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Ep300 Gene Detail
Summary
  • Symbol
    Ep300
  • Name
    E1A binding protein p300
  • Synonyms
    KAT3B, p300
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276116
    NCBI Gene: 328572
Location & Maps
more
  • Sequence Map
    Chr15:81585351-81652072 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      66722 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    EP300, E1A binding protein p300
  • Vertebrate Orthologs
    11
  • Human Ortholog
    EP300, E1A binding protein p300
    Orthology source: HGNC, HomoloGene
  • Synonyms
    KAT3B, p300, RSTS2
  • Links
    NCBI Gene ID: 2033
    neXtProt AC: NX_Q09472

  • Chr Location
    22q13.2; chr22:41092610-41180077 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1094
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 western clawed frog;3 zebrafish
  • HCOP
    human homology predictions: EP300
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ep300 mouse models; 3 with human EP300 associations

Human Disease Mouse Models
       Systemic Lupus Erythematosus; SLE   OMIM: 152700 View 1 model
       Colorectal Cancer; CRC   OMIM: 114500
Rubinstein-Taybi Syndrome 1; RSTS1   OMIM: 180849
Rubinstein-Taybi Syndrome 2; RSTS2   OMIM: 613684
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    92 phenotypes from 8 alleles in 11 genetic backgrounds
    29 phenotypes from multigenic genotypes
    63 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
    47
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    31
  • Radiation induced
    2
  • Targeted
    10
  • Transgenic
    2
  • Genomic Mutations
    3 involving Ep300
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.
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 OTTMUSG00000048223 VEGA Gene Model | MGI Sequence Detail 66722 C57BL/6J ±  kb
transcript OTTMUST00000123794 VEGA | MGI Sequence Detail 8738 Not Applicable  
polypeptide OTTMUSP00000067505 VEGA | MGI Sequence Detail 2412 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    199 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 35
    Genomic 1
    cDNA 31
    Primer pair 2
    Other 1

    Microarray probesets 1
References
more
  • Summaries
    All 156
    Developmental Gene Expression 24
    Diseases 2
    Gene Ontology 50
    Phenotypes 63
  • Earliest
    J:65047 Missero C, et al., Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation. J Cell Biol. 1993 Jun;121(5):1109-20
  • Latest
    J:227300 Lin EE, et al., Aldo-keto reductase 1b7, a novel marker for renin cells, is regulated by cyclic AMP signaling. Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R576-84

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
02/02/2016
MGI 6.02
The Jackson Laboratory