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Asxl3 Gene Detail
Summary
  • Symbol
    Asxl3
  • Name
    additional sex combs like 3 (Drosophila)
  • Synonyms
    C230079D11Rik, D430002O22Rik, D930044O18Rik, LOC381127
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685175
    NCBI Gene: 211961
  • Gene Overview
    MyGene.info: ASXL3
Location & Maps
more
  • Sequence Map
    Chr18:22344883-22530015 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      185133 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 11.96 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ASXL3, additional sex combs like 3, transcriptional regulator
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ASXL3, additional sex combs like 3, transcriptional regulator
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BRPS, KIAA1713
  • Links
    NCBI Gene ID: 80816
    neXtProt AC: NX_Q9C0F0

  • Chr Location
    18q11; chr18:33578577-33751195 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ASXL3 associations

Human Disease Mouse Models
       Bainbridge-Ropers Syndrome; BRPS   OMIM: 615485
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotype references
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 OTTMUSG00000026799 VEGA Gene Model | MGI Sequence Detail 185133 C57BL/6J ±  kb
transcript OTTMUST00000066270 VEGA | MGI Sequence Detail 11485 Not Applicable  
polypeptide OTTMUSP00000033189 VEGA | MGI Sequence Detail 2204 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    991 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000030284 polycomb group protein ASXL3
  • InterPro Domains
    IPR028020 ASX homology domain
    IPR024818 ASX-like protein 3
    IPR007759 HB1/Asxl, restriction endonuclease HTH domain
    IPR024811 Polycomb protein ASX/ASX-like
    IPR026905 Protein ASX-like, PHD domain
Molecular
Reagents
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  • All nucleic 23
    cDNA 22
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGI:2444723, MGI:2685791, MGI:3026936
References
more
  • Summaries
    All 29
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 4
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:213577 McGinley AL, et al., Additional sex combs-like family genes are required for normal cardiovascular development. Genesis. 2014 Jul;52(7):671-86

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory