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ESCO2 Gene

protein-coding   GIFtS: 58
GCID: GC08P027632

Establishment Of Sister Chromatid Cohesion N-Acetyltransferase...

(Previous names: Roberts syndrome, establishment of cohesion 1 homolog 2...)
(Previous symbol: RBS)
  See ESCO2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 21 2     2410004I17Rik2
RBS1 2     EFO22
ECO1 Homolog 22 3     N-Acetyltransferase ESCO22
Establishment Of Cohesion 1 Homolog 2 (S. Cerevisiae)1     EC 2.3.1.-3
Roberts Syndrome1     Establishment Of Cohesion 1 Homolog 23

External Ids:    HGNC: 272301   Entrez Gene: 1575702   Ensembl: ENSG000001713207   OMIM: 6093535   UniProtKB: Q56NI93   

Export aliases for ESCO2 gene to outside databases

Previous GC identifers: GC08P027688 GC08P027689 GC08P027692 GC08P027695 GC08P026176


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is ESCO1.

UniProtKB/Swiss-Prot: ESCO2_HUMAN, Q56NI9
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

Gene Wiki entry for ESCO2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ESCO2 gene promoter:
         TBP   NF-YA   HNF-1A   CBF-A   CBF-B   HNF-1   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidESCO2 promoter sequence
   Search Chromatin IP Primers for ESCO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ESCO2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.1   Ensembl cytogenetic band:  8p21.1   HGNC cytogenetic band: 8p21.1

ESCO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESCO2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P027632:  view genomic region     (about GC identifiers)

Start:
27,629,466 bp from pter      End:
27,670,157 bp from pter
Size:
40,692 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ESCO2_HUMAN, Q56NI9 (See protein sequence)
Recommended Name: N-acetyltransferase ESCO2  
Size: 601 amino acids; 68307 Da
Secondary accessions: B3KW59

Explore the universe of human proteins at neXtProt for ESCO2: NX_Q56NI9

Explore proteomics data for ESCO2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ESCO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001017420.1  
    ENSEMBL proteins: 
     ENSP00000428435   ENSP00000306999   ENSP00000428928   ENSP00000428027   ENSP00000428959  
     ENSP00000380563  
    Reactome Protein details: Q56NI9

    ESCO2 Human Recombinant Protein Products:

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    Novus Biologicals ESCO2 Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ESCO2

     
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    antibodies-online proteins for ESCO2 (3 products) 

     
    antibodies-online peptides for ESCO2

    ESCO2 Antibody Products:

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    antibodies-online antibodies for ESCO2 (9 products) 

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    Cloud-Clone Corp. ELISAs for ESCO2
    Cloud-Clone Corp. CLIAs for ESCO2
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    antibodies-online kits for ESCO2 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028005 AcTrfase_ESCO_Znf_dom
     IPR028009 ESCO_Acetyltransf_dom

    Graphical View of Domain Structure for InterPro Entry Q56NI9

    ProtoNet protein and cluster: Q56NI9

    UniProtKB/Swiss-Prot: ESCO2_HUMAN, Q56NI9
    Similarity: Belongs to the acetyltransferase family. ECO subfamily


    Find genes that share domains with ESCO2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESCO2_HUMAN, Q56NI9
    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 Number (IUBMB): EC 2.3.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016746transferase activity, transferring acyl groups IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ESCO2           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Esco2):
     cellular  craniofacial  embryogenesis  mortality/aging  nervous system 

    Find genes that share phenotypes with ESCO2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Esco2tm1.2Ge for ESCO2

       genOway: Develop your customized and physiologically relevant rodent model for ESCO2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ESCO2:
    hsa-mir-192-5p (MIRT026818), hsa-mir-128-3p (MIRT022088)

    Block miRNA regulation of human, mouse, rat ESCO2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESCO2 (see all 18):
    hsa-miR-301a hsa-miR-340 hsa-miR-298 hsa-miR-3662 hsa-miR-130b hsa-miR-3163 hsa-miR-301b hsa-miR-569
    SwitchGear 3'UTR luciferase reporter plasmidESCO2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ESCO2
    Predesigned siRNA for gene silencing in human, mouse, rat ESCO2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ESCO2 (NM_001017420)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESCO2

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10050) for ESCO2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ESCO2_HUMAN, Q56NI9: Nucleus. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA19907496
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with ESCO2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ESCO2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    2CDK-mediated phosphorylation and removal of Cdc6
    S Phase0.78
    Establishment of Sister Chromatid Cohesion0.00


    Find genes that share SuperPaths with ESCO2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ESCO2
        Establishment of Sister Chromatid Cohesion


        Pathway & Disease-focused RT2 Profiler PCR Array including ESCO2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ESCO2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ESCO2 (Q56NI93 ENSP000003069994) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227333Q96KQ73, ENSP000003973234I2D: score=1 STRING: ENSP00000397323
    EHMT2Q96KQ73I2D: score=1 
    ENSG00000206376Q96KQ73I2D: score=1 
    ENSG00000232045Q96KQ73I2D: score=1 
    ENSG00000236759Q96KQ73I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006275regulation of DNA replication IMP19907496
    GO:0034421post-translational protein acetylation IMP--

    Find genes that share ontologies with ESCO2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ESCO2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ESCO2 gene: 
    NM_001017420.2  

    Unigene Cluster for ESCO2:

    Establishment of cohesion 1 homolog 2 (S. cerevisiae)
    Hs.99480  [show with all ESTs]
    Unigene Representative Sequence: AL832666
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523566 ENST00000305188(uc003xgg.3) ENST00000522378 ENST00000519637
    ENST00000524293(uc003xgh.3) ENST00000523910 ENST00000518262 ENST00000397418(uc010luy.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat ESCO2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESCO2 (see all 18):
    hsa-miR-301a hsa-miR-340 hsa-miR-298 hsa-miR-3662 hsa-miR-130b hsa-miR-3163 hsa-miR-301b hsa-miR-569
    SwitchGear 3'UTR luciferase reporter plasmidESCO2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ESCO2
    Predesigned siRNA for gene silencing in human, mouse, rat ESCO2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ESCO2 (NM_001017420)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESCO2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESCO2
      QuantiTect SYBR Green Assays in human, mouse, rat ESCO2
      QuantiFast Probe-based Assays in human, mouse, rat ESCO2
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10050) for ESCO2 

    Additional mRNA sequence: 

    AF306675.1 AF306676.1 AF306677.1 AF306678.1 AF306679.1 AF306680.1 AK124215.1 AL832666.1 
    AY882862.1 BC017933.1 BC034641.1 BC040615.1 

    6 DOTS entries:

    DT.452657  DT.121483650  DT.308720  DT.99948039  DT.121483652  DT.95151126 

    Selected AceView cDNA sequences (see all 84):

    AF306676 AK124215 AA120845 BQ937508 AF306679 AA743028 AA814770 AA668889 
    BQ013624 CA418342 AA780880 BX112448 AA992658 AA485622 AI734166 BM090966 
    C02569 BM474388 BC017933 BI861845 AA278789 BG165752 BF665185 BX497436 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ESCO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCACCGGG
    ESCO2 Expression
    About this image


    ESCO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Choroid Plexus Progenitor Cells Choroid Plexus
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    ESCO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESCO2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99480

    UniProtKB/Swiss-Prot: ESCO2_HUMAN, Q56NI9
    Tissue specificity: Widely expressed in fetal tissues. In adult, it is expressed in thymus, placenta and small
    intestine

        Pathway & Disease-focused RT2 Profiler PCR Array including ESCO2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESCO2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ESCO2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esco21 , 5 establishment of cohesion 1 homolog 2 (S. cerevisiae)1, 5 80.79(n)1
    72.74(a)1
      14 (34.36 cM)5
    719881  NM_028039.21  NP_082315.31 
     658190385 
    chicken
    (Gallus gallus)
    Aves ESCO21 establishment of cohesion 1 homolog 2 (S. cerevisiae) 59.16(n)
    53.83(a)
      422004  XM_420012.3  XP_420012.3 
    lizard
    (Anolis carolinensis)
    Reptilia ESCO26
    establishment of sister chromatid cohesion N-acety...
    41(a)
    1 ↔ 1
    GL343551.1(258513-276749)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.4432 Transcribed sequences 71.27(n)    141994839 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.33372 Transcribed sequence with weak similarity to protein more 72.66(n)    CK028850.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eco6
    eco
    10(a)
    1 → many
    3L(7328542-7332440)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CTF71 CTF7 49.48(n)
    37.33(a)
      829267  NM_119289.2  NP_194868.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g04989001 Os04g0498900 51.72(n)
    45.52(a)
      4336297  NM_001059751.2  NP_001053216.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ESCO2 gene
    ESCO12  
    1 SIMAP similar gene for ESCO2 using alignment to 6 protein entries:     ESCO2_HUMAN (see all proteins):
    ESCO1

    Find genes that share paralogs with ESCO2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ESCO2 (see all 811)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0226494
    Roberts syndrome (RBS)4--see VAR_0226492 W G mis40--------
    rs47327481,2,,4
    C,F,A,Hnon-pathogenic127871798(+) ATCTGC/TGCTCT 2 A V mis1108Minor allele frequency- T:0.15NS EA PA EU CA WA NA CSA 12686
    rs803598491,2
    Cpathogenic127872064(+) AAAATC/TGAGTG 2 R * stg10--------
    rs803598501,2
    Cpathogenic127872163(+) AACCAC/TAAGTT 2 Q * stg10--------
    rs803598591,2
    Cpathogenic127883234(+) AAAAA-/A/GCAAAA 3 T NK SK fra10--------
    rs803598611,2
    Cpathogenic127883255(+) TCATCA/GTGAGT 1 -- spd10--------
    rs803598621,2
    Cpathogenic127884092(+) CCCCAA/GTTATA 1 -- int11Minor allele frequency- G:0.00EU 1321
    rs803598641,2
    Cpathogenic127887220(+) GGTTGA/GAAGAA 2 * W stg10--------
    rs803598681,2
    Cpathogenic127894912(+) GAATCG/TGGGTT 2 G W mis10--------
    rs341986911,2
    C--26176585(+) TATTT-/ATTT/AT
    TTATTTATTT
    TTGAG
    2 -- us2k1 cds11NA 2

    HapMap Linkage Disequilibrium report for ESCO2 (27629466 - 27670157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ESCO2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3365CNV Deletion18987735
    nsv890700CNV Loss21882294
    nsv397930CNV Loss16902084
    nsv524133CNV Loss19592680
    nsv890699CNV Gain21882294
    nsv519636CNV Gain19592680

    Human Gene Mutation Database (HGMD): ESCO2
    Locus Specific Mutation Databases (LSDB): ESCO2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609353   
    OMIM disorders: 268300  269000  
    UniProtKB/Swiss-Prot: ESCO2_HUMAN, Q56NI9
  • 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). 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 4 diseases for ESCO2:    
    About MalaCards
    sc phocomelia syndrome    roberts syndrome    phocomelia    lymphedema-distichiasis syndrome

    4 diseases from the University of Copenhagen DISEASES database for ESCO2:
    Roberts syndrome     Cholera     SC phocomelia syndrome     Cornelia de Lange syndrome

    Find genes that share disorders with ESCO2           About GenesLikeMe

    GeneTests: ESCO2
    GeneReviews: ESCO2
    Genetic Association Database (GAD): ESCO2
    Human Genome Epidemiology (HuGE) Navigator: ESCO2 (3 documents)

    Export disorders for ESCO2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ESCO2 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with ESCO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 15821733)1, 2, 3, 9 Vega H....Joenje H. (Nat. Genet. 2005)
    2. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (PubMed id 16380922)1, 2, 3 Schuele B.... Francke U. (Am. J. Hum. Genet. 2005)
    3. 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. (PubMed id 19574259)1, 4, 9 Vega H....Jabs E.W. (J. Med. Genet. 2010)
    4. Cohesin acetylation speeds the replication fork. (PubMed id 19907496)1, 2, 9 Terret M.E.... Jallepalli P.V. (Nature 2009)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (Cancer Res. 2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. (PubMed id 16775838)1, 3 Resta N....Guanti G. (J. Cell. Physiol. 2006)
    9. Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion. (PubMed id 15958495)1, 3 Hou F. and Zou H. (Mol. Biol. Cell 2005)
    10. Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. (PubMed id 18186147)1, 9 Schulz S....Wieacker P. (Prenat. Diagn. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 157570 HGNC: 27230 AceView: LOC157570 Ensembl:ENSG00000171320 euGenes: HUgn157570
    ECgene: ESCO2 H-InvDB: ESCO2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ESCO2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ESCO2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ESCO2 gene:
    Search GeneIP for patents involving ESCO2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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