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(5)

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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; wallaby, tammar    (Mammalian Orthology)
Comparative Map (Mouse/Human Atrx ± 2 cM)

Gene Tree: Atrx

Human ortholog

ATRX alpha thalassemia/mental retardation syndrome X-linked NCBI Gene ID 546
Human Synonyms: ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
Human ChrX:76760356-77041719 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human ATRX (3)

Alleles and phenotypes

All alleles(132) : Targeted(5) Gene trapped(127)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	DNA repair, forebrain development, ...
Component	heterochromatin, nuclear chromosome, ...
Function	ATP binding, chromatin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (15 records)
Data Summary: Results (160)    Tissues (149)    Images (10)
Theiler Stages: 10, 12, 19, 21, 22, 23, 25, 28

Assay Type	Results
RNA in situ	160

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

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(121) RefSeq(2) UniProt(15)

Polymorphisms

RFLP(1) : SNPs(361 from dbSNP Build 128)

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	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:188393 Michod D, et al., Calcium-dependent dephosphorylation of the histone chaperone DAXX regulates H3.3 loading and transcription upon neuronal activation. Neuron. 2012 Apr 12;74(1):122-35
All references(79)

Other accession IDs

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