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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]

CIViC summary for PAX8 Gene

  • PAX8 is one of nine transcription factors within the PAX gene family. It has been observed to be expressed during embryonic development however expression attenuates after development in all but a few tissues. Research has indicated that over-expression of PAX proteins in general are not an initiating event in tumorgenesis however they may facilitate malignant development. PAX8 is expressed in 80-96% of all High-grade serous carcinomas (HGSC) and is commonly used as a marker for the disease. In addition PAX8 has become a useful biomarker for differentiating between mullerian mucinous and non-mullerian tumors. PAX8 has also been associated with neoplasms in the kidney and thyroid.

GeneCards Summary for PAX8 Gene

PAX8 (Paired Box 8) is a Protein Coding gene. Diseases associated with PAX8 include Hypothyroidism, Congenital, Nongoitrous, 2 and Athyreosis. Among its related pathways are Transcriptional misregulation in cancer and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PAX8 Gene

Promoters and enhancers for PAX8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I113278 Promoter 0.7 EPDnew 550.8 +0.0 9 0.1 POLR2A SIN3A EZH2 PAX8 GC02M113274
GH02I113123 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +154.0 153966 3.2 HDAC1 ELF3 PKNOX1 MLX BATF DNMT3B RARA RFX5 ETV6 FOS IL1RN IL36B PSD4 IL1B RNU6-1180P PAX8-AS1 PAX8 IL1F10 IL36G IL1A
GH02I113113 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 +162.2 162186 5.7 EGR1 ETV6 FOS IKZF2 RUNX3 CBFB ZBTB11 ELF1 ZNF592 IKZF1 IL1RN PSD4 IL36B IL1B PAX8-AS1 RNU6-1180P PAX8 IL36G IL1A CBWD2
GH02I113208 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.2 +67.5 67464 5.1 FOXA2 SAP130 MAX RARA ZNF335 ZFHX2 POLR2A EGR2 GATAD2A SOX5 PAX8-AS1 PAX8 PSD4 GC02P113645
GH02I113126 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.4 +149.7 149697 5.1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 PAF1 RXRA IL1RN PSD4 PAX8-AS1 RNU6-1180P PAX8 IL1F10 IL36RN LINC01191 GC02P113568 GC02P113379
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PAX8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAX8 gene promoter:

Genomic Locations for PAX8 Gene

Genomic Locations for PAX8 Gene
62,954 bases
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:
    Recommended name:
    Paired box protein Pax-8
    Protein Accession:
    Secondary Accessions:
    • Q09155
    • Q16337
    • Q16338
    • Q16339
    • Q4ZG35
    • Q96J49

    Protein attributes for PAX8 Gene

    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


neXtProt entry for PAX8 Gene

Post-translational modifications for PAX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PAX8 Gene

Domains & Families for PAX8 Gene

Gene Families for PAX8 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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

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

No data available for UniProtKB/Swiss-Prot for PAX8 Gene

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.

Phenotypes From GWAS Catalog for PAX8 Gene

Gene Ontology (GO) - Molecular Function for PAX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter 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 proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IMP 9590296
GO:0003700 DNA binding transcription factor activity TAS,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

Clone Products

  • Addgene plasmids for PAX8

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAX8 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

(6) Drugs for PAX8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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:

Clone Products

  • Addgene plasmids for PAX8

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

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

Relevant External Links for PAX8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PAX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for PAX8 Gene:


mRNA Expression by UniProt/SwissProt for PAX8 Gene:

Tissue specificity: Expressed in the excretory system, thyroid gland and Wilms tumors.

Evidence on tissue expression from TISSUES for PAX8 Gene

  • Kidney(4.8)
  • Thyroid gland(4.7)
  • Intestine(2.4)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • pelvis
  • rectum
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PAX8: view

Orthologs for PAX8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PAX8 33 34
  • 98.05 (n)
(Monodelphis domestica)
Mammalia PAX8 34
  • 94 (a)
(Bos Taurus)
Mammalia PAX8 33 34
  • 93.56 (n)
(Mus musculus)
Mammalia Pax8 33 16 34
  • 91.41 (n)
(Rattus norvegicus)
Mammalia Pax8 33
  • 91.04 (n)
(Ornithorhynchus anatinus)
Mammalia PAX8 34
  • 83 (a)
(Canis familiaris)
Mammalia PAX8 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pax8 33
  • 73.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Pax-8 33
(Danio rerio)
Actinopterygii pax8 33 34
  • 69.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta sv 35 34
  • 80 (a)
Poxn 35
  • 69 (a)
(Caenorhabditis elegans)
Secernentea egl-38 35 34
  • 72 (a)
K06B9.5 35
  • 72 (a)
K07C11.1 35
  • 65 (a)
pax-2 34
  • 33 (a)
npax-2 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
-- 34
  • 16 (a)
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

Gene Tree for PAX8 (if available)
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 Variation AA Info Type
rs104893655 pathogenic, Thyroid agenesis 113,244,494(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs104893656 pathogenic, Thyroid agenesis, Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] 113,246,826(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104893657 pathogenic, Thyroid agenesis, Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] 113,246,853(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104893658 pathogenic, Thyroid agenesis, Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] 113,246,760(-) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104893659 pathogenic, Thyroid agenesis, Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] 113,246,775(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for PAX8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PAX8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypothyroidism, congenital, nongoitrous, 2
  • chng2
thyroid ectopia
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
congenital hypothyroidism
  • cretinism
- elite association - COSMIC cancer census association via MalaCards
Search PAX8 in MalaCards View complete list of genes associated with diseases


  • 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

Additional Disease Information for PAX8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of clinical endocrinology and metabolism 2010) 3 22 44 58
  2. TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation. (PMID: 19010321) Di Palma T … Zannini M (Experimental cell research 2009) 3 4 22 58
  3. The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family. (PMID: 18829450) Codutti L … Esposito G (The Journal of biological chemistry 2008) 3 4 22 58
  4. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. (PMID: 16763387) Lanzerath K … Grulich-Henn J (Hormone research 2006) 3 22 44 58
  5. 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 (The Journal of clinical endocrinology and metabolism 2001) 3 4 22 58

Products for PAX8 Gene

  • Addgene plasmids for PAX8

Sources for PAX8 Gene

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