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Gene: ATRX (ATRX chromatin remodeler) Homo sapiens
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Symbol: ATRX
Name: ATRX chromatin remodeler
Description: The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha thalassemia/mental retardation syndrome X-linked; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); ATP-dependent helicase ATRX; ATR2; ATRX, chromatin remodeler; DNA dependent ATPase and helicase; helicase 2, X-linked; JMS; Juberg-Marsidi syndrome; mental retardation, X-linked 52; MGC2094; MRX52; MRXHF1; RAD54; RAD54 homolog; RAD54L; SFM1; SHS; Sutherland-Haan X-linked mental retardation syndrome; transcriptional regulator ATRX; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Zinc finger helicase; ZNF-HX
Orthologs:
Mus musculus (house mouse) : Atrx (ATRX, chromatin remodeler)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atrx (ATRX, chromatin remodeler)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Atrx (ATRX chromatin remodeler)
Pan paniscus (bonobo/pygmy chimpanzee) : ATRX (ATRX chromatin remodeler)
Canis lupus familiaris (dog) : ATRX (ATRX chromatin remodeler)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atrx (ATRX chromatin remodeler)
Sus scrofa (pig) : ATRX (ATRX chromatin remodeler)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X77,504,878 - 77,786,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X76,760,356 - 77,041,755 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X76,647,012 - 76,928,375 (-)NCBINCBI36hg18NCBI36
CeleraX77,001,253 - 77,282,613 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,349,443 - 70,629,029 (-)NCBIHuRef
CHM1_1X76,653,073 - 76,934,456 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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