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Aes Gene Detail
Summary
  • Symbol
    Aes
  • Name
    amino-terminal enhancer of split
  • Synonyms
    AES, Grg, Grg5
  • Feature Type
    protein coding gene
  • IDs
    MGI:95806
    NCBI Gene: 14797
Location & Maps
more
  • Sequence Map
    Chr10:81559494-81566362 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6869 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AES, amino-terminal enhancer of split
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AES, amino-terminal enhancer of split
    Orthology source: HomoloGene
  • Synonyms
    AES-1, AES-2, ESP1, GRG, Grg-5, GRG5, TLE5
  • Links
    NCBI Gene ID: 166
    neXtProt AC: NX_Q08117

  • Chr Location
    19p13.3; chr19:3052910-3063107 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 3 alleles in 2 genetic backgrounds
    22 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    23
  • Chemically induced (other)
    1
  • Gene trapped
    15
  • Targeted
    4
  • Transgenic
    3
  • Genomic Mutations
    1 involving Aes
  • Incidental Mutations
Mice homozygous for a knock-out allele display altered mating frequency, abnormal pituitary gland growth and development, and varying degrees of postnatal growth retardation leading to premature death among severely runted individuals.
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 ENSMUSG00000054452 Ensembl Gene Model | MGI Sequence Detail 6869 C57BL/6J ±  kb
transcript ENSMUST00000002518 Ensembl | MGI Sequence Detail 1411 Not Applicable  
polypeptide ENSMUSP00000002518 Ensembl | MGI Sequence Detail 197 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    8 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003800 amino-terminal enhancer of split
  • InterPro Domains
    IPR005617 Groucho/TLE, N-terminal Q-rich domain
Molecular
Reagents
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  • All nucleic 249
    Genomic 1
    cDNA 246
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10244, MGI:2143713
References
more
  • Summaries
    All 56
    Developmental Gene Expression 19
    Gene Ontology 8
    Phenotypes 19
  • Earliest
    J:13403 Mallo M, et al., Cloning and developmental expression of Grg, a mouse gene related to the groucho transcript of the Drosophila Enhancer of split complex. Mech Dev. 1993 Jul;42(1-2):67-76
  • Latest
    J:221979 Sonoshita M, et al., Promotion of colorectal cancer invasion and metastasis through activation of NOTCH-DAB1-ABL-RHOGEF protein TRIO. Cancer Discov. 2015 Feb;5(2):198-211

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory