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Aliases for ATRX Gene

Aliases for ATRX Gene

  • Alpha Thalassemia/Mental Retardation Syndrome X-Linked 2 3 5
  • Mental Retardation, X-Linked 52 2 3
  • ATP-Dependent Helicase ATRX 3 4
  • X-Linked Nuclear Protein 3 4
  • X-Linked Helicase II 3 4
  • ZNF-HX 3 4
  • RAD54L 3 4
  • XH2 3 4
  • XNP 3 4
  • Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 (S. Cerevisiae) Homolog) 2
  • Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 Homolog, S. Cerevisiae) 3
  • DNA Dependent ATPase And Helicase 3
  • RAD54 Homolog (S. Cerevisiae) 2
  • Juberg-Marsidi Syndrome 2
  • Zinc Finger Helicase 3
  • Helicase 2, X-Linked 3
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • MRXHF1 3
  • MRX52 3
  • RAD54 3
  • ATR2 3
  • SFM1 3
  • SHS 3
  • JMS 3

External Ids for ATRX Gene

Previous HGNC Symbols for ATRX Gene

  • RAD54
  • JMS
  • MRX52

Previous GeneCards Identifiers for ATRX Gene

  • GC0XM072306
  • GC0XM073722
  • GC0XM074802
  • GC0XM075518
  • GC0XM075519
  • GC0XM076567
  • GC0XM076760
  • GC0XM070349

Summaries for ATRX Gene

Entrez Gene Summary for ATRX Gene

  • 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 an X-linked mental retardation (XLMR) syndrome most often accompanied by 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, Aug 2013]

GeneCards Summary for ATRX Gene

ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked) is a Protein Coding gene. Diseases associated with ATRX include mental retardation-hypotonic facies syndrome, x-linked and alpha-thalassemia/mental retardation syndrome. Among its related pathways are Chromatin Regulation / Acetylation. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is RAD54L2.

UniProtKB/Swiss-Prot for ATRX Gene

  • 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 telomers. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according (PubMed:24500201) is not sufficient to decrease chromatin condensation at telomers nor to increase expression of telomeric RNA in fibroblasts. May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, 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 CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis.

Gene Wiki entry for ATRX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATRX Gene

Genomics for ATRX Gene

Regulatory Elements for ATRX Gene

Enhancers for ATRX Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATRX on UCSC Golden Path with GeneCards custom track

Promoters for ATRX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATRX on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATRX gene promoter:

Genomic Location for ATRX Gene

Chromosome:
X
Start:
77,504,878 bp from pter
End:
77,786,269 bp from pter
Size:
281,392 bases
Orientation:
Minus strand

Genomic View for ATRX Gene

Genes around ATRX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATRX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATRX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATRX Gene

Proteins for ATRX Gene

  • Protein details for ATRX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46100-ATRX_HUMAN
    Recommended name:
    Transcriptional regulator ATRX
    Protein Accession:
    P46100
    Secondary Accessions:
    • D3DTE2
    • P51068
    • Q15886
    • Q59FB5
    • Q59H31
    • Q5H9A2
    • Q5JWI4
    • Q7Z2J1
    • Q9H0Z1
    • Q9NTS3

    Protein attributes for ATRX Gene

    Size:
    2492 amino acids
    Molecular mass:
    282586 Da
    Quaternary structure:
    • Interacts with DAXX to form the chromatin remodeling complex ATRX:DAXX. Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent manner. Interacts directly with CBX5 via the PxVxL motif. Interacts with RAD50, MRE11A and NBN; indicative for an association with the MRN complex. Interacts with histone H2AFY. Interacts with histone H3 peptides methylated at Lys-10 with preferences H3K9me3 > H3K9me2 > H3K9me1. Interacts with histone H3 peptides unmethylated at Lys-5 (H3K4me0). Interacts with MECP2, SMC1 and SMC3.
    SequenceCaution:
    • Sequence=AAA20872.1; Type=Miscellaneous discrepancy; Note=Many frameshifts and conflits.; Evidence={ECO:0000305}; Sequence=AAC50069.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAD92165.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATRX Gene

    Alternative splice isoforms for ATRX Gene

neXtProt entry for ATRX Gene

Proteomics data for ATRX Gene at MOPED

Post-translational modifications for ATRX Gene

  • Phosphorylated at serine residues during mitose. Phosphorylation may promote the release from the nuclear matrix and progression to mitosis.
  • Ubiquitination at Lys 202, Lys 967, and Lys 1774
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATRX (ATRX)

Domains & Families for ATRX Gene

Gene Families for ATRX Gene

Graphical View of Domain Structure for InterPro Entry

P46100

UniProtKB/Swiss-Prot:

ATRX_HUMAN :
  • The ADD domain predominantly interacts with histone H3 trimethylated at Lys-10(H3K9me3) (and to a lesser extent H3 mono-or dimethylated at Lys-10) and simultanously to histone H3 unmethylated at Lys-5 (H3K4me0). The interaction with H3K9me3 is disrupted by the presence of H3K4me3 suggesting a readout of the combined histone H3 methylation state.
  • Belongs to the SNF2/RAD54 helicase family.
  • Contains 1 GATA-type zinc finger.
Domain:
  • The ADD domain predominantly interacts with histone H3 trimethylated at Lys-10(H3K9me3) (and to a lesser extent H3 mono-or dimethylated at Lys-10) and simultanously to histone H3 unmethylated at Lys-5 (H3K4me0). The interaction with H3K9me3 is disrupted by the presence of H3K4me3 suggesting a readout of the combined histone H3 methylation state.
  • Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
  • Contains 1 ADD domain.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
Similarity:
  • Contains 1 GATA-type zinc finger.
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with ATRX: view

Function for ATRX Gene

Molecular function for ATRX Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
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 telomers. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according (PubMed:24500201) is not sufficient to decrease chromatin condensation at telomers nor to increase expression of telomeric RNA in fibroblasts. May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, 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 CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis.

Enzyme Numbers (IUBMB) for ATRX Gene

Gene Ontology (GO) - Molecular Function for ATRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0035064 methylated histone binding IDA 21421568
GO:0070087 chromo shadow domain binding IPI 15882967
genes like me logo Genes that share ontologies with ATRX: view
genes like me logo Genes that share phenotypes with ATRX: view

Human Phenotype Ontology for ATRX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ATRX Gene

Localization for ATRX Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATRX Gene

Nucleus. Chromosome, telomere. Nucleus, PML body. Note=Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with CBX5/HP1 alpha. Colocalizes with histone H3.3, DAXX, HIRA and ASF1A at PML-nuclear bodies. Colocalizes with cohesin (SMC1 and SMC3) and MECP2 at the maternal H19 ICR (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATRX Gene COMPARTMENTS Subcellular localization image for ATRX gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ATRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070603 SWI/SNF superfamily-type complex IDA 12953102
GO:1990707 nuclear subtelomeric heterochromatin IDA 26055325
genes like me logo Genes that share ontologies with ATRX: view

Pathways & Interactions for ATRX Gene

genes like me logo Genes that share pathways with ATRX: view

Pathways by source for ATRX Gene

1 Cell Signaling Technology pathway for ATRX Gene

Gene Ontology (GO) - Biological Process for ATRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006306 DNA methylation TAS 10742099
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 7697714
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with ATRX: view

No data available for SIGNOR curated interactions for ATRX Gene

Drugs & Compounds for ATRX Gene

(4) Drugs for ATRX Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
calcium Nutra 0

(128) Additional Compounds for ATRX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(14:0/14:0)
  • PS(28:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1w5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(14:0/16:0)
  • PS(30:0)
genes like me logo Genes that share compounds with ATRX: view

Transcripts for ATRX Gene

Unigene Clusters for ATRX Gene

Alpha thalassemia/mental retardation syndrome X-linked:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATRX Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - - - - -

Relevant External Links for ATRX Gene

GeneLoc Exon Structure for
ATRX
ECgene alternative splicing isoforms for
ATRX

Expression for ATRX Gene

mRNA expression in normal human tissues for ATRX Gene

Protein differential expression in normal tissues from HIPED for ATRX Gene

This gene is overexpressed in Serum (32.0) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATRX Gene



SOURCE GeneReport for Unigene cluster for ATRX Gene Hs.533526

mRNA Expression by UniProt/SwissProt for ATRX Gene

P46100-ATRX_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATRX: view

Protein tissue co-expression partners for ATRX Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATRX Gene

Orthologs for ATRX Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATRX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATRX 35
  • 91.47 (n)
  • 90.51 (a)
ATRX 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATRX 35
  • 93.01 (n)
  • 93.44 (a)
ATRX 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atrx 35
  • 86.53 (n)
  • 84.47 (a)
Atrx 16
Atrx 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATRX 35
  • 99.72 (n)
  • 99.76 (a)
ATRX 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atrx 35
  • 82.39 (n)
  • 76.53 (a)
oppossum
(Monodelphis domestica)
Mammalia ATRX 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATRX 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATRX 35
  • 75.58 (n)
  • 75.48 (a)
ATRX 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATRX 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atrx 35
  • 69.81 (n)
  • 72.35 (a)
Str.15784 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.19143 35
zebrafish
(Danio rerio)
Actinopterygii atrx 35
  • 65.62 (n)
  • 70.33 (a)
zgc66223 35
atrx 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta XNP 37
  • 47 (a)
XNP 36
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea xnp-1 37
  • 45 (a)
xnp-1 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD54 36
  • 23 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12668 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
Species with no ortholog for ATRX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATRX Gene

ENSEMBL:
Gene Tree for ATRX (if available)
TreeFam:
Gene Tree for ATRX (if available)

Paralogs for ATRX Gene

Paralogs for ATRX Gene

genes like me logo Genes that share paralogs with ATRX: view

Variants for ATRX Gene

Sequence variations from dbSNP and Humsavar for ATRX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_012113 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
VAR_012115 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
VAR_012116 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
VAR_012117 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
VAR_012118 Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)

Variation tolerance for ATRX Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATRX Gene

HapMap Linkage Disequilibrium report
ATRX
Human Gene Mutation Database (HGMD)
ATRX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATRX Gene

Disorders for ATRX Gene

MalaCards: The human disease database

(21) MalaCards diseases for ATRX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

ATRX_HUMAN
  • Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. {ECO:0000269 PubMed:10204841, ECO:0000269 PubMed:10417298, ECO:0000269 PubMed:10660327, ECO:0000269 PubMed:10995512, ECO:0000269 PubMed:12116232, ECO:0000269 PubMed:16955409, ECO:0000269 PubMed:7697714, ECO:0000269 PubMed:8968741, ECO:0000269 PubMed:9043863, ECO:0000269 PubMed:9326931}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]: A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. {ECO:0000269 PubMed:12858175}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. {ECO:0000269 PubMed:10398237, ECO:0000269 PubMed:10751095, ECO:0000269 PubMed:11050622, ECO:0000269 PubMed:15565397, ECO:0000269 PubMed:16222662, ECO:0000269 PubMed:8630485}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATRX

Genetic Association Database (GAD)
ATRX
Human Genome Epidemiology (HuGE) Navigator
ATRX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATRX
genes like me logo Genes that share disorders with ATRX: view

No data available for Genatlas for ATRX Gene

Publications for ATRX Gene

  1. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. (PMID: 7874112) Stayton C.L. … Consalez G.G. (Hum. Mol. Genet. 1994) 2 3 4 23 67
  2. XNP mutation in a large family with Juberg-Marsidi syndrome. (PMID: 8630485) Villard L. … Lyonnet S. (Nat. Genet. 1996) 2 3 23
  3. ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain. (PMID: 20159591) Kernohan K.D. … BAcrubAc N.G. (Dev. Cell 2010) 3 23
  4. BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54. (PMID: 19671661) Srivastava V. … Sengupta S. (J. Cell. Sci. 2009) 3 23
  5. Partial ATRX gene duplication causes ATR-X syndrome. (PMID: 19764021) Cohn D.M. … Friez M.J. (Am. J. Med. Genet. A 2009) 3 23

Products for ATRX Gene

Sources for ATRX Gene

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