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Esco2 Gene Detail
Summary
  • Symbol
    Esco2
  • Name
    establishment of sister chromatid cohesion N-acetyltransferase 2
  • Synonyms
    2410004I17Rik, D030072L07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919238
    NCBI Gene: 71988
  • Gene Overview
    MyGene.info: ESCO2
Location & Maps
more
  • Sequence Map
    Chr14:65819038-65833994 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14957 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 34.36 cM, cytoband D1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ESCO2, establishment of sister chromatid cohesion N-acetyltransferase 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ESCO2, establishment of sister chromatid cohesion N-acetyltransferase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    2410004I17Rik, EFO2, RBS
  • Links
    NCBI Gene ID: 157570
    neXtProt AC: NX_Q56NI9

  • Chr Location
    8p21.1; chr8:27771477-27812396 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ESCO2 associations

Human Disease Mouse Models
       Roberts Syndrome; RBS   OMIM: 268300
SC Phocomelia Syndrome   OMIM: 269000
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    24
  • Chemically induced (other)
    1
  • Gene trapped
    18
  • Targeted
    5
  • Genomic Mutations
    1 involving Esco2
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation associated with impaired chromosome cohesion and abnormal mitosis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024476 VEGA Gene Model | MGI Sequence Detail 14957 C57BL/6J ±  kb
transcript OTTMUST00000060038 VEGA | MGI Sequence Detail 2913 Not Applicable  
polypeptide OTTMUSP00000029266 VEGA | MGI Sequence Detail 592 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    96 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000007197 N-acetyltransferase ESCO2
  • EC
  • InterPro Domains
    IPR028009 N-acetyltransferase ESCO, acetyl-transferase domain
    IPR028005 N-acetyltransferase ESCO, zinc-finger
Molecular
Reagents
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  • All nucleic 64
    cDNA 62
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGI:2442869
References
more
  • Summaries
    All 40
    Developmental Gene Expression 6
    Gene Ontology 7
    Phenotypes 12
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:233777 Ray JP, et al., The Interleukin-2-mTORc1 Kinase Axis Defines the Signaling, Differentiation, and Metabolism of T Helper 1 and Follicular B Helper T Cells. Immunity. 2015 Oct 20;43(4):690-702

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory