AlphaFold predicted structure
ATRX · P46100
Mean pLDDT
51.8/ 100
Low
2,492 residues
Confidence breakdown
- Very high(≥ 90)6%
- Confident(70–90)30%
- Low(50–70)6%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ATRX
Chr Xq21.1ATRX chromatin remodeler
- Aliases:
- XH2, XNP
- MANE:
- ENST00000373344.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesDifferences in sex development
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesEarly onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesGastrointestinal neuromuscular disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Severe microcephaly
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Cytopenias and congenital anaemias
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Disease associations (Open Targets)
alpha thalassemia-X-linked intellectual disability syndrome
0.85Alpha-thalassemia - X-linked intellectual disability syndrome
0.84intellectual disability-hypotonic facies syndrome, X-linked, 1
0.79X-linked intellectual disability - hypotonic face
0.70alpha-thalassemia-myelodysplastic syndrome
0.66Alpha-thalassemia - myelodysplastic syndrome
0.66alpha thalassemia-intellectual disability syndrome type 1
0.61ATR-X-related syndrome
0.57adrenal cortex carcinoma
0.56leiomyosarcoma
0.56
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Chromatin remodeler ATRX
Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCF within the H19 imprinting control region (ICR) and involved in establishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610)
Diseases associated with ATRX
Curated MONDO disease pages that list ATRX among their top associated genes.