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Aliases for PAX8 Gene

Aliases for PAX8 Gene

  • Paired Box 8 2 3 5
  • Paired Box Gene 8 2

External Ids for PAX8 Gene

Previous GeneCards Identifiers for PAX8 Gene

  • GC02M111180
  • GC02M111895
  • GC02M113881
  • GC02M114070
  • GC02M113691
  • GC02M113973
  • GC02M106427

Summaries for PAX8 Gene

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 Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia and Athyreosis. Among its related pathways are Pathways in cancer and Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is PAX5.

UniProtKB/Swiss-Prot for PAX8 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX8 Gene

Genomics for PAX8 Gene

Regulatory Elements for PAX8 Gene

Enhancers for PAX8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F113216 0.8 Ensembl ENCODE 17.4 +59.9 59890 4.9 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 FOS PAF1 PAX8-AS1 PSD4 PAX8 ENSG00000244063 RNU6-1180P GC02M113274
GH02F113208 0.8 Ensembl ENCODE 17.2 +67.5 67464 5.1 ELF3 TBP ARID4B RAD21 RARA CREM THAP11 EGR2 MIXL1 PAF1 PAX8-AS1 PAX8 PSD4 GC02P113205
GH02F113309 0.7 Ensembl ENCODE 12.5 -31.0 -31004 1.4 LOC101927400 PAX8 PAX8-AS1 RNU6-1180P PSD4
GH02F113368 0.3 FANTOM5 12.1 -89.9 -89893 0.2 PAX8 PAX8-AS1 RNU6-1180P IL1RN IL1F10 GC02P113352 IGKV1OR2-108
GH02F113370 0.6 Ensembl ENCODE 12.1 -91.6 -91648 0.4 GATAD2A ZNF263 ELF3 CTCF ZNF654 HLF NRF1 ARID4B TRIM22 REST PAX8 PAX8-AS1 RNU6-1180P IL1RN GC02P113352 IGKV1OR2-108
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PAX8 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAX8 Gene

Chromosome:
2
Start:
113,215,997 bp from pter
End:
113,278,950 bp from pter
Size:
62,954 bases
Orientation:
Minus strand

Genomic View for PAX8 Gene

Genes around PAX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX8 Gene

Proteins for PAX8 Gene

  • Protein details for PAX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06710-PAX8_HUMAN
    Recommended name:
    Paired box protein Pax-8
    Protein Accession:
    Q06710
    Secondary Accessions:
    • Q09155
    • Q16337
    • Q16338
    • Q16339
    • Q4ZG35
    • Q96J49

    Protein attributes for PAX8 Gene

    Size:
    450 amino acids
    Molecular mass:
    48218 Da
    Quaternary structure:
    • Interacts with WWTR1.

    Three dimensional structures from OCA and Proteopedia for PAX8 Gene

    Alternative splice isoforms for PAX8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX8 Gene

Post-translational modifications for PAX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAX8 (PAX8)
  • Abcam antibodies for PAX8

No data available for DME Specific Peptides for PAX8 Gene

Domains & Families for PAX8 Gene

Protein Domains for PAX8 Gene

Suggested Antigen Peptide Sequences for PAX8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06710

UniProtKB/Swiss-Prot:

PAX8_HUMAN :
  • Contains 1 paired domain.
Domain:
  • Contains 1 paired domain.
genes like me logo Genes that share domains with PAX8: view

Function for PAX8 Gene

Molecular function for PAX8 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PAX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 9388203
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IMP 9590296
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 9388203
genes like me logo Genes that share ontologies with PAX8: view
genes like me logo Genes that share phenotypes with PAX8: view

Human Phenotype Ontology for PAX8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX8 Gene

MGI Knock Outs for PAX8:

Animal Model Products

Targeted motifs for PAX8 Gene
HOMER Transcription Factor Regulatory Elements motif PAX8
  • Consensus sequence: GTCATGCHTGRCTGS Submotif: canonical Cell Type: Thyroid GEO ID: GSE26938

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PAX8 Gene

Localization for PAX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAX8 Gene COMPARTMENTS Subcellular localization image for PAX8 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PAX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9388203
GO:0005654 nucleoplasm IEA,ISS --
genes like me logo Genes that share ontologies with PAX8: view

Pathways & Interactions for PAX8 Gene

genes like me logo Genes that share pathways with PAX8: view

Pathways by source for PAX8 Gene

SIGNOR curated interactions for PAX8 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PAX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001655 urogenital system development IEA,ISS --
GO:0001656 metanephros development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEP 1337742
GO:0001822 kidney development IEP 15494458
GO:0001823 mesonephros development IEA,ISS --
genes like me logo Genes that share ontologies with PAX8: view

Drugs & Compounds for PAX8 Gene

(4) Drugs for PAX8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for PAX8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAX8: view

Transcripts for PAX8 Gene

Unigene Clusters for PAX8 Gene

Paired box 8:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAX8 Gene

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

Relevant External Links for PAX8 Gene

GeneLoc Exon Structure for
PAX8
ECgene alternative splicing isoforms for
PAX8

Expression for PAX8 Gene

mRNA expression in normal human tissues for PAX8 Gene

mRNA differential expression in normal tissues according to GTEx for PAX8 Gene

This gene is overexpressed in Thyroid (x32.5) and Kidney - Cortex (x14.9).

Protein differential expression in normal tissues from HIPED for PAX8 Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PAX8 Gene



Protein tissue co-expression partners for PAX8 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAX8 Gene:

PAX8

SOURCE GeneReport for Unigene cluster for PAX8 Gene:

Hs.469728

mRNA Expression by UniProt/SwissProt for PAX8 Gene:

Q06710-PAX8_HUMAN
Tissue specificity: Expressed in the excretory system, thyroid gland and Wilms tumors.
genes like me logo Genes that share expression patterns with PAX8: view

Primer Products

Orthologs for PAX8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAX8 34 35
  • 98.05 (n)
oppossum
(Monodelphis domestica)
Mammalia PAX8 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAX8 34 35
  • 93.56 (n)
mouse
(Mus musculus)
Mammalia Pax8 34 16 35
  • 91.41 (n)
rat
(Rattus norvegicus)
Mammalia Pax8 34
  • 91.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAX8 35
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAX8 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pax8 34
  • 73.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Pax-8 34
zebrafish
(Danio rerio)
Actinopterygii pax8 34 35
  • 69.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta sv 36 35
  • 80 (a)
Poxn 36
  • 69 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-38 36 35
  • 72 (a)
K06B9.5 36
  • 72 (a)
K07C11.1 36
  • 65 (a)
pax-2 35
  • 33 (a)
ManyToMany
npax-2 35
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
Species where no ortholog for PAX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX8 Gene

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

Paralogs for PAX8 Gene

Paralogs for PAX8 Gene

(7) SIMAP similar genes for PAX8 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PAX8: view

Variants for PAX8 Gene

Sequence variations from dbSNP and Humsavar for PAX8 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893656 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700], Pathogenic 113,246,826(-) CCACC(A/C)GGGTG intron-variant, nc-transcript-variant, reference, missense
rs104893657 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700], Pathogenic 113,246,853(-) GGTCC(A/G)CCAGC intron-variant, nc-transcript-variant, reference, missense
rs104893658 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700], Pathogenic 113,246,760(-) GATCC(G/T)TGGCA intron-variant, nc-transcript-variant, reference, missense
rs104893659 Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700], Pathogenic 113,246,775(-) TGGCT(A/G)CGTCA intron-variant, nc-transcript-variant, reference, missense
rs104893655 Pathogenic 113,244,494(-) AGATC(C/T)GAGAC intron-variant, nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for PAX8 Gene

Variant ID Type Subtype PubMed ID
esv1341118 CNV insertion 17803354
esv2720551 CNV deletion 23290073
esv3584020 CNV loss 25503493
esv3592015 CNV gain 21293372
esv3592016 CNV gain 21293372
nsv1142279 CNV tandem duplication 24896259
nsv459008 CNV loss 19166990
nsv508162 CNV deletion 20534489
nsv582711 CNV loss 21841781
nsv582712 CNV loss 21841781
nsv582713 CNV loss 21841781
nsv998204 CNV loss 25217958

Variation tolerance for PAX8 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAX8 Gene

Human Gene Mutation Database (HGMD)
PAX8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX8 Gene

Disorders for PAX8 Gene

MalaCards: The human disease database

(48) MalaCards diseases for PAX8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
  • hypothyroidism, congenital, nongoitrous, 2
athyreosis
thyroid ectopia
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
thyroid cancer
  • malignant neoplasm of thyroid gland
- elite association - COSMIC cancer census association via MalaCards
Search PAX8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX8_HUMAN
  • 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. {ECO:0000269 PubMed:11232006, ECO:0000269 PubMed:11502839, ECO:0000269 PubMed:9590296}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PAX8 Gene

congenital hypothyroidism with elevated levels of TSH and thyroid dysgenesis

Relevant External Links for PAX8

Genetic Association Database (GAD)
PAX8
Human Genome Epidemiology (HuGE) Navigator
PAX8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAX8
genes like me logo Genes that share disorders with PAX8: view

Publications for PAX8 Gene

  1. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. (PMID: 20157192) Narumi S. … Hasegawa T. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  2. TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation. (PMID: 19010321) Di Palma T. … Zannini M. (Exp. Cell Res. 2009) 3 4 22 64
  3. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. (PMID: 16763387) Lanzerath K. … Grulich-Henn J. (Horm. Res. 2006) 3 22 46 64
  4. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. (PMID: 11502839) Congdon T. … Kopp P. (J. Clin. Endocrinol. Metab. 2001) 3 4 22 64
  5. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. (PMID: 9590296) Macchia P.E. … Di Lauro R. (Nat. Genet. 1998) 3 4 22 64

Products for PAX8 Gene

Sources for PAX8 Gene

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