ATRX
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300032 Ensembl IDEnsembl:ENSG00000085224 HGNC IDHGNC:HGNC:886 PHARMGKB IDPA25179 Map LocationXq21.1 | |||||
GO terms in ATRX
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003677 | DNA binding |
| MF | TAS | GO:0003678 | DNA helicase activity |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | TAS | GO:0004386 | helicase activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: ATRX
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATRX
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP3651 | Pathways Affected in Adenoid Cystic Carcinoma |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATRX
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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