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STON1-GTF2A1L Gene

protein-coding   GIFtS: 41
GCID: GC02P048787

STON1-GTF2A1L Readthrough

  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
STON1-GTF2A1L Readthrough1 2
Stoned B/TFIIA Alpha/Beta Like Factor1
SALF2
STON1-GTF2A1L Protein2
Stoned B/TFIIA-Alpha/Beta-Like Factor2
Putative Uncharacterized Protein ALF4

External Ids:    HGNC: 306511   Entrez Gene: 2867492   Ensembl: ENSG000000687817   UniProtKB: Q53S484   

Export aliases for STON1-GTF2A1L gene to outside databases

Previous GC identifers: GC02P048650 GC02P048652 GC02P048653 GC02P048759 GC02P048762 GC02P048529 GC02P048766 GC02P048769 GC02P048775 GC02P048778 GC02P048784


(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 STON1-GTF2A1L Gene:
STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and
GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual
elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple
transcript variants. The significance of these read-through variants and the function of the resulting protein
products have not yet been determined. (provided by RefSeq, Oct 2010)

GeneCards Summary for STON1-GTF2A1L Gene:
STON1-GTF2A1L (STON1-GTF2A1L readthrough) is a protein-coding gene. Diseases associated with STON1-GTF2A1L include trichomoniasis, and polycystic ovary syndrome. An important paralog of this gene is STON2.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the STON1-GTF2A1L gene promoter:
         Sox5   AML1a   HNF-3beta   Meis-1b   HNF-1A   HNF-1   Meis-1a   NF-kappaB1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTON1-GTF2A1L promoter sequence
   Search Chromatin IP Primers for STON1-GTF2A1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STON1-GTF2A1L


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

Entrez Gene cytogenetic band: 2p16.3   Ensembl cytogenetic band:  2p16.3   HGNC cytogenetic band: 2p16.3

STON1-GTF2A1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STON1-GTF2A1L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P048787:  view genomic region     (about GC identifiers)

Start:
48,757,064 bp from pter      End:
49,003,656 bp from pter
Size:
246,593 bases      Orientation:
plus 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/TrEMBL: Q53S48 (See protein sequence)
Recommended Name: Protein STON1-GTF2A1L  
Size: 1182 amino acids; 132083 Da

Explore proteomics data for STON1-GTF2A1L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STON1-GTF2A1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001185522.1  NP_001185523.1  NP_758515.1  

    ENSEMBL proteins: 
     ENSP00000385499   ENSP00000385701   ENSP00000378236   ENSP00000311493   ENSP00000378234  

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    (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):
     IPR028565 MHD
     IPR004855 TFIIA_asu/bsu
     IPR009088 TFIIA_b-brl
     IPR008968 Clathrin_mu_C
     IPR013028 TFIIA_asu_N

    Graphical View of Domain Structure for InterPro Entry Q53S48

    ProtoNet protein and cluster: Q53S48

    1 Blocks protein domain: IPB004855 Transcription factor IIA

    UniProtKB/TrEMBL: Q53S48
    Similarity: Contains MHD (mu homology) domain


    STON1-GTF2A1L 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    STON1-GTF2A1L for ontologies           About GeneDecksing


    Animal Models:
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    miRTarBase miRNAs that target STON1-GTF2A1L:
    hsa-mir-26b-5p (MIRT028961)

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    2 qRT-PCR Assays for microRNAs that regulate STON1-GTF2A1L:
    hsa-miR-590-3p hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidSTON1-GTF2A1L 3' UTR sequence
    Inhib. RNA
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005672transcription factor TFIIA complex ----
    GO:0030131clathrin adaptor complex ----

    STON1-GTF2A1L 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STON1-GTF2A1L
    Interactions:

        Search GeneGlobe Interaction Network for STON1-GTF2A1L

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

    Selected Interacting proteins for STON1-GTF2A1L (ENSP000003114934) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2BENSP000003595314STRING: ENSP00000359531
    SUPT16HENSP000002162974STRING: ENSP00000216297
    SUPT3HENSP000003605154STRING: ENSP00000360515
    BTAF1ENSP000002659904STRING: ENSP00000265990
    DNAJC5ENSP000003541114STRING: ENSP00000354111
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006367transcription initiation from RNA polymerase II promoter ----
    GO:0006886intracellular protein transport ----
    GO:0006897endocytosis ----
    GO:0016192vesicle-mediated transport ----

    STON1-GTF2A1L 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 STON1-GTF2A1L



    (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 STON1-GTF2A1L gene (3 alternative transcripts): 
    NM_001198593.1  NM_001198594.1  NM_172311.2  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405008 ENST00000402114(uc021vhf.1) ENST00000394754(uc002rwp.2)
    ENST00000463040 ENST00000470560 ENST00000309827(uc010yol.2) ENST00000394751

    miRNA
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    Block miRNA regulation of human, mouse, rat STON1-GTF2A1L using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate STON1-GTF2A1L:
    hsa-miR-590-3p hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidSTON1-GTF2A1L 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for STON1-GTF2A1L
    Predesigned siRNA for gene silencing in human, mouse, rat STON1-GTF2A1L
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      QuantiFast Probe-based Assays in human, mouse, rat STON1-GTF2A1L

    Selected AceView cDNA sequences (see all 139):

    CD558013 CA419207 CN480994 AW294274 NM_172311 BU738931 BM676739 AW068983 
    NM_172196 NM_006873 AA496951 AY026319 AA366842 BC025991 BF436701 BP374692 
    AW129964 BF792128 AF255310 BQ639031 AU138011 CR604481 NM_006872 AK023617 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for STON1-GTF2A1L    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                -     -                                                   
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                    -                                                                     


    ECgene alternative splicing isoforms for STON1-GTF2A1L

    (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)
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    STON1-GTF2A1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    STON1-GTF2A1L Expression
    About this image

    STON1-GTF2A1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STON1-GTF2A1L Protein Expression
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    In Situ
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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.

    Orthologs for STON1-GTF2A1L gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves STON16
    Gallus gallus stonin 1 (STON1), mRNA.
    72(a)
    1 → many
    3(7548124-7557605)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    1 → many
    1(255548147-255564441)
    zebrafish
    (Danio rerio)
    Actinopterygii gtf2a1l6
    general transcription factor IIA, 1-like
    39(a)
    1 → many
    13(91414-100201) ENSDARG00000063670
    fruit fly
    (Drosophila melanogaster)
    Insecta stnB6
    stoned B
    12(a)
    1 → many
    X(22382558-22406483)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-416
    Protein UNC-41, isoform a (unc-41) mRNA, complete ...
    9(a)
    1 → many
    V(9966404-9976226) WBGene00006777
            Species with no ortholog for STON1-GTF2A1L

    ENSEMBL Gene Tree for STON1-GTF2A1L (if available)
    TreeFam Gene Tree for STON1-GTF2A1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STON1-GTF2A1L gene
    STON22  GTF2A1L2  GTF2A12  STON12  
    4 SIMAP similar genes for STON1-GTF2A1L using alignment to 1 protein entry:     Q3MIM1_HUMAN:
    ALF    STON1    GTF2A1L    STON2

    STON1-GTF2A1L 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 STON1-GTF2A1L (see all 5616)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874836021,2
    --48622719(+) GGTGGC/TTACCC 1 -- us2k10--------
    rs1168548801,2
    C,F--48622763(+) GACAAA/CGTTTA 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs557672131,2
    C--48622778(+) GTGCAT/CACAGA 1 -- us2k12Minor allele frequency- C:0.21NA 122
    rs744056541,2
    --48622852(+) GTCTCC/TAGTTA 1 -- us2k10--------
    rs1398063571,2
    --48622913(+) AAAGGC/TGGGCT 1 -- us2k10--------
    rs1443072451,2
    C--48622936(+) AAAAA-/GGTTC 
    AATTTGGG
    GGTTC
    1 -- us2k10--------
    rs116877711,2
    C,F,H--48622954(+) GGTTCA/TATTTG 1 -- us2k16Minor allele frequency- T:0.05NS EA NA 522
    rs1415384841,2
    C--48622978(+) GCCTGC/TGGTCA 1 -- us2k10--------
    rs766321551,2
    C,F--48623053(+) TGTGTC/TCTTCT 1 -- us2k11Minor allele frequency- T:0.07EA 120
    rs621351931,2
    C,F--48623095(+) CCTGAC/TTTAGG 1 -- us2k110Minor allele frequency- T:0.42WA NA CSA EA 372

    HapMap Linkage Disequilibrium report for STON1-GTF2A1L (48757064 - 49003656 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for STON1-GTF2A1L (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3660CNV Deletion18987735
    esv2720033CNV Deletion23290073
    esv2678523CNV Deletion23128226
    esv991713CNV Deletion20482838
    esv2668681CNV Deletion23128226
    esv2354047CNV Deletion18987734
    esv2676191CNV Deletion23128226
    esv2631205CNV Deletion19546169
    esv990475CNV Deletion20482838
    esv1496764CNV Deletion17803354

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for STON1-GTF2A1L:    
    About MalaCards
    trichomoniasis    polycystic ovary syndrome


    STON1-GTF2A1L for disorders           About GeneDecksing

    Genetic Association Database (GAD): STON1-GTF2A1L

    Export disorders for STON1-GTF2A1L 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)
    About This Section

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    PubMed articles for STON1-GTF2A1L gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with STON1-GTF2A1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PubMed id 10364255)1, 3, 9 Upadhyaya A.B.... DeJong J. (J. Biol. Chem. 1999)
    2. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. (PubMed id 21151128)1, 4 Chen Z.J....Zhao Y. (Nat. Genet. 2011)
    3. TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene whose expression is up-regulated with other general transcription factors during spermatogenesis in the mouse. (PubMed id 11159353)1, 3 Han S.... DeJong J. (Biol. Reprod. 2001)
    4. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. (PubMed id 22885925)1 Shi Y....Chen Z.J. (Nat. Genet. 2012)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PubMed id 11381094)1 Martina J.A.... Bonifacino J.S. (J. Cell Biol. 2001)
    9. Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating. (PubMed id 11454741)1 Walther K.... Haucke V. (EMBO Rep. 2001)
    10. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (Nat. Biotechnol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 286749 HGNC: 30651 AceView: ALF Ensembl:ENSG00000068781 euGenes: HUgn286749
    ECgene: STON1-GTF2A1L H-InvDB: STON1-GTF2A1L

    (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 STON1-GTF2A1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for STON1-GTF2A1L gene:
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