ID:ESCO2_HUMAN DESCRIPTION: RecName: Full=N-acetyltransferase ESCO2; EC=2.3.1.-; AltName: Full=Establishment of cohesion 1 homolog 2; Short=ECO1 homolog 2; 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. SUBCELLULAR LOCATION: Nucleus. Chromosome. TISSUE SPECIFICITY: Widely expressed in fetal tissues. In adult, it is expressed in thymus, placenta and small intestine. DISEASE: Defects in ESCO2 are the cause of Roberts syndrome (RBS) [MIM:268300]. RBS is a 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). DISEASE: Defects in ESCO2 are the cause of SC phocomelia syndrome (SCPS) [MIM:269000]; also known as SC pseudothalidomide syndrome. SCPS 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. SIMILARITY: Belongs to the acetyltransferase family. GCN5 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ESCO2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q56NI9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AY882862 - Homo sapiens establishment of cohesion 1 homolog 2 (ESCO2) mRNA, complete cds. AK124215 - Homo sapiens cDNA FLJ42221 fis, clone THYMU2039350, highly similar to N-acetyltransferase ESCO2 (EC 2.3.1.-). AF306679 - Homo sapiens clone K(1)157-2A mRNA sequence. AL832666 - Homo sapiens mRNA; cDNA DKFZp313K1012 (from clone DKFZp313K1012). BC034641 - Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae), mRNA (cDNA clone IMAGE:4838966), complete cds. AB527138 - Synthetic construct DNA, clone: pF1KE0357, Homo sapiens ESCO2 gene for establishment of cohesion 1 homolog 2, without stop codon, in Flexi system. BC141418 - Synthetic construct Homo sapiens clone IMAGE:100014712, MGC:175346 establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2) mRNA, encodes complete protein. BC146562 - Synthetic construct Homo sapiens clone IMAGE:100014821, MGC:180137 establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2) mRNA, encodes complete protein. BC040615 - Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae), mRNA (cDNA clone IMAGE:5576264), with apparent retained intron. AF306677 - Homo sapiens clone K2r-1f(50) mRNA sequence. AF306678 - Homo sapiens clone K2r-1f(59) mRNA sequence. AF306675 - Homo sapiens clone 305-4G mRNA sequence. JD173480 - Sequence 154504 from Patent EP1572962. BC017933 - Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae), mRNA (cDNA clone IMAGE:4697769). JD339615 - Sequence 320639 from Patent EP1572962. AF306676 - Homo sapiens clone K1-1a mRNA sequence. JD097203 - Sequence 78227 from Patent EP1572962. JD501082 - Sequence 482106 from Patent EP1572962. JD207787 - Sequence 188811 from Patent EP1572962. JD179250 - Sequence 160274 from Patent EP1572962. JD293485 - Sequence 274509 from Patent EP1572962. JD139373 - Sequence 120397 from Patent EP1572962. JD037179 - Sequence 18203 from Patent EP1572962. JD307495 - Sequence 288519 from Patent EP1572962. JD425257 - Sequence 406281 from Patent EP1572962. JD239022 - Sequence 220046 from Patent EP1572962. JD375127 - Sequence 356151 from Patent EP1572962. JD314993 - Sequence 296017 from Patent EP1572962. JD053048 - Sequence 34072 from Patent EP1572962. JD088932 - Sequence 69956 from Patent EP1572962. JD522435 - Sequence 503459 from Patent EP1572962. JD376322 - Sequence 357346 from Patent EP1572962. JD159614 - Sequence 140638 from Patent EP1572962. JD560870 - Sequence 541894 from Patent EP1572962. JD542358 - Sequence 523382 from Patent EP1572962. JD138436 - Sequence 119460 from Patent EP1572962. JD138437 - Sequence 119461 from Patent EP1572962. JD066683 - Sequence 47707 from Patent EP1572962. JD183977 - Sequence 165001 from Patent EP1572962. JD092340 - Sequence 73364 from Patent EP1572962. JD558977 - Sequence 540001 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q56NI9 (Reactome details) participates in the following event(s):
R-HSA-2468039 Acetylation of SMC3 subunit of chromosomal arm associated cohesin by ESCO1 or ESCO2 R-HSA-2473152 Acetylation of SMC3 subunit of centromeric chromatin associated cohesin by ESCO1 or ESCO2 R-HSA-2468052 Establishment of Sister Chromatid Cohesion R-HSA-69242 S Phase R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
