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PAX8 Gene

protein-coding   GIFtS: 64
GCID: GC02M113973

Paired Box 8

(Previous name: paired box gene 8)
  See PAX8-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
Paired Box 81 2
Paired Box Gene 81
Paired Box Protein Pax-82
Paired Domain Gene 82

External Ids:    HGNC: 86221   Entrez Gene: 78492   Ensembl: ENSG000001256187   OMIM: 1674155   UniProtKB: Q067103   

Export aliases for PAX8 gene to outside databases

Previous GC identifers: GC02M111180 GC02M111895 GC02M113881 GC02M114070 GC02M113691 GC02M106427


(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 PAX8 Gene:
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family
typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This
nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes.
Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical
follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been
described. (provided by RefSeq, Mar 2010)

GeneCards Summary for PAX8 Gene:
PAX8 (paired box 8) is a protein-coding gene. Diseases associated with PAX8 include endosalpingiosis, and hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia. GO annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX1.

UniProtKB/Swiss-Prot: PAX8_HUMAN, Q06710
Function: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the
thyroid cell type, maintaining the functional differentiation of such cells

Gene Wiki entry for PAX8 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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAX8 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAX8 promoter sequence
   Search Chromatin IP Primers for PAX8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAX8


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

PAX8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX8 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M113973:  view genomic region     (about GC identifiers)

Start:
113,973,574 bp from pter      End:
114,036,527 bp from pter
Size:
62,954 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PAX8_HUMAN, Q06710 (See protein sequence)
Recommended Name: Paired box protein Pax-8  
Size: 450 amino acids; 48218 Da
Subunit: Interacts with WWTR1
Developmental stage: In developing excretory system, during thyroid differentiation and in adult thyroid
1 PDB 3D structure from and Proteopedia for PAX8:
2K27 (3D)    
Secondary accessions: Q09155 Q16337 Q16338 Q16339 Q4ZG35 Q96J49
Alternative splicing: 5 isoforms:  Q06710-1   Q06710-2   Q06710-3   Q06710-4   Q06710-5   

Explore the universe of human proteins at neXtProt for PAX8: NX_Q06710

Explore proteomics data for PAX8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_003457.1  NP_039246.1  NP_039247.1  NP_054698.1  

    ENSEMBL proteins: 
     ENSP00000263335   ENSP00000380768   ENSP00000314750   ENSP00000395498   ENSP00000452547  
     ENSP00000451618   ENSP00000451240   ENSP00000451213   ENSP00000263334  

    PAX8 Human Recombinant Protein Products:

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    Novus Biologicals PAX8 Proteins
    Novus Biologicals PAX8 Lysate
    Sino Biological Recombinant Protein for PAX8
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX8

     
    Search eBioscience for Proteins for PAX8 

     
    antibodies-online proteins for PAX8 (13 products) 

     
    antibodies-online peptides for PAX8

    PAX8 Antibody Products:

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    antibodies-online antibodies for PAX8 (93 products) 

    PAX8 Assay Products:

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    antibodies-online kits for PAX8 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PAX: Paired boxes
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR001523 Paired_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR022130 Pax2_C
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q06710

    ProtoNet protein and cluster: Q06710

    1 Blocks protein domain: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX8_HUMAN, Q06710
    Similarity: Contains 1 paired domain


    Find genes that share domains with PAX8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PAX8_HUMAN, Q06710
    Function: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the
    thyroid cell type, maintaining the functional differentiation of such cells

         Genatlas biochemistry entry for PAX8:
    paired box (DNA binding) containing protein 8,with a truncated homeo domain,expressed in fetal kidney,potential
    modulator of WT1 expression,in developing central nervous system and regulating thyroglobulin gene transcription
    (regulation of thyroid cells),also expressed in adult kidney

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IDA9388203
    GO:0003677DNA binding IMP9590296
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9388203
    GO:0004996thyroid-stimulating hormone receptor activity TAS9590296
    GO:0005515protein binding IPI19010321
         
    Find genes that share ontologies with PAX8           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pax8):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging  nervous system 
     no phenotypic analysis  renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with PAX8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pax8tm1Pgr for PAX8

       genOway: Develop your customized and physiologically relevant rodent model for PAX8

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GTCATGCHTGRCTGS 

    miRNA
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    Block miRNA regulation of human, mouse, rat PAX8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX8 (see all 47):
    hsa-miR-345 hsa-miR-579 hsa-miR-3164 hsa-miR-100* hsa-miR-1321 hsa-miR-330-5p hsa-miR-765 hsa-miR-134
    SwitchGear 3'UTR luciferase reporter plasmidPAX8 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PAX8
    Predesigned siRNA for gene silencing in human, mouse, rat PAX8

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for PAX8 (see all 21)
    OriGene ORF clones in mouse, rat for PAX8
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    Sino Biological Human cDNA Clone for PAX8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX8
    Addgene plasmids for PAX8 

    Cell Line
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    ESI BIO PureStem Progenitor for PAX8: 
    PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX8


    (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
    PAX8_HUMAN, Q06710: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm ISS--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with PAX8           About GenesLikeMe


    (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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    SuperPaths for PAX8 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Thyroid hormone synthesis0.36
    2TSH signaling pathway
    TSH signaling pathway
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4Thyroid cancer
    Thyroid cancer
    5Pathways in cancer
    Pathways in cancer


    Find genes that share SuperPaths with PAX8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PAX8
        Id Signaling Pathway
    TSH signaling pathway



    4 Kegg Pathways  (Kegg details for PAX8):
        Thyroid hormone synthesis
    Pathways in cancer
    Transcriptional misregulation in cancer
    Thyroid cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including PAX8: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAX8

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

    Selected Interacting proteins for PAX8 (Q067101, 3 ENSP000003954984) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001655urogenital system development ISS--
    GO:0001656metanephros development ----
    GO:0001658branching involved in ureteric bud morphogenesis IEP1337742
    GO:0001822kidney development IEP15494458
    GO:0001823mesonephros development ISS--

    Find genes that share ontologies with PAX8           About GenesLikeMe



    (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 PAX8

    9 Novoseek inferred chemical compound relationships for PAX8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iodide 76.4 13 15872358 (2), 16042141 (1), 16584511 (1), 17614769 (1) (see all 11)
    sodium iodide 73.2 2 18202153 (1), 16179407 (1)
    sodium 39.9 10 16042141 (1), 17614769 (1), 19886789 (1), 11573135 (1) (see all 9)
    thyroxine 25.9 1 17082261 (1)
    forskolin 25 1 7559458 (1)
    serine 13.5 2 1337742 (1)
    threonine 11.8 1 16763387 (1)
    ribonucleic acid 10.7 2 9253346 (1), 10946899 (1)
    oligonucleotide 0 2 10807057 (1)



    Find genes that share compounds with PAX8           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PAX8 gene (5 alternative transcripts): 
    NM_003466.3  NM_013952.3  NM_013953.3  NM_013992.3  NM_013951.3  

    Unigene Cluster for PAX8:

    Paired box 8
    Hs.469728  [show with all ESTs]
    Unigene Representative Sequence: NM_003466
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263335 ENST00000397647 ENST00000348715 ENST00000429538(uc010yxt.2 uc010yxu.2 uc002tjm.3 uc002tjn.3)
    ENST00000465084 ENST00000480684 ENST00000497038 ENST00000468980 ENST00000485840
    ENST00000554352 ENST00000467778(uc010fku.1) ENST00000554830 ENST00000263334

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PAX8 (see all 47):
    hsa-miR-345 hsa-miR-579 hsa-miR-3164 hsa-miR-100* hsa-miR-1321 hsa-miR-330-5p hsa-miR-765 hsa-miR-134
    SwitchGear 3'UTR luciferase reporter plasmidPAX8 3' UTR sequence
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    Addgene plasmids for PAX8 
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      QuantiTect SYBR Green Assays in human, mouse, rat PAX8
      QuantiFast Probe-based Assays in human, mouse, rat PAX8

    Additional mRNA sequence: 

    AK096795.1 AK124991.1 AK225538.1 AK292191.1 AK307173.1 AK309154.1 BC001060.2 L19606.1 
    S77904.1 S77905.1 S77906.2 X69699.1 

    17 DOTS entries:

    DT.446907  DT.95178157  DT.100754076  DT.95205705  DT.91752171  DT.91752163  DT.91752168  DT.437469 
    DT.97845517  DT.91752167  DT.75103493  DT.95371718  DT.121006437  DT.95316899  DT.91653574  DT.92018740 
    DT.95318788 

    Selected AceView cDNA sequences (see all 214):

    NM_003466 BU735242 NM_013992 AV656437 AA582378 BE898291 AW513410 AA340862 
    AI691160 CA943832 AA569620 BX113203 AW510426 AI274803 BF593145 AK096795 
    AI521904 BG164921 AI049934 NM_013953 NM_013952 NM_013951 BE777958 BU727914 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PAX8    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c
    SP1:                          -     -     -                           
    SP2:                                -     -                           
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for PAX8

    (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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    PAX8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PAX8 Expression
    About this image


    PAX8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
             mK4
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Intermediate Mesoderm Cells Intermediate Mesoderm
             Mesonephros
             Intermediate mesoderm-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
             Floor plate-like cells
     
     Mesoderm (Gastrulation Derivatives)
             Intermediate Mesoderm Cells Intermediate Mesoderm
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
    PAX8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469728

    UniProtKB/Swiss-Prot: PAX8_HUMAN, Q06710
    Tissue specificity: Expressed in the excretory system, thyroid gland and Wilms tumors

        Pathway & Disease-focused RT2 Profiler PCR Array including PAX8: 
              Telomeres & Telomerase in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat PAX8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX8

    (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 PAX8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax81 , 5 paired box gene 85
    paired box 81
    91.41(n)1
    98.22(a)1
      2 (16.43 cM)5
    185101  NM_011040.41  NP_035170.11 
     244205515 
    African clawed frog
    (Xenopus laevis)
    Amphibia Pax-82 Pax-8 DNA-binding transcription factor 74.95(n)    AF179301.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pax82 paired box gene 8 76.62(n)   60637  AF072549.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sv3 cone cell fate commitment (sensu
    Drosophila) transcription more
    80(a)
    (best of 2)
      102D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea K06B9.53 paired box transcription factor 72(a)
    (best of 3)
      IV(4199863-4204573)   --


    ENSEMBL Gene Tree for PAX8 (if available)
    TreeFam Gene Tree for PAX8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAX8 gene
    PAX12  PAX72  PAX32  PAX52  PAX22  PAX62  PAX92  PAX42  
    7 SIMAP similar genes for PAX8 using alignment to 5 protein entries:     PAX8_HUMAN (see all proteins):
    PAX2    PAX1    PAX6    PAX5    PAX9    Pax9
    PAX3

    Find genes that share paralogs with PAX8           About GenesLikeMe



    (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 PAX8 (see all 1288)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127704
    Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)4--see VAR_0127702 Q P mis40--------
    VAR_0127694
    Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)4--see VAR_0127692 R H mis40--------
    VAR_0127724
    Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)4--see VAR_0127722 L R mis40--------
    VAR_0127714
    Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)4--see VAR_0127712 C Y mis40--------
    rs31889961,2,,4
    C,Fnon-pathogenic1113506706(-) CCGCCT/CTTTTG 6 /L /F /P mis1 syn1 int15Minor allele frequency- C:0.02MN NS NA EU 801
    rs1048936551,2
    Cpathogenic1113515340(-) AGATCC/TGAGAC 8 R * stg10--------
    rs1048936581,2
    Cpathogenic1113517606(-) GATCCG/TTGGCA 8 R L mis10--------
    rs1048936591,2
    Cpathogenic1113517621(-) TGGCTA/GCGTCA 8 Y C mis10--------
    rs1048936601,2
    Cpathogenic1113517631(-) GCGTCA/GGCCAT 8 S G mis10--------
    rs1048936561,2
    Cpathogenic1113517672(-) CCACCA/CGGGTG 8 Q P mis10--------

    HapMap Linkage Disequilibrium report for PAX8 (113973574 - 114036527 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PAX8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720551CNV Deletion23290073
    esv1341118CNV Insertion17803354
    nsv874901CNV Loss21882294
    nsv459008CNV Loss19166990
    nsv508162CNV Loss20534489

    Human Gene Mutation Database (HGMD): PAX8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAX8
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX8

    (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: 167415   
    OMIM disorders: 218700  
    UniProtKB/Swiss-Prot: PAX8_HUMAN, Q06710
  • Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]: A disease characterized by thyroid
    dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland
    can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is
    the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for PAX8:    
    About MalaCards
    endosalpingiosis    hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia    congenital hypothyroidism, nongoitrous 2    nephrogenic adenoma of urinary bladder
    nephrogenic adenoma    neonatal hypothyroidism    adenocarcinoma in situ    thymic epithelial neoplasm
    collecting duct carcinoma    sarcomatoid renal cell carcinoma    benign hereditary chorea    pendred syndrome
    hypothyroidism    thyroid cancer

    8 diseases from the University of Copenhagen DISEASES database for PAX8:
    Thyroid cancer     Hypothyroidism     Endosalpingiosis     Nephrogenic adenoma
    Adenoma     Nephrogenic adenoma of urinary bladder     Carcinoma     Renal cell carcinoma

    Find genes that share disorders with PAX8           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PAX8 gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid ectopic 91.1 20 15301052 (2), 17980011 (2), 15845640 (2), 15531527 (2) (see all 15)
    congenital hypothyroidism 89.3 25 15356023 (3), 11502839 (2), 17980011 (2), 17437516 (2) (see all 16)
    carcinoma anaplastic 72.1 5 18084247 (2), 10401674 (1)
    thyroid neoplasms 71.1 3 10401674 (1), 10769673 (1), 8062273 (1)
    adenoma follicular 70.4 6 19797117 (1), 10769673 (1), 8062273 (1), 15650356 (1) (see all 5)
    thyroid follicular carcinoma 68.8 7 12494461 (1), 12970322 (1), 16609007 (1), 11511919 (1) (see all 7)
    thyroid carcinoma anaplastic 68.4 3 11325833 (1), 15650356 (1), 16029487 (1)
    hypoplasia 67.3 10 11502839 (1), 15356023 (1), 18294054 (1), 10895037 (1) (see all 9)
    thyroid cancer 66.6 7 15650356 (3), 16029487 (2), 10810302 (1), 12351692 (1)
    pendred syndrome 64.8 1 16584511 (1)

    Genatlas disease: PAX8
    congenital hypothyroidism with elevated levels of TSH and thyroid dysgenesis

    Genetic Association Database (GAD): PAX8
    Human Genome Epidemiology (HuGE) Navigator: PAX8 (9 documents)

    Export disorders for PAX8 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 PAX8 gene, integrated from 10 sources (see all 241):
    (articles sorted by number of sources associating them with PAX8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors. (PubMed id 1337742)1, 2, 9 Poleev A.... Plachov D. (Development 1992)
    2. Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties. (PubMed id 8413205)1, 2, 9 Kozmik Z.... Busslinger M. (Mol. Cell. Biol. 1993)
    3. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. (PubMed id 11502839)1, 2, 9 Congdon T....Kopp P. (J. Clin. Endocrinol. Metab. 2001)
    4. Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors. (PubMed id 7737192)1, 2, 9 Poleev A.... Plachov D. (Eur. J. Biochem. 1995)
    5. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. (PubMed id 20157192)1, 4, 9 Narumi S....Hasegawa T. (J. Clin. Endocrinol. Metab. 2010)
    6. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. (PubMed id 16763387)1, 4, 9 Lanzerath K....Grulich-Henn J. (Horm. Res. 2006)
    7. TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation. (PubMed id 19010321)1, 2, 9 Di Palma T.... Zannini M. (Exp. Cell Res. 2009)
    8. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. (PubMed id 9590296)1, 2, 9 Macchia P.E.... Di Lauro R. (Nat. Genet. 1998)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)

    (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: 7849 HGNC: 8622 AceView: PAX8 Ensembl:ENSG00000125618 euGenes: HUgn7849
    ECgene: PAX8 Kegg: 7849 H-InvDB: PAX8

    (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 PAX8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX8 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PAX8[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 PAX8 gene:
    Search GeneIP for patents involving PAX8

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



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