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Gene Detail
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
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:105797615-105929397 bp, - strand
From VEGA annotation of GRCm38

  131783 bp   ±  kb flank

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

Mouse Genome Browser
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

Gene Tree: Atrx

Human Homolog ATRX, alpha thalassemia/mental retardation syndrome X-linked
NCBI Gene ID 546
neXtProt AC  NX_P46100
Human Synonyms  ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
Human Chr (Location)  Xq21.1; chrX:77504878-77786269 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human ATRX
alleles, and
All mutations/alleles(131) : Gene trapped(127) Targeted(4)
Incidental mutations (data from APF )
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 Using Mouse Atrx (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(10)
Atrx interacts with 450 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
All GO classifications: (55 annotations)
Process ATP catabolic process, cellular response to DNA damage stimulus, ...
Component chromosome, chromosome, telomeric region, ...
Function ATP binding, chromatin binding, ...
External Resources: FuncBase
Literature Summary: (18 records)
Data Summary: Results (161)    Tissues (150)    Images (10)
Theiler Stages: 10, 12, 19, 21, 22, 23, 25, 27
Assay TypeResults
RNA in situ 161
cDNA source data(34)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(38) Genomic(2) cDNA(35) Primer pair(1)
Microarray probesets(12)
Other database
VEGA Gene ModelOTTMUSG00000018268 (Evidence)
Ensembl Gene ModelENSMUSG00000031229 (Evidence)
Entrez Gene22589 (Evidence)
DFCITC1572963, TC1606553, TC1623491, TC1629261, TC1630183
DoTSDT.40153305, DT.55280069, DT.91563365, DT.94313206, DT.97344752
NIA Mouse Gene IndexU039624
Consensus CDS ProjectCCDS41095.1
International Mouse Knockout Project StatusAtrx
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018268 VEGA Gene Model | MGI Sequence Detail 131783 C57BL/6J ±  kb
transcript OTTMUST00000044133 VEGA | MGI Sequence Detail 10269 Not Applicable 
polypeptide OTTMUSP00000019840 VEGA | MGI Sequence Detail 2476 Not Applicable 

For the selected sequences
All sequences(149) RefSeq(30) UniProt(15)
Polymorphisms RFLP(1) : SNPs within 2kb(390 from dbSNP Build 137)
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
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:209584 Clynes D, et al., ATRX dysfunction induces replication defects in primary mouse cells. PLoS One. 2014;9(3):e92915
All references(86)
Disease annotation references (2)
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
MGI 5.19
The Jackson Laboratory