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:105797615-105929397 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

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 zebrafish

Gene Tree: Atrx

Human homologs

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

Mutations, alleles, and phenotypes

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)

Interactions

Atrx interacts with 450 markers (Mir1a-1, Mir1a-2, Mir1b, ...)

View All

Gene Ontology (GO) classifications

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

Expression

Literature Summary: (18 records)

Data Summary: Results (161)    Tissues (150)    Images (10)
Theiler Stages: 10, 12, 19, 21, 22, 23, 25, 28

Assay Type	Results
RNA in situ	161

cDNA source data(34)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular reagents

All nucleic(38) Genomic(2) cDNA(35) Primer pair(1)
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 Knockout Project Status	Atrx

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018268	VEGA Gene Model | MGI Sequence Detail	131783	C57BL/6J
transcript	OTTMUST00000044133	VEGA | MGI Sequence Detail	10269	Not Applicable
polypeptide	OTTMUSP00000019840	VEGA | MGI Sequence Detail	2476	Not Applicable

All sequences(149) RefSeq(30) UniProt(15)

Polymorphisms

RFLP(1) : SNPs within 2kb(390 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-16212, MGD-MRK-18764, MGD-MRK-23929, MGD-MRK-38415, MGI:109370, MGI:1914653, MGI:2147885