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ENSG00000258947 Gene

protein-coding   GIFtS: 20
GCID: GC16P090000          (predicted)

ENSG00000258947


  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
TUBB43
Tubulin Beta-4 Chain3
Tubulin Beta-III3

External Ids:    Ensembl: ENSG000002589477   UniProtKB: Q135093   

Export aliases for ENSG00000258947 gene to outside databases

Previous GC identifers: GC16P089979 GC16P089992 GC16P089997


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000258947 Gene:
ENSG00000258947 is a protein-coding gene. Diseases associated with ENSG00000258947 include cortical dysplasia, complex, with other brain malformations, and corpus callosum agenesis. An important paralog of this gene is LOC260334.

UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site
on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper
axon guidance and mantainance

summary for ENSG00000258947 Gene:
Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in
turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized, at one end alpha-subunits
are exposed (-) and at the other beta-subunits are exposed (+). Microtubules act as a scaffold to determine
cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires
motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end
of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the
spindle fibers for separating chromosomes during mitosis.




(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:
   Search for regulatory transcription factor binding sites for ENSG00000258947
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ENSG00000258947 promoter sequence
   Search Chromatin IP Primers for ENSG00000258947

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000258947


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

Ensembl cytogenetic band:  16q24.3   

ENSG00000258947 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENSG00000258947 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P090000:  view genomic region     (about GC identifiers)

Start:
89,987,800 bp from pter      End:
90,005,169 bp from pter
Size:
17,370 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/Swiss-Prot: TBB3_HUMAN, Q13509 (See protein sequence)
Recommended Name: Tubulin beta-3 chain  
Size: 450 amino acids; 50433 Da
Subunit: Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer
diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form
protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule
plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different
protofilament numbers can be found in some organisms and specialized cells
Secondary accessions: Q9BTZ0 Q9BW10

Explore the universe of human proteins at neXtProt for ENSG00000258947: NX_Q13509

Explore proteomics data for ENSG00000258947 at MOPED

Post-translational modifications: 

  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate
    residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not
    polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin
    incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles,
    axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and
    lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such
    modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable)1
  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This
    phosphorylation inhibits tubulin incorporation into microtubules1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000258947 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000450538   ENSP00000451617   ENSP00000452166   ENSP00000320295   ENSP00000452001  
     ENSP00000451378   ENSP00000451985   ENSP00000451465   ENSP00000452554   ENSP00000450822  
     ENSP00000451276   ENSP00000450765   ENSP00000302777  
    Reactome Protein details: Q13509

    ENSG00000258947 Human Recombinant Protein Products:

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    ENSG00000258947 Antibody Products:

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    ENSG00000258947 Assay Products:

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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):
     IPR002453 Beta_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR008280 Tub_FtsZ_C

    Graphical View of Domain Structure for InterPro Entry Q13509

    ProtoNet protein and cluster: Q13509

    1 Blocks protein domain: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    Domain: The highly acidic C-terminal region may bind cations such as calcium
    Similarity: Belongs to the tubulin family


    ENSG00000258947 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: TBB3_HUMAN, Q13509
    Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site
    on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper
    axon guidance and mantainance

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005200structural constituent of cytoskeleton ----
    GO:0005515protein binding ----
    GO:0005525GTP binding ----
    GO:0042277peptide binding ----
         
    ENSG00000258947 for ontologies           About GeneDecksing


    Animal Models:
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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 UniProtKB/Swiss-Prot
    TBB3_HUMAN, Q13509: Cytoplasm, cytoskeleton

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005874microtubule ----
    GO:0005886plasma membrane ----
    GO:0015630microtubule cytoskeleton ----
    GO:0030424axon ----

    ENSG00000258947 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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    Pathways by sourceSee SuperPaths
    Show all pathways


    Selected Reactome Pathways for ENSG00000258947 (see all 13)
        Resolution of Sister Chromatid Cohesion
    Prefoldin mediated transfer of substrate to CCT/TriC
    Mitotic Prometaphase
    Translocation of GLUT4 to the plasma membrane
    Recruitment of NuMA to mitotic centrosomes



    ENSG00000258947 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000258947
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000258947

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

    Selected Interacting proteins for ENSG00000258947 (Q135091, 2, 3 ENSP000003202954) via UniProtKB, MINT, STRING, and/or I2D (see all 895)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding ----
    GO:0007017microtubule-based process ----
    GO:0007067mitosis ----
    GO:0007411axon guidance ----

    ENSG00000258947 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 

    Compounds for ENSG00000258947 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Vinorelbine ditartrateSelective mitotic microtubule antagonist[125317-39-7]
    DocetaxelMicrotubule stabilizer[114977-28-5]
    Vinblastine sulfateDisrupts microtubules[143-67-9]
    ColchicineInhibitor of tubulin[64-86-8]
    Epothilone BMicrotubule stabilization agent; promotes tubulin polymerization[152044-54-7]



    (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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    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555810 ENST00000554444(uc010ciz.1) ENST00000556565 ENST00000315491(uc002fph.2)
    ENST00000553656 ENST00000556536 ENST00000554116 ENST00000554927 ENST00000557262(uc010cja.2)
    ENST00000557490 ENST00000555576 ENST00000554336 ENST00000555609 ENST00000553967
    ENST00000304984(uc002fpj.1)
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    GeneLoc Exon Structure


    (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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    ENSG00000258947 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ENSG00000258947 Expression
    About this image

    ENSG00000258947 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000258947 Protein Expression

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    Tissue specificity: Expression is primarily restricted to central and peripheral nervous system. Greatly increased
    expression in most cancerous tissues

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ENSG00000258947

    (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 chordates.

    Orthologs for ENSG00000258947 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii FP102463.16
    Uncharacterized protein
    82(a)
    1 → many
    2(1691997-1695667) ENSDARG00000086257
            Species with no ortholog for ENSG00000258947

    ENSEMBL Gene Tree for ENSG00000258947 (if available)
    TreeFam Gene Tree for ENSG00000258947 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ENSG00000258947 gene
    LOC2603342  TUBB8P72  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  
    TUBE12  TUBB62  TUBB2A2  TUBB12  

    ENSG00000258947 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ENSG00000258947
    PGOHUM00000260185


    (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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    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ENSG00000258947
    DNA2.0 Custom Variant and Variant Library Synthesis for ENSG00000258947

    (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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    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
  • Congenital fibrosis of extraocular muscles 3A (CFEOM3A) [MIM:600638]: A congenital ocular motility
    disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or
    trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward
    tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal
    dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their
    oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic
    position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and
    compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular
    phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal
    ganglia dysmorphism, facial weakness, polyneuropathy. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]: A disorder of
    aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental
    retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical
    development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin
    corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for ENSG00000258947:    
    About MalaCards
    cortical dysplasia, complex, with other brain malformations    corpus callosum agenesis    amblyopia    strabismus
    polymicrogyria    refractive error    cutaneous malignant melanoma    hypotonia
    ophthalmoplegia    polyneuropathy    spasticity    melanoma
    mental retardation    multiple myeloma    myeloma    neuronitis
    prostatitis


    ENSG00000258947 for disorders           About GeneDecksing


    Export disorders for ENSG00000258947 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 ENSG00000258947 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ENSG00000258947)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. (PubMed id 20829227)2 Poirier K.... Chelly J. (Hum. Mol. Genet. 2010)
    2. Tumoral and tissue-specific expression of the major human beta- tubulin isotypes. (PubMed id 20191564)2 Leandro-Garcia L.J....Rodriguez-Antona C. (Cytoskeleton 2010)
    3. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PubMed id 20074521)2 Tischfield M.A.... Engle E.C. (Cell 2010)
    4. Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation. (PubMed id 19524510)2 Rogowski K....Janke C. (Cell 2009)
    5. Microtubule regulation in mitosis: tubulin phosphorylation by the cyclin-dependent kinase Cdk1. (PubMed id 16371510)2 Fourest-Lieuvin A.... Job D. (Mol. Biol. Cell 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Class III beta-tubulin isotype: a key cytoskeletal protein at the crossroads of developmental neurobiology and tumor neuropathology. (PubMed id 14736079)2 Katsetos C.D.... Mork S.J. (J. Child Neurol. 2003)
    8. Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents. (PubMed id 9473684)2 Ranganathan S.... Hudes G.R. (Biochim. Biophys. Acta 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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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    Ensembl:ENSG00000258947

    (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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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000258947 gene:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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