ATRX
Transcriptional regulator and chromatin remodeler implicated in alpha-thalassemia, intellectual disability, and cancer
Gene Information Card
| Symbol | ATRX |
|---|---|
| Full Name | ATRX chromatin remodeler |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 546 ncbi.nlm.nih.gov/gene/546 |
| Ensembl ID | ENSG00000085224 |
| UniProt ID | P46100 |
| OMIM ID | 300032 |
| HGNC ID | 886 |
| Aliases | XNP, RAD54L, MRXHF1, ATR2, ZNF-HX, SFM1, SHS, RAD54, RAD54L2, XH2 |
Description
The ATRX gene encodes a member of the SWI/SNF family of chromatin remodeling proteins. ATRX is involved in transcriptional regulation, chromatin remodeling, and DNA repair. It is essential for normal development and is frequently mutated in alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X syndrome), and various cancers, including gliomas and pancreatic neuroendocrine tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X syndrome) | Loss-of-function mutations in ATRX impair chromatin remodeling, leading to reduced alpha-globin expression and developmental defects. | OMIM #301040 |
| ATRX-associated myelodysplastic syndrome (MDS) | Somatic mutations in ATRX are associated with alternative lengthening of telomeres (ALT) and genomic instability. | ClinVar; COSMIC |
| Glioma (IDH-mutant) | ATRX mutations co-occur with IDH1/IDH2 mutations and TP53 mutations, contributing to ALT and tumor progression. | COSMIC; NCBI PubMed |
| Pancreatic neuroendocrine tumors (PanNET) | ATRX loss-of-function mutations are frequent and associated with ALT and poor prognosis. | COSMIC; NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebral cortex) | 8.2 | Medium |
| Bone marrow | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 9.8 | High expression |
| K562 (leukemia) | 7.5 | Medium expression |
| SH-SY5Y (neuroblastoma) | 6.2 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.736C>T (p.Arg246*) | Nonsense | Rare | Loss of function; truncation of ATRX protein |
| c.5150G>A (p.Arg1717His) | Missense | Common in ATR-X syndrome | Impaired chromatin remodeling activity |
| c.5410C>T (p.Arg1804Cys) | Missense | Recurrent in glioma | ALT activation; loss of function |
| c.6163_6164del (p.Leu2055Valfs*2) | Frameshift deletion | Somatic in PanNET | Loss of function; ALT phenotype |
Mutation functional classification
Loss of Function (LOF)
Most ATRX mutations are loss-of-function, leading to impaired chromatin remodeling, derepression of repetitive elements, and activation of the alternative lengthening of telomeres (ALT) pathway.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ATRX.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg1717His) may exert dominant-negative effects by disrupting protein-protein interactions, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004386 (helicase activity) | • GO:0005515 (protein binding) |
| • GO:0005634 (nucleus) | • GO:0006338 (chromatin remodeling) |
| • GO:0006281 (DNA repair) | • GO:0000723 (telomere maintenance) |
| • GO:0006355 (regulation of transcription | • DNA-templated) |
Pathways
• Alternative lengthening of telomeres (ALT) pathway
• Chromatin remodeling by SWI/SNF complexes
• DNA damage response (DDR)
Protein Summary
ATRX is a large nuclear protein (280 kDa) belonging to the SWI/SNF family of ATP-dependent chromatin remodelers. It contains an N-terminal ADD domain (ATRX-DNMT3-DNMT3L) that binds histone H3 tails, a central SNF2-related helicase/ATPase domain, and a C-terminal domain involved in protein interactions. ATRX forms a complex with DAXX to deposit histone variant H3.3 at telomeres and pericentromeric heterochromatin. Loss of ATRX function leads to telomere dysfunction, genomic instability, and activation of the ALT pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATRX Knockout HEK293T Cell Line | EDC07687 | Human | 546 | Details Get a Quote |
| ATRX(N-flag-tag) Overexpression HEK293T Stable Cell Line | EDC90093 | Human | 546 | Details Get a Quote |
| ATRX(p.F1873A) Overexpression HEK293T Stable Cell Line | EDC90094 | Human | 546 | Details Get a Quote |
| ATRX(p.D1916_S1995del80) Overexpression HEK293T Stable Cell Line | EDC90095 | Human | 546 | Details Get a Quote |
| ATRX（p.D1916-S1995del） Point Mutation in HEK293T Cell Line | EDC06014 | Human | 546 | Details Get a Quote |
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