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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0035999
 protein coding gene ChrX:102565525-102709225 (-)
A/J MGP_AJ_G0035978
 protein coding gene ChrX:102346362-102479213 (-)
AKR/J MGP_AKRJ_G0035897
 protein coding gene ChrX:105625023-105761246 (-)
BALB/cJ MGP_BALBcJ_G0035968
 protein coding gene ChrX:101178728-101321740 (-)
C3H/HeJ MGP_C3HHeJ_G0035675
 protein coding gene ChrX:103007049-103144837 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036495
 protein coding gene ChrX:105487510-105640276 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033323
 protein coding gene ChrX:99817436-99950801 (-)
CAST/EiJ MGP_CASTEiJ_G0034962
 protein coding gene ChrX:87139289-87289293 (-)
CBA/J MGP_CBAJ_G0035650
 protein coding gene ChrX:108807978-108947790 (-)
DBA/2J MGP_DBA2J_G0035804
 protein coding gene ChrX:101640905-101772844 (-)
FVB/NJ MGP_FVBNJ_G0035745
 protein coding gene ChrX:100943594-101081198 (-)
LP/J MGP_LPJ_G0035897
 protein coding gene ChrX:103490434-103643471 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035777
 protein coding gene ChrX:113474593-113635698 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036521
 protein coding gene ChrX:102208889-102346825 (-)
PWK/PhJ MGP_PWKPhJ_G0034658
 protein coding gene ChrX:84682809-84821426 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034487
 protein coding gene ChrX:87889150-88029859 (-)
WSB/EiJ MGP_WSBEiJ_G0035100
 protein coding gene ChrX:100911815-101039778 (-)



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
    neXtProt AC: NX_P46100
    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
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  • Phenotype Summary
    35 phenotypes from 5 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    10 images
    53 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
    81
  • 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
    1051
  • Tissues
    244
  • cDNA Data
    35
  • Literature Summary
    33
  • 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 45
      Genomic 3
      cDNA 37
      Primer pair 4
      Other 1

      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 140
      Developmental Gene Expression 33
      Diseases 2
      Gene Ontology 25
      Phenotypes 53
    • 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:347585 Leon NY, et al., Y chromosome damage underlies testicular abnormalities in ATR-X syndrome. iScience. 2024 May 17;27(5):109629
    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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    12/10/2024
    MGI 6.24     		The Jackson Laboratory