Human Gene PAX8 (ENST00000429538.8_7) from GENCODE V47lift37
  Description: paired box 8, transcript variant PAX8A (from RefSeq NM_003466.4)
Gencode Transcript: ENST00000429538.8_7
Gencode Gene: ENSG00000125618.18_13
Transcript (Including UTRs)
   Position: hg19 chr2:113,973,574-114,036,498 Size: 62,925 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr2:113,976,110-114,035,971 Size: 59,862 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:113,973,574-114,036,498)mRNA (may differ from genome)Protein (450 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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 -73.90166-0.445 Picture PostScript Text
3' UTR -907.102536-0.358 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.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  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.
JD032028 - Sequence 13052 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.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024R4X3, ENST00000429538.1, ENST00000429538.2, ENST00000429538.3, ENST00000429538.4, ENST00000429538.5, ENST00000429538.6, ENST00000429538.7, NM_003466, PAX8 , R9W7C9, R9W7C9_HUMAN, uc319ykx.1, uc319ykx.2
UCSC ID: ENST00000429538.8_7
RefSeq Accession: NM_003466.4

-  Gene Model Information
  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.