Human Gene PAX8 (uc002tjm.3) Description and Page Index
  Description: Homo sapiens paired box 8 (PAX8), transcript variant PAX8D, mRNA.
RefSeq Summary (NM_013953): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:113,973,574-114,036,498 Size: 62,925 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr2:113,977,669-114,035,971 Size: 58,303 Coding Exon Count: 8 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:113,973,574-114,036,498)mRNA (may differ from genome)Protein (321 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIOMIMPubMedStanford SOURCE
UniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PAX8
CDC HuGE Published Literature: PAX8
Positive Disease Associations: Glucose , hypothyroidism, congenital
Related Studies:
  1. Glucose
    , , . [PubMed 0]
  2. hypothyroidism, congenital
    Lanzerath, K. et al. 2006, Screening for Pax8 Mutations in Patients with Congenital Hypothyroidism in South-West Germany, Horm Res 2006 66(2) 96-100. [PubMed 16763387]
    These findings confirm the contribution of mutations in the Pax8 gene to the etiology of thyroid dysgenesis with a variable penetrance, but also demonstrate the rare overall incidence in CH.

-  MalaCards Disease Associations
  MalaCards Gene Search: PAX8
Diseases sorted by gene-association score: hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia* (1671), athyreosis* (368), thyroid ectopia* (350), differentiated thyroid carcinoma* (247), congenital hypothyroidism (28), hypothyroidism (25), thyroid cancer (24), sarcomatoid renal cell carcinoma (23), neonatal hypothyroidism (17), collecting duct carcinoma (17), endocervical adenocarcinoma (16), nephrogenic adenoma of urinary bladder (16), bladder benign neoplasm (15), mixed type thymoma (15), nephrogenic adenoma (14), thyroid cancer, nonmedullary, 1 (14), adenocarcinoma in situ (12), papillary carcinoma (12), ovarian serous carcinoma (12), combined thymoma (11), rete testis adenoma (11), rete testis neoplasm (10), endosalpingiosis (10), thyroid cancer, anaplastic (9), goiter (9), clear cell hidradenoma (9), childhood endodermal sinus tumor (9), water-clear cell adenoma (9), sclerosing liposarcoma (9), thyroid cancer, nonmedullary, 2 (7), follicular adenoma (7), multinodular goiter (7), pendred syndrome (7), endocervical carcinoma (7), epilepsy, familial temporal lobe, 4 (7), kidney benign neoplasm (6), ovarian brenner tumor (6), neonatal thyrotoxicosis (6), retinal hemangioblastoma (6), urethral diverticulum (6), nephrogenic adenofibroma (6), spindle cell thymoma (6), cervical polyp (6), wilms tumor susceptibility-5 (6), thyroid gland disease (5), renal cell carcinoma, papillary (4), urethra adenocarcinoma (4), urethra clear cell adenocarcinoma (4), deafness, autosomal dominant 10 (4), endometrial cancer (3), renal cell carcinoma (2), endocrine gland cancer (1), malignant ovarian surface epithelial-stromal neoplasm (1), ovary epithelial cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 477.66 RPKM in Thyroid
Total median expression: 634.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.70166-0.468 Picture PostScript Text
3' UTR -978.502613-0.374 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00292 - 'Paired box' domain

SCOP Domains:
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q06710-4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  KC733810 - Homo sapiens paired box 8 transcript variant F (PAX8) mRNA, complete cds.
X69699 - H.sapiens Pax8 mRNA.
BC001060 - Homo sapiens paired box 8, mRNA (cDNA clone MGC:2141 IMAGE:2963877), complete cds.
AK225538 - Homo sapiens mRNA for paired box gene 8 isoform PAX8C variant, clone: KDN01037.
AK292191 - Homo sapiens cDNA FLJ76722 complete cds, highly similar to Homo sapiens paired box gene 8 (PAX8), transcript variant PAX8A, mRNA.
S77904 - Pax (PAX8c)=paired box {alternatively spliced} [human, thyroid, kidney and Wilms' tumors, mRNA, 1451 nt].
S77905 - Pax (PAX8d)=paired box {alternatively spliced} [human, thyroid, kidney and Wilms' tumors, mRNA, 1220 nt].
S77906 - Pax (PAX8e)=paired box {alternatively spliced} [human, thyroid, kidney and Wilms' tumors, mRNA Partial, 1031 nt].
L19606 - Human paired box homeotic protein (PAX8) mRNA, complete cds.
DQ892280 - Synthetic construct clone IMAGE:100004910; FLH184818.01X; RZPDo839C03146D paired box gene 8 (PAX8) gene, encodes complete protein.
KJ892438 - Synthetic construct Homo sapiens clone ccsbBroadEn_01832 PAX8 gene, encodes complete protein.
DQ895480 - Synthetic construct Homo sapiens clone IMAGE:100009940; FLH184814.01L; RZPDo839C03145D paired box gene 8 (PAX8) gene, encodes complete protein.
AB528492 - Synthetic construct DNA, clone: pF1KB0980, Homo sapiens PAX8 gene for paired box 8, without stop codon, in Flexi system.
KU178404 - Homo sapiens paired box 8 isoform 1 (PAX8) mRNA, partial cds.
KU178405 - Homo sapiens paired box 8 isoform 2 (PAX8) mRNA, partial cds, alternatively spliced.
KU178406 - Homo sapiens paired box 8 isoform 3 (PAX8) mRNA, partial cds, alternatively spliced.
AK309154 - Homo sapiens cDNA, FLJ99195.
AK124991 - Homo sapiens cDNA FLJ43001 fis, clone BRTHA2012562.
CR936798 - Homo sapiens mRNA; cDNA DKFZp686A18110 (from clone DKFZp686A18110).
AK096795 - Homo sapiens cDNA FLJ39476 fis, clone PROST2013260.
AK307173 - Homo sapiens cDNA, FLJ97121.
KJ545873 - Homo sapiens clone C-15 PAX8 aberrant transcript, complete sequence.
KJ545876 - Homo sapiens clone C-18 PAX8 aberrant transcript, complete sequence.
KJ545852 - Homo sapiens clone 95-1 PAX8 aberrant transcript, complete sequence.
KJ545853 - Homo sapiens clone 95-2 PAX8 aberrant transcript, complete sequence.
KJ545854 - Homo sapiens clone 95-7 PAX8 aberrant transcript, complete sequence.
KJ545855 - Homo sapiens clone 95-8 PAX8 aberrant transcript, complete sequence.
KJ545856 - Homo sapiens clone 95-32 PAX8 aberrant transcript, complete sequence.
KJ545857 - Homo sapiens clone 95-34 PAX8 aberrant transcript, complete sequence.
KJ545858 - Homo sapiens clone 95-38 PAX8 aberrant transcript, complete sequence.
KJ545859 - Homo sapiens clone 95-41 PAX8 aberrant transcript, complete sequence.
KJ545862 - Homo sapiens clone 100-2 PAX8 aberrant transcript, complete sequence.
KJ545863 - Homo sapiens clone 100-3 PAX8 aberrant transcript, complete sequence.
KJ545865 - Homo sapiens clone 100-11 PAX8 aberrant transcript, complete sequence.
KJ545866 - Homo sapiens clone 100-12 PAX8 aberrant transcript, complete sequence.
KJ545868 - Homo sapiens clone 100-36 PAX8 aberrant transcript, complete sequence.
KJ545871 - Homo sapiens clone C-6 PAX8 aberrant transcript, complete sequence.
KJ545872 - Homo sapiens clone C-10 PAX8 aberrant transcript, complete sequence.
KJ545874 - Homo sapiens clone C-16 PAX8 aberrant transcript, complete sequence.
KJ545878 - Homo sapiens clone S-1 PAX8 aberrant transcript, complete sequence.
KJ545879 - Homo sapiens clone S-2 PAX8 aberrant transcript, complete sequence.
KJ545880 - Homo sapiens clone S-3 PAX8 aberrant transcript, complete sequence.
KJ545881 - Homo sapiens clone S-11 PAX8 aberrant transcript, complete sequence.
KJ545882 - Homo sapiens clone S-12 PAX8 aberrant transcript, complete sequence.
KJ545883 - Homo sapiens clone S-15 PAX8 aberrant transcript, complete sequence.
KJ545884 - Homo sapiens clone S-19 PAX8 aberrant transcript, complete sequence.
KJ545885 - Homo sapiens clone S-21 PAX8 aberrant transcript, complete sequence.
KJ545867 - Homo sapiens clone 100-32 PAX8 aberrant transcript, complete sequence.
KJ545870 - Homo sapiens clone C-5 PAX8 aberrant transcript, complete sequence.
KJ545860 - Homo sapiens clone 95-42 PAX8 aberrant transcript, complete sequence.
KJ545864 - Homo sapiens clone 100-7 PAX8 aberrant transcript, complete sequence.
KJ545861 - Homo sapiens clone 95-44 PAX8 aberrant transcript, complete sequence.
KJ545869 - Homo sapiens clone 100-46 PAX8 aberrant transcript, complete sequence.
KJ545875 - Homo sapiens clone C-17 PAX8 aberrant transcript, complete sequence.
KJ545877 - Homo sapiens clone C-19 PAX8 aberrant transcript, complete sequence.
AK023855 - Homo sapiens cDNA FLJ13793 fis, clone THYRO1000085, highly similar to PAIRED BOX PROTEIN PAX-8, ISOFORMS 8A/8B.
JD026867 - Sequence 7891 from Patent EP1572962.
JD177727 - Sequence 158751 from Patent EP1572962.
JD069350 - Sequence 50374 from Patent EP1572962.
JD453972 - Sequence 434996 from Patent EP1572962.
JD437404 - Sequence 418428 from Patent EP1572962.
JD248011 - Sequence 229035 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05200 - Pathways in cancer
hsa05216 - Thyroid cancer

-  Other Names for This Gene
  Alternate Gene Symbols: NM_013953, NP_039247, Q06710-4
UCSC ID: uc002tjm.3
RefSeq Accession: NM_013953
Protein: Q06710-4, splice isoform of Q06710 CCDS: CCDS42736.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_013953.3
exon count: 10CDS single in 3' UTR: no RNA size: 3755
ORF size: 966CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 2132.00frame shift in genome: no % Coverage: 99.73
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.