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Atrx
Gene Detail
Symbol

Name
ID
Atrx
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
MGI:103067
Synonyms
4833408C14Rik, DXHXS6677E, Hp1bp2, HP1-BP38, Rad54, XH2, Xnp
Feature Type
protein coding gene
Genetic Map
Chromosome X
47.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
ChrX:105797615-105929403 bp, - strand
From VEGA annotation of GRCm38

  131789 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:416  Vertebrate Homology Class
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: Atrx

Human
homologs
ATRX, alpha thalassemia/mental retardation syndrome X-linked
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 546
neXtProt AC: NX_P46100

Human Synonyms: ATR2, JMS, MRX52, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX

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

Disease Associations: (3) Diseases Associated with Human ATRX

Mutations,
alleles, and
phenotypes
All mutations/alleles(131) : Gene trapped(127) Targeted(4)
Incidental mutations (data from 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.
 
Human Diseases Modeled in Mice Using Atrx (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(10)
Interactions
Atrx interacts with 449 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (55 annotations)
Process cellular response to DNA damage stimulus, cellular response to hydroxyurea, ...
Component chromosome, chromosome, telomeric region, ...
Function ATP binding, chromatin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (220)    Tissues (199)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 7
RNA in situ 213
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase atrx ; ZFIN atrx    NEW 
Molecular
reagents
All nucleic(40) Genomic(2) cDNA(36) Primer pair(2)
Microarray probesets(12)
Other database
links
VEGA Gene Model OTTMUSG00000018268 (Evidence)
Ensembl Gene Model ENSMUSG00000031229 (Evidence)
Entrez Gene 22589 (Evidence)
DFCI TC1572963, TC1606553, TC1623491, TC1629261, TC1630183
DoTS DT.40153305, DT.55280069, DT.91563365, DT.94313206, DT.97344752
NIA Mouse Gene Index U039624
EC 3.6.4.12
Consensus CDS Project CCDS41095.1
International Mouse Phenotyping Consortium Status Atrx
Sequences
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 sequences
All sequences(180) RefSeq(37) UniProt(23)
Polymorphisms
RFLP(1) : SNPs within 2kb(390 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR025766 ADD domain
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR000330 SNF2-related, N-terminal domain
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000004503 transcriptional regulator ATRX
References
(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
All references(89)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-16212, MGD-MRK-18764, MGD-MRK-23929, MGD-MRK-38415, MGI:109370, MGI:1914653, MGI:2147885

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
08/25/2015
MGI 6.0
The Jackson Laboratory