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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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:81470329-81536273 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 38.16 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    993 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1276116
 protein coding gene Chr15:81469552-81536278 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022115
 protein coding gene Chr15:82030225-82102894 (+)
A/J MGP_AJ_G0022076
 protein coding gene Chr15:79137443-79205068 (+)
AKR/J MGP_AKRJ_G0022051
 protein coding gene Chr15:81334021-81401629 (+)
BALB/cJ MGP_BALBcJ_G0022082
 protein coding gene Chr15:79174457-79248405 (+)
C3H/HeJ MGP_C3HHeJ_G0021853
 protein coding gene Chr15:81347223-81417176 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022525
 protein coding gene Chr15:85249816-85319998 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020054
 protein coding gene Chr15:75600726-75671287 (+)
CAST/EiJ MGP_CASTEiJ_G0021373
 protein coding gene Chr15:82111142-82182355 (+)
CBA/J MGP_CBAJ_G0021817
 protein coding gene Chr15:87901469-87970800 (+)
DBA/2J MGP_DBA2J_G0021947
 protein coding gene Chr15:78618546-78685801 (+)
FVB/NJ MGP_FVBNJ_G0021924
 protein coding gene Chr15:77657110-77725889 (+)
LP/J MGP_LPJ_G0022015
 protein coding gene Chr15:82181243-82251813 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021945
 protein coding gene Chr15:92860347-92930763 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022539
 protein coding gene Chr15:81418085-81488809 (+)
PWK/PhJ MGP_PWKPhJ_G0021115
 protein coding gene Chr15:78653226-78722418 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020952
 protein coding gene Chr15:81204542-81282850 (+)
WSB/EiJ MGP_WSBEiJ_G0021425
 protein coding gene Chr15:81838156-81907575 (+)



Homology
more
  • Human Ortholog
    EP300, E1A binding protein p300
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EP300, E1A binding protein p300
  • Synonyms
    KAT3B, MKHK2, p300, RSTS2
  • Links
    NCBI Gene ID: 2033
    neXtProt AC: NX_Q09472
    UniProt: Q09472

  • Chr Location
    22q13.2; chr22:41092510-41180077 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ep300 mouse models; 3 with human EP300 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
less
  • Phenotype Summary
    92 phenotypes from 7 alleles in 10 genetic backgrounds
    22 phenotypes from multigenic genotypes
    94 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.
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
less
  • All GO Annotations
    274
  • GO References
    63
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    919
  • Tissues
    148
  • cDNA Data
    31
  • Literature Summary
    38
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 328572 NCBI Gene Model | MGI Sequence Detail 65945 C57BL/6J ±  kb
    transcript NM_177821 RefSeq | MGI Sequence Detail 8746 C57BL/6  
    polypeptide B2RWS6 UniProt | EBI | MGI Sequence Detail 2412 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 1
      cDNA 33
      Primer pair 9
      Other 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 289
      Developmental Gene Expression 38
      Diseases 2
      Gene Ontology 63
      Phenotypes 94
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:352626 Gao D, et al., P300 regulates histone crotonylation and preimplantation embryo development. Nat Commun. 2024 Jul 30;15(1):6418
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory