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Atrx Gene Detail
Summary
  • Symbol
    Atrx
  • Name
    alpha thalassemia/mental retardation syndrome X-linked
  • Synonyms
    4833408C14Rik, DXHXS6677E, Hp1bp2, HP1-BP38, Rad54, XH2, Xnp
  • Feature Type
    protein coding gene
  • IDs
    MGI:103067
    NCBI Gene: 22589
Location & Maps
more
  • Sequence Map
    ChrX:105797615-105929403 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      131789 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ATRX, alpha thalassemia/mental retardation syndrome X-linked
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATRX, alpha thalassemia/mental retardation syndrome X-linked
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATR2, JMS, MRX52, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
  • Links
    NCBI Gene ID: 546
    neXtProt AC: NX_P46100

  • Chr Location
    Xq21.1; chrX:77504878-77786269 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 416
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ATRX
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Atrx mouse models; 4 with human ATRX associations

Human Disease Mouse Models
       Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; ATRX   OMIM: 301040 View 3 models
       Alpha-Thalassemia Myelodysplasia Syndrome; ATMDS   OMIM: 300448
Mental Retardation, X-Linked 52; MRX52   OMIM: 300504
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1; MRXHF1   OMIM: 309580
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 5 alleles in 6 genetic backgrounds
    10 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    131
  • Gene trapped
    127
  • Targeted
    4
  • Incidental Mutations
    APF , CvDC
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
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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 OTTMUSG00000018268 VEGA Gene Model | MGI Sequence Detail 131789 C57BL/6J ±  kb
transcript OTTMUST00000044133 VEGA | MGI Sequence Detail 10275 Not Applicable  
polypeptide OTTMUSP00000019840 VEGA | MGI Sequence Detail 2476 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    390 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 40
    Genomic 2
    cDNA 36
    Primer pair 2

    Microarray probesets 12
Other
Accession IDs
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MGD-MRK-16212, MGD-MRK-18764, MGD-MRK-23929, MGD-MRK-38415, MGI:109370, MGI:1914653, MGI:2147885
References
more
  • Summaries
    All 86
    Developmental Gene Expression 20
    Diseases 3
    Gene Ontology 17
    Phenotypes 26
  • 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:219406 Levy MA, et al., ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions. Hum Mol Genet. 2015 Apr 1;24(7):1824-35

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
01/26/2016
MGI 6.02
The Jackson Laboratory