ATRX Chromosome X
ATRX chromatin remodeler
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What This Gene Does
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]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000085224
Associated Conditions (27)
Alpha thalassemia-X-linked intellectual disability syndrome
Inborn genetic diseases
Microcephaly
Global developmental delay
ATRX-related disorder
Intellectual disability-hypotonic facies syndrome
X-linked
1
History of neurodevelopmental disorder
Acquired hemoglobin H disease
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome
Intellectual disability
ATR-X-related syndrome
See cases
Developmental disorder
Melanoma
Colon adenocarcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
IDH-wildtype glioblastoma
Alpha-thalassemia/intellectual disability syndrome
+7 more conditions
Key Variants
RS1045875195
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1057522580
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1057523431
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1060499760
Conflicting classifications of pathogenicity
Microcephaly, Global developmental delay, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1064796745
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1064796774
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS111725949
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, ATRX-related disorder
Health Risk
RS1135401793
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked
Health Risk
RS122445110
Conflicting classifications of pathogenicity
Intellectual disability-hypotonic facies syndrome, X-linked, Inborn genetic diseases
Health Risk
RS1225852818
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1271635013
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
RS1297294136
Conflicting classifications of pathogenicity
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
Health Risk
All Variants (281)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045875195 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1057522580 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1057523431 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1060499760 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Global developmental delay, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1064796745 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1064796774 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS111725949 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, ATRX-related disorder |
| RS1135401793 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445110 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonic facies syndrome, X-linked, Inborn genetic diseases |
| RS1225852818 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1271635013 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1297294136 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1308342676 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked |
| RS1309299805 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1339589345 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1340830235 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1402319857 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1411348345 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonic facies syndrome, X-linked, 1 |
| RS141240580 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases |
| RS1412505197 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Acquired hemoglobin H disease |
| RS142180002 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS142561199 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS143621153 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Acquired hemoglobin H disease, Intellectual disability-hypotonic facies syndrome |
| RS1448764008 | Health Risk | Conflicting classifications of pathogenicity | ATRX-related disorder, Alpha thalassemia-X-linked intellectual disability syndrome, ATRX-related disorder |
| RS1449091873 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS145678415 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS146521598 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS147169853 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS148513102 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS149195735 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia X-linked intellectual disability (ATRX) syndrome, Inborn genetic diseases |
| RS149232501 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS149249195 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS150484080 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, ATRX-related disorder |
| RS150801485 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557096992 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557106489 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked |
| RS1557107890 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557118764 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557119999 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557124033 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases |
| RS1557137075 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557137763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases |
| RS1557138007 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked |
| RS1557138081 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases |
| RS1557139658 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557140572 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557140622 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557141410 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557141862 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS1557142053 | Health Risk | Conflicting classifications of pathogenicity | Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |