Gene

Sources for ESCO2 Gene

Content
Loading form....