ATRX Gene (Protein Coding)

ATRX Chromatin Remodeler

GC0XM077504
GIFtS:
47
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 mitos... See more...

Aliases for ATRX Gene

Aliases for ATRX Gene

  • ATRX Chromatin Remodeler 2 3 5
  • Transcriptional Regulator ATRX 3 4
  • ATP-Dependent Helicase ATRX 3 4
  • X-Linked Nuclear Protein 3 4
  • X-Linked Helicase II 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
  • Alpha Thalassemia/Mental Retardation Syndrome X-Linked 2
  • Mental Retardation, X-Linked 52 2
  • RAD54 Homolog (S. Cerevisiae) 2
  • Juberg-Marsidi Syndrome 2
  • EC 3.6.1'); 54
  • EC 3.6.4.12 4
  • EC 3.6.1 54
  • ZNF-HX 3
  • Znf-HX 4
  • MRX52 3
  • RAD54 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 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]

CIViC Summary for ATRX Gene

GeneCards Summary for ATRX Gene

ATRX (ATRX Chromatin Remodeler) is a Protein Coding gene. Diseases associated with ATRX include Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked and Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is RAD54L2.

UniProtKB/Swiss-Prot Summary 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 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 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. 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).

Gene Wiki entry for ATRX Gene

Additional gene information for ATRX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATRX Gene

Genomics for ATRX Gene

GeneHancer (GH) Regulatory Elements for ATRX Gene

Promoters and enhancers for ATRX Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ077784 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.1 -139 5.6 SP1 POLR2A ATF1 CREB1 NFYC ZNF148 NKRF GTF2F1 ZFX MLLT1 ATRX ATP7A TAF9B RF00017-8541 RF00017-8540 RF00017-8538
GH0XJ077682 Promoter 0.3 EPDnew 750.1 +104.1 104059 0.1 lnc-MAGT1-1 ATRX RF00017-8536
GH0XJ078102 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -320.1 -320099 7.3 SIN3A ZBTB40 SP1 MLX POLR2A CREB1 MYC NFYC ETV6 ELF1 PGK1 TAF9B ATRX CYSLTR1 FGF16 lnc-TAF9B-2 NONHSAG054842.2
GH0XJ077694 Enhancer 0.5 Ensembl 13.3 +91.6 91568 0.2 PKNOX1 OSR2 SCRT1 FEZF1 ZNF843 PRDM6 ATRX lnc-MAGT1-1 RF00017-8536
GH0XJ077952 Enhancer 0.7 Ensembl ENCODE 9.8 -166.7 -166732 2.8 MAFK ZNF316 NFE2 ZNF37A MAFG EMSY ATRX RF00017-8538 LOC101241901 PGK1 ATP7A lnc-COX7B-4 ENSG00000248503
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATRX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATRX gene promoter:
  • AML1a

Genomic Locations for ATRX Gene

Genomic Locations for ATRX Gene
chrX:77,504,878-77,786,269
(GRCh38/hg38)
Size:
281,392 bases
Orientation:
Minus strand
chrX:76,760,356-77,041,719
(GRCh37/hg19)
Size:
281,364 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 Structure • Gene Density

RefSeq DNA sequence for ATRX Gene

Proteins for ATRX Gene

Products:

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  • 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, MRE11 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. Interacts with SETDB1, TRIM28 and ZNF274 (PubMed:27029610).
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ATRX Gene

Protein Expression for ATRX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATRX Gene

P46100:
  • YESSSDGTEKLPE
  • SIISKKKRQ
  • FQKDSIYRHP
  • AWAEYEAEK
  • SHTGFCQSSGDEA
  • HLMMPKPPNLIM
  • SCDSSEDKK
  • DQNSDSDEMLA
  • LPPKHEYV
  • LVFSQSL
  • SSKRNTKE
  • STSGSDFDTKKGKS
  • SNPSSPAPDWYKDFVTD
  • TGTPLQN
  • FDASWNP
  • LGINLVAANRV
  • SSGSSRSKRKPSIVTKYVESDDEKP
  • CVQRILMNRRLQQQY
  • SGSVTYS
  • MGLGKTL
  • NLEQLLQQNKKKIKV
  • RKKDKRNS
  • VAANRVIIFDA
  • EYHCMVNF
  • RWCAEGGNLICCD
  • SQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATNS
  • KLKPHQV
  • EDLDMDIVSVPSSVPEDIF
  • TYQQATL
  • VWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLT
  • NQVNSESDSDSEESKKPRYRHRLLRHKL
  • TAVRIQPLEDIIS
  • SESSNYDSELE
  • DFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQK
  • EEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEEEE
  • NSDMMEN
  • TLVQKLHDFLAHSSEESEET
  • VVCDEGH
  • PSNYQQIDMRGMYQ
  • SSDEQKIKPVTENLVL
  • KEKKRNSLR
  • TGNNPSVSLKL
  • KPLIYKGEGKW
  • FRVYRFGQTKPVY
  • QWYCYIC
  • SDGESGEEK
  • ALVDPGPD
  • CTACGQQVN
  • EPANTSE
  • KYYMSDDISRD
  • ENSENDITMQSLPKGTVIVQPEPVLNEDKDDFKGPEFRSR
  • HSSSSDTDINE
  • RNLGRKE
  • VAGGMQPPPLQRAPPP
  • CHNAFCKKCI
  • TKPKEHKE
  • IQCKLYQYYLDHLTGVGN
  • PEPLLDLVTAC
  • EGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGY
  • TKRKQADITSSSS
  • TKLRQLKAFKSVL
  • RSKNPGPS
  • KGRNRRKVSSEDSED
  • KGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGG
  • AMEVQSS
  • EKLEVSELATVKRPQERSYMLQRWQEDGGVMIIGYEMYRN
  • AQSRKKWAEEFNDETNVRGRLFIISTKAGSLGINLVAANR
  • TVDDDDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDE
  • DIKKAHLALEEDLNSE

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 Lys202, Lys967, and Lys1774
  • Modification sites at PhosphoSitePlus

Other Protein References for ATRX Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATRX Gene

Gene Families for ATRX Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ATRX Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATRX Gene

GenScript: Design optimal peptide antigens:
  • Alpha thalassemia/mental retardation syndrome X-linked (A4LAA3_HUMAN)
  • Znf-HX (ATRX_HUMAN)
  • Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) (Q5JX93_HUMAN)
  • Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) (Q86U63_HUMAN)

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.
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.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with ATRX: view

Function for ATRX Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ATRX Gene

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 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 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. 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.

Enzyme Numbers (IUBMB) for ATRX Gene

Gene Ontology (GO) - Molecular Function for ATRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0003682 chromatin binding IDA 27029610
GO:0004386 helicase activity IEA --
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

CRISPR Products

Clone Products

  • Addgene plasmids for ATRX

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATRX gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IEA --
GO:0000780 condensed nuclear chromosome, centromeric region IEA --
GO:0000781 chromosome, telomeric region IEA --
GO:0000784 colocalizes_with nuclear chromosome, telomeric region ISS --
GO:0000792 heterochromatin IEA --
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 BioSystems pathway for ATRX Gene
1 Cell Signaling Technology pathway for ATRX Gene

SIGNOR curated interactions for ATRX Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for ATRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000212 meiotic spindle organization IEA --
GO:0006281 DNA repair IEA --
GO:0006306 DNA methylation TAS 10742099
GO:0006325 chromatin organization IEA --
GO:0006334 nucleosome assembly IDA 20651253
genes like me logo Genes that share ontologies with ATRX: view

Drugs & Compounds for ATRX Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Calcium Approved Nutra 7773
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(28:0)
  • pSer(14:0/14:0)
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(30:0)
  • pSer(14:0/16:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1W7)
  • Phosphatidylserine(30:1)
genes like me logo Genes that share compounds with ATRX: view

Transcripts for ATRX Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ATRX Gene

(3) REFSEQ mRNAs :
(27) Additional mRNA sequences :
(369) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ATRX

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATRX Gene

mRNA expression in normal human tissues for ATRX Gene
mRNA expression by GTEx for ATRX GenemRNA expression by BioGPS 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, MaxQB, and MOPED for ATRX Gene



Protein tissue co-expression partners for ATRX Gene

NURSA nuclear receptor signaling pathways regulating expression of ATRX Gene:

ATRX

SOURCE GeneReport for Unigene cluster for ATRX Gene:

Hs.533526

mRNA Expression by UniProt/SwissProt for ATRX Gene:

P46100-ATRX_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATRX Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Blood(2.6)
  • Lung(2.6)
  • Intestine(2.5)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATRX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • salivary gland
  • sinus
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ATRX: view

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
chimpanzee
(Pan troglodytes)
 Mammalia ATRX 33 32
  • 99.72 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ATRX 33 32
  • 93.01 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ATRX 33 32
  • 91.47 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Atrx 17 33 32
  • 86.53 (n)
rat
(Rattus norvegicus)
 Mammalia Atrx 32
  • 82.39 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ATRX 33
  • 78 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ATRX 33
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ATRX 33 32
  • 75.58 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ATRX 33
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atrx 32
  • 69.81 (n)
Str.15784 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.19143 32
zebrafish
(Danio rerio)
 Actinopterygii atrx 33 32
  • 65.62 (n)
 OneToOne
zgc66223 32
fruit fly
(Drosophila melanogaster)
 Insecta XNP 33 34
  • 39 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea xnp-1 33 34
  • 36 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RAD54 33
  • 23 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 53 (a)
 OneToMany
-- 33
  • 40 (a)
 OneToMany
Cin.12668 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.12668 32
Species where no ortholog for ATRX was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATRX: view image

Paralogs for ATRX Gene

Paralogs for ATRX Gene

(7) SIMAP similar genes for ATRX Gene using alignment to 8 proteins:

  • ATRX_HUMAN
  • A4LAA3_HUMAN
  • H0Y3T0_HUMAN
  • L8E6W5_HUMAN
  • L8E8D0_HUMAN
  • Q5H9A3_HUMAN
  • Q5JX93_HUMAN
  • Q86U63_HUMAN
genes like me logo Genes that share paralogs with ATRX: view

Variants for ATRX Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ATRX Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1039587651 uncertain-significance, ATR-X syndrome 77,683,747(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1057517948 likely-pathogenic, Mental retardation-hypotonic facies syndrome X-linked, 1, not provided 77,574,322(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057518708 likely-pathogenic, ATR-X syndrome, Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] 77,688,843(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057521987 uncertain-significance, not specified, Inborn genetic diseases, not provided 77,616,639(-) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060499658 pathogenic, ATR-X syndrome 77,589,929(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ATRX Gene

Variant ID Type Subtype PubMed ID
dgv2316e212 CNV loss 25503493
dgv2317e212 CNV loss 25503493
dgv2318e212 CNV loss 25503493
esv3574091 CNV loss 25503493
esv3574092 CNV loss 25503493
esv3574095 CNV loss 25503493
esv3576944 CNV gain 25503493

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)

Additional Variant Information for ATRX Gene

Human Gene Mutation Database (HGMD)
ATRX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATRX

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATRX Gene

Disorders for ATRX Gene

MalaCards: The human disease database

(29) MalaCards diseases for ATRX Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ATRX in MalaCards View complete list of genes associated with diseases

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:14990586, ECO:0000269 PubMed:16955409, ECO:0000269 PubMed:21421568, 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.
  • 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.
  • 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.

Additional Disease Information for ATRX

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

No data available for Genatlas for ATRX Gene

Publications for ATRX Gene

  1. XNP mutation in a large family with Juberg-Marsidi syndrome. (PMID: 8630485) Villard L … Lyonnet S (Nature genetics 1996) 2 3 4 23 56
  2. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. (PMID: 7874112) Stayton CL … Boncinelli E (Human molecular genetics 1994) 2 3 4 23 56
  3. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. (PMID: 17296936) Nan X … Bird A (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23 56
  4. Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. (PMID: 17609377) Argentaro A … Rhodes D (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23 56
  5. A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. (PMID: 14990586) Tang J … Yang X (The Journal of biological chemistry 2004) 3 4 23 56

ExternalLinks

View latest publications for ATRX gene in Mastermind

Products for ATRX Gene

  • Addgene plasmids for ATRX

Sources for ATRX Gene