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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. 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

Regulatory Elements for ESCO2 Gene

Enhancers for ESCO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H027835 1.4 FANTOM5 ENCODE 14.9 +65.9 65906 3 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 SP3 CCDC25 ESCO2 PBK RNU6-1276P
GH08H027372 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -393.6 -393636 9 HDGF PKNOX1 TBL1XR1 RB1 SIN3A BATF ZNF143 ZNF207 ETV6 RUNX3 PTK2B ESCO2 CCDC25 RNU6-1276P MIR6842
GH08H027771 1.4 FANTOM5 ENCODE 11.6 +2.1 2073 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CCDC25 ESCO2 CLU ELP3 SCARA3 GC08P027774
GH08H027386 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -382.3 -382348 5 ZNF687 JUN EBF1 RELA POLR2A IKZF1 SCRT2 RUNX3 MAFK IKZF2 CCDC25 EPHX2 PTK2B CHRNA2 ESCO2 RNU6-1276P MIR6842
GH08H027727 1.4 Ensembl ENCODE dbSUPER 10.7 -44.1 -44077 0 RB1 ARID4B RAD21 RFX5 ZNF143 CREM MIXL1 THAP11 ZNF654 ZNF280D CCDC25 CLU ESCO2 RNU6-1276P ENSG00000253875 MIR3622B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESCO2 on UCSC Golden Path with GeneCards custom track

Promoters for ESCO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000330460 923 1201 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 ZHX2

Genomic Location for ESCO2 Gene

Chromosome:
8
Start:
27,771,477 bp from pter
End:
27,812,640 bp from pter
Size:
41,164 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ESCO2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ESCO2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 33 34
  • 85.01 (n)
dog
(Canis familiaris)
Mammalia ESCO2 33 34
  • 83.67 (n)
rat
(Rattus norvegicus)
Mammalia Esco2 33
  • 80.82 (n)
mouse
(Mus musculus)
Mammalia Esco2 33 16 34
  • 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 33 34
  • 59.16 (n)
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 33 34
  • 50.69 (n)
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 Sequence Context AA Info Type
rs80359868 Pathogenic, Roberts syndrome (RBS) [MIM:268300] 27,799,658(+) GAATC(G/T)GGGTT nc-transcript-variant, reference, missense
rs797045565 Pathogenic 27,780,206(+) AAGGA(A/TTTTAT)CATAA nc-transcript-variant, reference, frameshift-variant
rs797045566 Pathogenic 27,780,223(+) AAAAA(-/A)TGAGG nc-transcript-variant, reference, frameshift-variant
rs80359844 Pathogenic 27,776,560(+) ACTGT(-/AT)CTTTT nc-transcript-variant, reference, frameshift-variant
rs80359845 Pathogenic 27,776,602(+) CTGGA(-/GAGA)AAGCT nc-transcript-variant, reference, frameshift-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)

Relevant External Links 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, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
roberts syndrome
  • sc phocomelia syndrome
sc phocomelia syndrome
  • hypomelia hypotrichosis facial hemangioma 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.

Relevant External Links for ESCO2

Genetic Association Database (GAD)
ESCO2
Human Genome Epidemiology (HuGE) Navigator
ESCO2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESCO2
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 60
  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 45 60
  3. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret ME … Jallepalli PV (Nature 2009) 3 4 22 60
  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 60
  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 45 60

Products for ESCO2 Gene

Sources for ESCO2 Gene

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