About   Help   FAQ
Arx Gene Detail
Summary
  • Symbol
    Arx
  • Name
    aristaless related homeobox
  • Synonyms
    Arx1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1097716
    NCBI Gene: 11878
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:92330113-92341963 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 41.05 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    211 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1097716
 protein coding gene ChrX:92330051-92341963 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035902
 protein coding gene ChrX:89645820-89657672 (+)
A/J MGP_AJ_G0035888
 protein coding gene ChrX:89749093-89761056 (+)
AKR/J MGP_AKRJ_G0035805
 protein coding gene ChrX:92117516-92130472 (+)
BALB/cJ MGP_BALBcJ_G0035872
 protein coding gene ChrX:88455057-88466931 (+)
C3H/HeJ MGP_C3HHeJ_G0035581
 protein coding gene ChrX:90017346-90029220 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036401
 protein coding gene ChrX:92395524-92407384 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033228
 protein coding gene ChrX:87850186-87862090 (+)
CAST/EiJ MGP_CASTEiJ_G0034866
 protein coding gene ChrX:74678996-74690845 (+)
CBA/J MGP_CBAJ_G0035555
 protein coding gene ChrX:95073121-95084984 (+)
DBA/2J MGP_DBA2J_G0035711
 protein coding gene ChrX:88997140-89011607 (+)
FVB/NJ MGP_FVBNJ_G0035650
 protein coding gene ChrX:88394472-88406329 (+)
LP/J MGP_LPJ_G0035799
 protein coding gene ChrX:90425012-90436868 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035684
 protein coding gene ChrX:99325395-99338313 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036428
 protein coding gene ChrX:89365906-89377772 (+)
PWK/PhJ MGP_PWKPhJ_G0034565
 protein coding gene ChrX:72490464-72502508 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034395
 protein coding gene ChrX:75535742-75547644 (+)
WSB/EiJ MGP_WSBEiJ_G0035007
 protein coding gene ChrX:88161745-88173606 (+)



Homology
more
  • Human Ortholog
    ARX, aristaless related homeobox
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ARX, aristaless related homeobox
  • Synonyms
    CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
  • Links
    NCBI Gene ID: 170302
    neXtProt AC: NX_Q96QS3
    UniProt: Q96QS3

  • Chr Location
    Xp21.3; chrX:25003694-25016420 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Arx mouse models; 6 with human ARX associations

Human Disease Mouse Models
      
IDs
 View 7 models
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    95 phenotypes from 9 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    57 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.
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
less
  • All GO Annotations
    35
  • GO References
    10
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
    1499
  • Tissues
    318
  • cDNA Data
    33
  • Literature Summary
    149
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11878 NCBI Gene Model | MGI Sequence Detail 11851 C57BL/6J ±  kb
    transcript NM_007492 RefSeq | MGI Sequence Detail 2898 ZRU/MplStud  
    polypeptide O35085 UniProt | EBI | MGI Sequence Detail 564 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      Genomic 1
      cDNA 34
      Primer pair 11
      Other 7

      Microarray probesets 4
    References
    more
    • Summaries
      All 216
      Developmental Gene Expression 149
      Diseases 6
      Gene Ontology 10
      Phenotypes 57
    • 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:348298 Tixi W, et al., Coordination between ECM and cell-cell adhesion regulates the development of islet aggregation, architecture, and functional maturation. Elife. 2023 Aug 23;12
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory