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ATRX Gene

protein-coding   GIFtS: 65
GCID: GC0XM076760

Alpha Thalassemia/Mental Retardation Syndrome X-Linked

(Previous names: alpha thalassemia/mental retardation syndrome X-linked (RAD54...)
(Previous symbols: RAD54, JMS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alpha Thalassemia/Mental Retardation Syndrome X-Linked1 2     Juberg-Marsidi Syndrome1
XH22 3 5     RAD54 Homolog (S. Cerevisiae)1
XNP2 3 5     ATR22
JMS1 2     ZNF-HX2
RAD541 2     Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 Homolog, S.
Cerevisiae)2
RAD54L2 3     DNA Dependent ATPase And Helicase2
ATP-Dependent Helicase ATRX2 3     Helicase 2, X-Linked2
X-Linked Helicase II2 3     Transcriptional Regulator ATRX2
X-Linked Nuclear Protein2 3     Zinc Finger Helicase2
MRXHF12 5     EC 3.6.4.123
SFM12 5     Znf-HX3
SHS2 5     EC 3.6.18
Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 (S.
Cerevisiae) Homolog)1
     

External Ids:    HGNC: 8861   Entrez Gene: 5462   Ensembl: ENSG000000852247   OMIM: 3000325   UniProtKB: P461003   

Export aliases for ATRX gene to outside databases

Previous GC identifers: GC0XM072306 GC0XM073722 GC0XM074802 GC0XM075518 GC0XM075519 GC0XM076567 GC0XM070349


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 alpha-thalassemia myelodysplasia syndrome, somatic, and mental retardation-hypotonic facies syndrome, x-linked. GO annotations related to this gene include DNA helicase activity and chromatin binding. An important paralog of this gene is RAD54L2.

UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100
Function: Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be
involved in brain development and facial morphogenesis

Gene Wiki entry for ATRX Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATRX gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATRX promoter sequence
   Search Chromatin IP Primers for ATRX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATRX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.1   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

ATRX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATRX gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM076760:  view genomic region     (about GC identifiers)

Start:
76,760,356 bp from pter      End:
77,041,719 bp from pter
Size:
281,364 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100 (See protein sequence)
Recommended Name: Transcriptional regulator ATRX  
Size: 2492 amino acids; 282586 Da
Subunit: Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent
manner (By similarity). Interacts directly with CBX5 via the PxVxL motif
Sequence caution: Sequence=AAA20872.1; Type=Miscellaneous discrepancy; Note=Many frameshifts and conflits;
Sequence=AAC50069.1; Type=Frameshift; Positions=Several; Sequence=BAD92165.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for ATRX (see all 7):
2JM1 (3D)        2LBM (3D)        2LD1 (3D)        3QL9 (3D)        3QLA (3D)        3QLC (3D)    
Secondary accessions: D3DTE2 P51068 Q15886 Q59FB5 Q59H31 Q5H9A2 Q5JWI4 Q7Z2J1 Q9H0Z1 Q9NTS3
Alternative splicing: 6 isoforms:  P46100-1   P46100-2   P46100-3   P46100-4   P46100-5   P46100-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATRX: NX_P46100

Explore proteomics data for ATRX at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys202, Lys967, Lys1774
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATRX (P46100) (see all 69)
     LVFSQSL  TGTPLQN  FDASWNP  SGSVTYS 


    See ATRX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000480.3  NP_612114.2  

    ENSEMBL proteins: 
     ENSP00000362441   ENSP00000378967   ENSP00000383663   ENSP00000362438  

    ATRX Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ATRX
    GenScript Custom Purified and Recombinant Proteins Services for ATRX
    Novus Biologicals ATRX Proteins
    Novus Biologicals ATRX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ATRX Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATRX
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ATRX
    OriGene Custom Antibody Services for ATRX
    Novus Biologicals ATRX Antibodies
    Abcam antibodies for ATRX
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ATRX
    LSBio Antibodies in human, mouse, rat for ATRX

    ATRX Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATRX
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATRX
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR001841 Znf_RING
     IPR000330 SNF2_N
     IPR013083 Znf_RING/FYVE/PHD
     IPR025766 ADD
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P46100

    ProtoNet protein and cluster: P46100

    1 Blocks protein domain: IPB000330 SNF2 related domain

    UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100
    Domain: 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
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 1 ADD domain
    Similarity: Contains 1 GATA-type zinc finger
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 1 PHD-type zinc finger


    ATRX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATRX_HUMAN, P46100
    Function: Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be
    involved in brain development and facial morphogenesis
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003678DNA helicase activity TAS7697714
    GO:0003682chromatin binding IEA--
    GO:0004386helicase activity TAS7874112
         
    ATRX for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATRX:
     Increased cell death in HCC-19 

         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Atrx):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     mortality/aging  nervous system  reproductive system  vision/eye 

    ATRX for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATRX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATRX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATRX
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATRX

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATRX:
    hsa-mir-30a-5p (MIRT005165), hsa-mir-21-5p (MIRT030808), hsa-mir-331-3p (MIRT043383), hsa-mir-342-5p (MIRT038203), hsa-mir-615-3p (MIRT040139), hsa-mir-17-5p (MIRT050897)

    Block miRNA regulation of human, mouse, rat ATRX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATRX (see all 88):
    hsa-miR-323-3p hsa-miR-300 hsa-miR-3653 hsa-miR-761 hsa-miR-92b hsa-miR-130b hsa-miR-374b* hsa-miR-27a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ATRX
    Predesigned siRNA for gene silencing in human, mouse, rat ATRX

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATRX

    Clone
    Products:
         
    OriGene clones in human, mouse for ATRX (see all 10)
    OriGene ORF clones in mouse, rat for ATRX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATRX (NM_000489)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATRX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATRX

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ATRX
    Browse ESI BIO Cell Lines and PureStem Progenitors for ATRX 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATRX


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATRX_HUMAN, P46100: Nucleus. Note=Associated with pericentromeric heterochromatin during interphase and mitosis,
    probably by interacting with HP1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome ----
    GO:0000792heterochromatin ----
    GO:0005634nucleus IDA--
    GO:0005720nuclear heterochromatin TAS10570185
    GO:0005730nucleolus IDA--

    ATRX for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATRX: 
              DNA Damage Signaling Pathway in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATRX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATRX (P461001, 2, 3 ENSP000003624414) via UniProtKB, MINT, STRING, and/or I2D (see all 665)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006306DNA methylation TAS10742099
    GO:0006310DNA recombination TAS7697714
    GO:0006355regulation of transcription, DNA-templated TAS7697714
    GO:0030900forebrain development IEA--

    ATRX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATRX

    Selected HMDB Compounds for ATRX (see all 125)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    PS(14:0/14:0)Phosphatidylserine(14:0/14:0) (see all 7)----
    PS(14:0/14:1(9Z))Phosphatidylserine(14:0/14:1n5) (see all 13)----
    PS(14:0/16:0)1-myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine (see all 7)----
    PS(14:0/16:1(9Z))PS(14:0/16:1n7) (see all 13)----
    PS(14:0/18:0)Phosphatidylserine(32:0) (see all 7)----
    PS(14:0/18:1(9Z))PSer(14:0/18:1n9) (see all 13)----
    PS(14:0/18:2(9Z,12Z))PS(14:0/18:2) (see all 13)----
    PS(14:0/18:3(9Z,12Z,15Z))Phosphatidylserine(14:0/18:3) (see all 14)----
    PS(14:0/20:3(8Z,11Z,14Z))PSer(14:0/20:3) (see all 14)----

    3 Novoseek inferred chemical compound relationships for ATRX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 32.1 7 15653683 (2), 10209103 (1), 19017809 (1), 16818238 (1) (see all 6)
    zinc 19.3 8 10857753 (2), 10699177 (1), 10995512 (1), 17609377 (1) (see all 6)
    cytosine 11.2 1 15120073 (1)



    ATRX for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATRX gene (3 alternative transcripts): 
    NM_000489.4  NM_138270.3  NM_138271.1  

    Unigene Cluster for ATRX:

    Alpha thalassemia/mental retardation syndrome X-linked
    Hs.533526  [show with all ESTs]
    Unigene Representative Sequence: NM_000489
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373344(uc004ecp.4 uc010nlx.1 uc010nly.1) ENST00000395603(uc004ecq.4 uc004ecr.2)
    ENST00000480283(uc004eco.4) ENST00000479487 ENST00000400866 ENST00000460639
    ENST00000493470 ENST00000373341
    miRNA
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    Block miRNA regulation of human, mouse, rat ATRX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATRX (see all 88):
    hsa-miR-323-3p hsa-miR-300 hsa-miR-3653 hsa-miR-761 hsa-miR-92b hsa-miR-130b hsa-miR-374b* hsa-miR-27a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ATRX
    Predesigned siRNA for gene silencing in human, mouse, rat ATRX
    Clone
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    OriGene clones in human, mouse for ATRX (see all 10)
    OriGene ORF clones in mouse, rat for ATRX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATRX (NM_000489)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATRX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATRX
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATRX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATRX
      QuantiTect SYBR Green Assays in human, mouse, rat ATRX
      QuantiFast Probe-based Assays in human, mouse, rat ATRX

    Additional mRNA sequence: 

    AB102641.1 AB208928.1 AB209545.1 AK293241.1 AK295107.1 AK296959.1 AK297183.1 AK307791.1 
    AK308419.1 BC002521.2 BT007188.1 BX647222.1 L33812.1 L33813.1 U09820.1 U72936.2 
    U72937.2 U72938.2 

    22 DOTS entries:

    DT.75188922  DT.100797559  DT.95207537  DT.99950475  DT.95207550  DT.100736904  DT.121314392  DT.97845877 
    DT.121314448  DT.92442528  DT.92442532  DT.121314396  DT.121314430  DT.121314453  DT.121314456  DT.423143 
    DT.75111679  DT.92442504  DT.95332718  DT.99998422  DT.121314440  DT.95245849 

    Selected AceView cDNA sequences (see all 375):

    AW592380 CB114559 CD108402 BF574685 AI083617 U72938 BM968484 CA773477 
    BG654578 AI699830 NM_000489 AL707628 AA719092 AL707765 BQ008335 BQ778428 
    AA971532 AA806986 BM668434 BE884374 AI858806 BE501775 BU193209 BM479663 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATRX (see all 7)    About this scheme

    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:                                                                                                                                                


    ECgene alternative splicing isoforms for ATRX

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATRX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGAACCAT
    ATRX Expression
    About this image


    ATRX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
    ATRX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATRX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533526

    UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATRX: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATRX gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atrx1 , 5 alpha thalassemia/mental retardation syndrome X-linked more1, 5 86.53(n)1
    84.47(a)1
      X (47.26 cM)5
    225891  NM_009530.21  NP_033556.21 
     1057976155 
    chicken
    (Gallus gallus)
    Aves ATRX1 alpha thalassemia/mental retardation syndrome X-linked 75.58(n)
    75.48(a)
      422331  XM_420305.4  XP_420305.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATRX6
    alpha thalassemia/mental retardation syndrome X-li...
    70(a)
    1 ↔ 1
    GL343420.1(782258-838889)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.191432 Xenopus laevis transcribed sequence with moderate similarity more 79.4(n)    BX843733.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc662232 hypothetical protein MGC66223 75.68(n)   393626  BC057486.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta XNP3 DNA helicase 47(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea xnp-13   -- 45(a)   I(4666147-4671715)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD546
    DNA-dependent ATPase, stimulates strand exchange b...
    23(a)
    1 → many
    VII(193707-196403) YGL163C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATRX gene
    RAD54L22  RAD54L2  RAD54B2  
    7 SIMAP similar genes for ATRX using alignment to 8 protein entries:     ATRX_HUMAN (see all proteins):
    RAD54L2    SHPRH    ERCC6    SRCAP    SMARCA4    BTAF1
    SMARCA1

    ATRX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATRX (see all 3099)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0121194
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0121192 Q P mis40--------
    VAR_0012314
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0012312 C F mis40--------
    VAR_0012264
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0012262 P A mis40--------
    VAR_0121264
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0121262 Y C mis40--------
    VAR_0012324
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0012322 R C mis40--------
    VAR_0012294
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0012292 C R mis40--------
    VAR_0121234
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0121232 L S mis40--------
    VAR_0012284
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0012282 C S mis40--------
    VAR_0169164
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0169162 T M mis40--------
    VAR_0012394
    Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)4--see VAR_0012392 Y H mis40--------

    HapMap Linkage Disequilibrium report for ATRX (76760356 - 77010356 bp, first 250kb of ATRX)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATRX: --
    Human Gene Mutation Database (HGMD): ATRX
    Locus Specific Mutation Databases (LSDB): ATRX

    4 Site Specific Mutation Identification with PCR Assays for ATRX:
    Cosmic IdAA Change
    13840p.K971E
    13837p.R703*
    13839p.D1194N
    85983p.L192F
    SeqTarget long-range PCR primers for resequencing ATRX
    DNA2.0 Custom Variant and Variant Library Synthesis for ATRX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300032   
    OMIM disorders: 301040  300448  309580  
    UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100
  • 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. 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. 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ATRX (see all 52):    
    About MalaCards
    alpha-thalassemia myelodysplasia syndrome, somatic    mental retardation-hypotonic facies syndrome, x-linked    juberg marsidi syndrome    alpha-thalassemia/mental retardation syndrome
    alpha-thalassemia x-linked intellectual disability syndrome    thalassemia    alpha thalassemia    faces syndrome
    mental retardation    intellectual disability    mental retardation epilepsy    spastic diplegia
    gonadal dysgenesis    short stature    myelodysplastic syndromes    bloom syndrome
    rett syndrome    microcephaly    brachydactyly    werner syndrome

    2 diseases from the University of Copenhagen DISEASES database for ATRX:
    Thalassemia     Intellectual disability

    ATRX for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ATRX gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atr-x syndrome 98.5 24 8968741 (2), 16266892 (2), 10872473 (1), 10398234 (1) (see all 17)
    juberg-marsidi syndrome 90.4 4 11449489 (1), 8630485 (1)
    alpha-thalassemia 88.4 17 8644709 (3), 9043863 (2), 10398234 (1), 16480427 (1) (see all 10)
    mental retardation 83.1 59 8644709 (3), 19291773 (3), 17296936 (3), 12673795 (2) (see all 32)
    severe mental retardation 71.3 3 10742099 (1), 12673795 (1)
    thalassemia 67.6 13 14592816 (2), 11449489 (1), 14729260 (1), 8644709 (1) (see all 7)
    promyelocytic leukemia 59.6 3 14729260 (1), 12953102 (1), 17957225 (1)
    genitourinary anomaly 55.2 4 10742099 (1), 15350606 (1), 16813605 (1)
    myelodysplastic syndromes 52.6 6 14592816 (2), 16480427 (1), 19157545 (1), 18409179 (1)
    mild mental retardation 51.7 1 10632111 (1)

    GeneTests: ATRX
    GeneReviews: ATRX
    Genetic Association Database (GAD): ATRX
    Human Genome Epidemiology (HuGE) Navigator: ATRX (1 document)

    Export disorders for ATRX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATRX gene, integrated from 10 sources (see all 231):
    (articles sorted by number of sources associating them with ATRX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. (PubMed id 7874112)1, 2, 3, 9 Stayton C.L.... Consalez G.G. (Hum. Mol. Genet. 1994)
    2. XNP mutation in a large family with Juberg-Marsidi syndrome. (PubMed id 8630485)1, 2, 3, 9 Villard L.... Lyonnet S. (Nat. Genet. 1996)
    3. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. (PubMed id 10570185)1, 2, 9 McDowell T.L.... Higgs D.R. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    4. Structural consequences of disease-causing mutations in the ATRX- DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. (PubMed id 17609377)1, 2, 9 Argentaro A.... Rhodes D. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    5. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. (PubMed id 9499421)1, 2, 9 Cardoso C....Colleaux L. (Hum. Mol. Genet. 1998)
    6. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. (PubMed id 8968741)1, 2, 9 Picketts D.J....Gibbons R.J. (Hum. Mol. Genet. 1996)
    7. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. (PubMed id 9043863)1, 2, 9 Villard L.... Fontes M. (Eur. J. Hum. Genet. 1996)
    8. Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (PubMed id 10995512)1, 2, 9 Wada T.... Saitoh S. (Am. J. Med. Genet. 2000)
    9. Carpenter-Waziri syndrome results from a mutation in XNP. (PubMed id 10398237)1, 2, 9 Abidi F....Curtis M. (Am. J. Med. Genet. 1999)
    10. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. (PubMed id 9244431)1, 2, 9 Villard L.... Fontes M. (Genomics 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 546 HGNC: 886 AceView: ATRX Ensembl:ENSG00000085224 euGenes: HUgn546
    ECgene: ATRX H-InvDB: ATRX

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATRX Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATRX Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATRX[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATRX gene:
    Search GeneIP for patents involving ATRX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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