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Atrx Gene Detail
Summary
  • Symbol
    Atrx
  • Name
    ATRX, chromatin remodeler
  • Synonyms
    4833408C14Rik, alpha thalassemia/mental retardation syndrome X-linked, DXHXS6677E, Hp1bp2, HP1-BP38, Rad54, XH2, Xnp
  • Feature Type
    protein coding gene
  • IDs
    MGI:103067
    NCBI Gene: 22589
  • Alliance
    genome feature page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:104841221-104972978 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 47.26 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2457 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103067
 protein coding gene ChrX:104841221-104973009 (-)
129S1/SvImJ ENSMUSG00200037296
 protein coding gene ChrX:86624598-86756386 (-)
A/J ENSMUSG00195037413
 protein coding gene ChrX:90354959-90486763 (-)
AKR/J ENSMUSG00220034802
 protein coding gene ChrX:85059908-85191721 (-)
BALB/cJ ENSMUSG00180039610
 protein coding gene ChrX:87021089-87152912 (-)
C3H/HeJ ENSMUSG00175040254
 protein coding gene ChrX:90596959-90728753 (-)
C57BL/6NJ ENSMUSG00215045655
 protein coding gene ChrX:87222224-87382066 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033323
 protein coding gene ChrX:99817436-99950801 (-)
CAST/EiJ ENSTCUG00005038835
 protein coding gene ChrX:88045576-88177536 (-)
CBA/J ENSMUSG00210042693
 protein coding gene ChrX:87490576-87622390 (-)
DBA/2J ENSMUSG00185042893
 protein coding gene ChrX:99944927-100076727 (-)
FVB/NJ ENSMUSG00205029093
 protein coding gene ChrX:86566900-86698724 (-)
JF1/MsJ ENSUMUG00000030777
 protein coding gene ChrX:120549972-120682674 (-)
LP/J ENSMUSG00230040208
 protein coding gene ChrX:106622026-106753820 (-)
NOD/ShiLtJ ENSMUSG00190032731
 protein coding gene ChrX:86681340-86813149 (-)
NZO/HlLtJ ENSMUSG00225039952
 protein coding gene ChrX:111749511-111881242 (-)
PWK/PhJ ENSLUMG00010034348
 protein coding gene ChrX:85808051-85940923 (-)
SPRET/EiJ ENSMSPG00010036817
 protein coding gene ChrX:90058851-90191152 (-)
WSB/EiJ ENSIUOG00005039859
 protein coding gene ChrX:87186596-87318346 (-)



Homology
more
  • Human Ortholog
    ATRX, ATRX chromatin remodeler
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATRX, ATRX chromatin remodeler
  • Synonyms
    JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX
  • Links
    NCBI Gene ID: 546
    UniProt: P46100

  • Chr Location
    Xq21.1; chrX:77504880-77786233 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atrx mouse models; 5 with human ATRX associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
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
    35 phenotypes from 5 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    10 images
    64 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.
Mice homozygous for a floxed allele activated in different tissues at different time points can serve as a model of alpha-thalassemia/mental retardation syndrome, nondeletion type, X-linked.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    87
  • GO References
    25
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
    976
  • Tissues
    259
  • cDNA Data
    35
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22589 NCBI Gene Model | MGI Sequence Detail 131758 C57BL/6J ±  kb
    transcript NM_009530 RefSeq | MGI Sequence Detail 10244 Not Specified  
    polypeptide Q61687 UniProt | EBI | MGI Sequence Detail 2476 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 3
      cDNA 37
      Primer pair 5
      Other 1
      Antibodies 5

      Microarray probesets 12
    Other
    Accession IDs
    less
    MGD-MRK-16212, MGD-MRK-18764, MGD-MRK-23929, MGD-MRK-38415, MGI:109370, MGI:1914653, MGI:2147885
    References
    more
    • Summaries
      All 164
      Developmental Gene Expression 34
      Diseases 2
      Gene Ontology 25
      Phenotypes 64
    • Earliest
      J:16603 Gecz J, et al., Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet. 1994 Jan;3(1):39-44
    • Latest
      J:386565 Quesnel K, et al., Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder. Autism Res. 2026 Apr;19(4):e70205
    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)
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    Funding Information
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    09/08/2026
    MGI 6.24     		The Jackson Laboratory