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Arx Gene Detail
Summary
  • Symbol
    Arx
  • Name
    aristaless related homeobox
  • Feature Type
    protein coding gene
  • IDs
    MGI:1097716
    NCBI Gene: 11878
  • Gene Overview
    MyGene.info: ARX
Location & Maps
more
  • Sequence Map
    ChrX:93286445-93298357 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11913 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 41.05 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ARX, aristaless related homeobox
  • Vertebrate Orthologs
    5
  • Human Ortholog
    ARX, aristaless related homeobox
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
  • Links
    NCBI Gene ID: 170302
    neXtProt AC: NX_Q96QS3

  • Chr Location
    Xp21.3; chrX:25003694-25015948 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Arx mouse models; 5 with human ARX associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 1; EIEE1   OMIM: 308350 View 4 models
Lissencephaly, X-Linked, 2; LISX2   OMIM: 300215 View 2 models
       Corpus Callosum, Agenesis of, with Abnormal Genitalia   OMIM: 300004
Mental Retardation, X-Linked, with or without Seizures, Arx-Related;   OMIM: 300419
Partington X-Linked Mental Retardation Syndrome; PRTS   OMIM: 309510
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    77 phenotypes from 8 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    35 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
    8
  • Targeted
    8
Males hemizygous for targeted null mutations die perinatally. Male mice hemizygous for various alleles with point mutations or triple repeat expansion exhibit defective GABAergic neuron migration and numbers, seizures, and/or behavioral defects.
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017972 VEGA Gene Model | MGI Sequence Detail 11913 C57BL/6J ±  kb
transcript OTTMUST00000043409 VEGA | MGI Sequence Detail 2881 Not Applicable  
polypeptide OTTMUSP00000019500 VEGA | MGI Sequence Detail 564 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 39
    Genomic 1
    cDNA 31
    Primer pair 6
    Other 1

    Microarray probesets 4
References
more
  • Summaries
    All 137
    Developmental Gene Expression 90
    Diseases 5
    Gene Ontology 9
    Phenotypes 35
  • Earliest
    J:42033 Miura H, et al., Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev. 1997 Jul;65(1-2):99-109
  • Latest
    J:233841 Inoue M, et al., Isolation and Characterization of Fetal Leydig Progenitor Cells of Male Mice. Endocrinology. 2016 Mar;157(3):1222-33

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
09/27/2016
MGI 6.05
The Jackson Laboratory