PAX8 Gene

Aliases
for PAX8 gene

Previous GC identifers: GC02M111180 GC02M111895 GC02M113881 GC02M114070 GC02M113691 GC02M106427

Summaries
for PAX8 gene

Genomic Views
for PAX8 gene

RefSeq DNA sequence:

NC_000002.11  NC_018913.1  NT_022135.16  

SwitchGear Promoter luciferase reporter plasmid: PAX8 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAX8

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


GeneLoc information about chromosome 2         GeneLoc Exon Structure

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

Proteins
for PAX8 gene

1 PDB 3D structure from and Proteopedia for PAX8:

2K27 (3D)    

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

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: PAX8 OriGene Protein Over-expression Lysate (see all 5): PAX8 OriGene Custom Protein Services for PAX8
	GenScript Custom Purified and Recombinant Proteins Services for PAX8
	Novus Biologicals PAX8 Proteins Novus Biologicals PAX8 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PAX8

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PAX8
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for PAX8
	OriGene Antibodies (see all 2): PAX8 OriGene Custom Antibody Services for PAX8
	GenScript Custom Superior Antibodies Services for PAX8
	Novus Biologicals PAX8 Antibodies
	Abcam antibodies for PAX8
	Uscn Antibodies for PAX8
	ThermoFisher Antibodies for PAX8

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PAX8
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PAX8

Protein Domains /
Families
for PAX8 gene

ProtoNet protein and cluster: Q06710

Function
for PAX8 gene

     Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

(inferred from 4 alleles) (MGI details for Pax8)

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PAX8

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX8
		8/47 QIAGEN miScript miRNA 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 plasmid: PAX8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX8 (see all 7) OriGene shRNA RFP: PAX8 OriGene siRNA: PAX8
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX8
		Sirion Biotech Custom design and validation of potent shRNA sequences against PAX8

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PAX8
			Sirion Biotech Customized adenovirus for overexpression of PAX8  Sirion Biotech Customized adenovirus for potent knockdown of PAX8

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAX8 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PAX8 (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): PAX8 (NM_013953)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX8
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX8

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PAX8
		LifeMap BioReagents: cell line associated with PAX8: PureStem ES-209, Meso-prx/latp Progenitor
		Sirion Biotech Customized stable knockdown cell line services for PAX8  Sirion Biotech Customized inducible knockdown cell line services for PAX8 Sirion Biotech Customized stable overexpressing cell line services for PAX8 Sirion Biotech Customized inducible overexpressing cell line services for PAX8

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX8

Pathways & Interactions
for PAX8 gene

	Super-pathway	contained gene-specific pathways
1	TSH signaling pathway	TSH signaling pathway 1.00
2	Pathways in cancer	Pathways in cancer 1.00
3	Id Signaling Pathway	Id Signaling Pathway 1.00
4	Maintenance of PPARG Expression in Differentiated Adipocytes	Thyroid cancer 0.03

2 BioSystems Pathways for PAX8

	TSH signaling pathway
	Id Signaling Pathway

2         Kegg Pathways  (Kegg details for PAX8)

	Pathways in cancer
	Thyroid cancer

Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

Drugs & Compounds
for PAX8 gene

Transcripts
for PAX8 gene

Expression
for PAX8 gene

PAX8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

PAX8 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14)
	Tissue Anatomical Compartment Cell			Category (developmental path)
	Intermediate MesodermIntermediate MesodermIntermediate Mesoderm Cells			Mesoderm
	KidneyRenal VesicleDistal Renal Vesicle Cells			Kidney
	KidneyRenal VesicleProximal Renal Vesicle Cells			Kidney
	KidneyS-shaped Body Distal SegmentS-shaped Body Distal Cells			Kidney
	KidneyS-shaped Body Medial SegmentS-shaped Body Medial Cells			Kidney
	KidneyS-shaped Body Proximal SegmentS-shaped Body Proximal Cells			Kidney
	Neural EctodermNeural PlateIsthmus Cells			Neural Ectoderm
	KidneyLoop of HenleLoop of Henle Cells			Kidney
	Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor Cells			Spinal Cord
	Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor Cells			Motor Neurons
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 5 LifeMap Cells
	Name			Category
	PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)			Intermediate Mesoderm, Kidney
	mK4 (Cell line)			Kidney
	mK3 (Cell line)			Kidney
	PureStem™ progenitor E68 (Embryonic Progenitor Cell)
	Nkx2-1 GFP+ cells (Efficient derivation...)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PAX8 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PAX8
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAX8
		QIAGEN 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
for PAX8 gene

Paralogs
for PAX8 gene

Paralogs for PAX8 gene

PAX5²  PAX2²  PAX9²  PAX1²  PAX7²  PAX3²  PAX6²  PAX4²  

7 SIMAP similar genes for PAX8 using alignment to 5 protein entries:     PAX8_HUMAN (see all proteins):

PAX2    PAX1    PAX5    PAX6    PAX9    Pax9

PAX3

PAX8 for paralogs           About GeneDecksing

Genomic Variants
for PAX8 gene

10/1110 NCBI SNPs in PAX8 are shown (see all 1110)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs31889961,2	C,F	non-pathogenic	106897847(-)	CCGCCT/CTTTTG	6	/L /F /P	mis1 int1 syn1		5		MN NS NA EU	801
rs1048936571,2	C	pathogenic	106886268(-)	GGTCCA/GCCAGC	8	H R	mis1		0	--	--	--	--
rs1048936561,2	C	pathogenic	106886295(-)	CCACCA/CGGGTG	8	Q P	mis1		0	--	--	--	--
rs1048936601,2	C	pathogenic	106886336(-)	GCGTCA/GGCCAT	8	S G	mis1		0	--	--	--	--
rs1048936581,2	C	pathogenic	106886361(-)	GATCCG/TTGGCA	8	R L	mis1		0	--	--	--	--
rs1048936551,2	C	pathogenic	106888631(-)	AGATCC/TGAGAC	8	R *	stg1		0	--	--	--	--
rs126114741,2	C,H	--	106427197(+)	CTCCCC/TTGCAC	4	--	ds5001		0	--	--	--	--
rs1114361871,2	C	--	106427342(+)	TGCGTC/-CCCCC	4	--	ds5001		1		CSA	2
rs356069971,2	C,F	--	106427390(+)	GCCGGG/AGCACG	4	--	ds5001		5		WA NA CSA	244
rs768945961,2		--	106427436(+)	CCTTAT/CTTTCT	4	--	ds5001		2		CSA WA	120

HapMap Linkage Disequilibrium report for PAX8 (113973574 - 114036527 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for PAX8: --
Human Gene Mutation Database (HGMD): PAX8

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PAX8

DNA2.0 Custom Variant and Variant Library Synthesis for PAX8

Disorders / Diseases
for PAX8 gene

20/41 diseases for PAX8

10/32 Novoseek disease relationships for PAX8 gene (see all 32)    About this table

Publications
for PAX8 gene

PubMed articles for PAX8 gene, integrated from 9 sources (see all 222): (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. (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. (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. (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. (1995)
5. 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. (2009)
6. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. (PubMed id 9590296)^{1, 2, 9} Macchia P.E.... Di Lauro R. (1998)
7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
9. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. (PubMed id 11232006)^{1, 2} Vilain C.... Vassart G. (2001)
10. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. (PubMed id 7981748)^{1, 3} Stapleton P.... Busslinger M. (1993)

External Searches for PAX8 gene

Genome Databases showing PAX8 gene

Other Databases showing PAX8 gene

Specialized Databases showing PAX8 gene

Products
for PAX8 gene