Details for: PAX8

Gene ID: 7849

Symbol: PAX8

Ensembl ID: ENSG00000125618

Description: paired box 8

Associated with

  • Developmental biology
    (R-HSA-1266738)
  • Formation of intermediate mesoderm
    (R-HSA-9761174)
  • Formation of the nephric duct
    (R-HSA-9830364)
  • Gastrulation
    (R-HSA-9758941)
  • Anatomical structure morphogenesis
    (GO:0009653)
  • Branching involved in ureteric bud morphogenesis
    (GO:0001658)
  • Cellular response to gonadotropin stimulus
    (GO:0071371)
  • Central nervous system development
    (GO:0007417)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-templated transcription
    (GO:0006351)
  • Dna binding
    (GO:0003677)
  • Inner ear morphogenesis
    (GO:0042472)
  • Kidney development
    (GO:0001822)
  • Mesenchymal to epithelial transition involved in metanephros morphogenesis
    (GO:0003337)
  • Mesonephros development
    (GO:0001823)
  • Metanephric comma-shaped body morphogenesis
    (GO:0072278)
  • Metanephric distal convoluted tubule development
    (GO:0072221)
  • Metanephric epithelium development
    (GO:0072207)
  • Metanephric nephron tubule formation
    (GO:0072289)
  • Metanephric s-shaped body morphogenesis
    (GO:0072284)
  • Negative regulation of apoptotic process involved in metanephric collecting duct development
    (GO:1900215)
  • Negative regulation of apoptotic process involved in metanephric nephron tubule development
    (GO:1900218)
  • Negative regulation of cardiac muscle cell apoptotic process
    (GO:0010667)
  • Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
    (GO:0072305)
  • Negative regulation of mesenchymal cell apoptotic process involved in metanephros development
    (GO:1900212)
  • Nervous system development
    (GO:0007399)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Otic vesicle development
    (GO:0071599)
  • Positive regulation of branching involved in ureteric bud morphogenesis
    (GO:0090190)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
    (GO:0072108)
  • Positive regulation of metanephric dct cell differentiation
    (GO:2000594)
  • Positive regulation of thyroid hormone generation
    (GO:2000611)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Pronephric field specification
    (GO:0039003)
  • Pronephros development
    (GO:0048793)
  • Protein binding
    (GO:0005515)
  • Regulation of apoptotic process
    (GO:0042981)
  • Regulation of metanephric nephron tubule epithelial cell differentiation
    (GO:0072307)
  • Regulation of thyroid-stimulating hormone secretion
    (GO:2000612)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sensory organ development
    (GO:0007423)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Sulfur compound metabolic process
    (GO:0006790)
  • Thyroid-stimulating hormone receptor activity
    (GO:0004996)
  • Thyroid-stimulating hormone signaling pathway
    (GO:0038194)
  • Thyroid gland development
    (GO:0030878)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Urogenital system development
    (GO:0001655)
  • Ventricular septum development
    (GO:0003281)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 127.6156
    Cell Significance Index: -19.8500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 76.8007
    Cell Significance Index: -19.4800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.0833
    Cell Significance Index: -19.8300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 9.3459
    Cell Significance Index: 74.6200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 8.2249
    Cell Significance Index: 260.1400
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 6.9307
    Cell Significance Index: 80.5700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.6399
    Cell Significance Index: 60.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.4724
    Cell Significance Index: 1350.2200
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.9770
    Cell Significance Index: 7.5700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.9286
    Cell Significance Index: 32.2700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5056
    Cell Significance Index: 34.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5039
    Cell Significance Index: 49.8500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4486
    Cell Significance Index: 405.0600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4268
    Cell Significance Index: 8.3300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.3206
    Cell Significance Index: 4.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2912
    Cell Significance Index: 17.4800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2867
    Cell Significance Index: 31.1800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2594
    Cell Significance Index: 42.1900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2555
    Cell Significance Index: 50.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.2428
    Cell Significance Index: 35.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2137
    Cell Significance Index: 40.6600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1624
    Cell Significance Index: 220.7700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.1441
    Cell Significance Index: 2.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1204
    Cell Significance Index: 3.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1143
    Cell Significance Index: 5.1800
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.1002
    Cell Significance Index: 1.0600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0903
    Cell Significance Index: 2.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0810
    Cell Significance Index: 124.7400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0741
    Cell Significance Index: 2.0700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0723
    Cell Significance Index: 45.9400
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.0557
    Cell Significance Index: 0.5300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0548
    Cell Significance Index: 101.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0537
    Cell Significance Index: 39.3900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0484
    Cell Significance Index: 8.7200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0421
    Cell Significance Index: 2.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0411
    Cell Significance Index: 77.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0361
    Cell Significance Index: 7.2400
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 0.0071
    Cell Significance Index: 0.1000
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.0034
    Cell Significance Index: 0.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0028
    Cell Significance Index: -0.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0041
    Cell Significance Index: -0.4200
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0065
    Cell Significance Index: -0.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0146
    Cell Significance Index: -0.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0180
    Cell Significance Index: -0.4500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0180
    Cell Significance Index: -6.4500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0227
    Cell Significance Index: -14.1500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0238
    Cell Significance Index: -3.0500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0240
    Cell Significance Index: -2.9500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0243
    Cell Significance Index: -18.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0277
    Cell Significance Index: -20.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0367
    Cell Significance Index: -10.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0367
    Cell Significance Index: -20.7200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0382
    Cell Significance Index: -17.3400
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.0415
    Cell Significance Index: -0.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0493
    Cell Significance Index: -2.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0525
    Cell Significance Index: -7.2100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0612
    Cell Significance Index: -1.6700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0651
    Cell Significance Index: -8.4100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0713
    Cell Significance Index: -2.1000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0721
    Cell Significance Index: -1.5100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0748
    Cell Significance Index: -0.6100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0929
    Cell Significance Index: -1.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0987
    Cell Significance Index: -11.5000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1055
    Cell Significance Index: -22.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1057
    Cell Significance Index: -18.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1081
    Cell Significance Index: -12.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1197
    Cell Significance Index: -14.1200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1288
    Cell Significance Index: -10.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1306
    Cell Significance Index: -8.7800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1311
    Cell Significance Index: -2.8400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1327
    Cell Significance Index: -4.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1330
    Cell Significance Index: -5.7800
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.1380
    Cell Significance Index: -1.2600
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.1498
    Cell Significance Index: -1.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1546
    Cell Significance Index: -9.5000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1547
    Cell Significance Index: -3.2100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1775
    Cell Significance Index: -1.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1795
    Cell Significance Index: -13.3800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1800
    Cell Significance Index: -13.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1809
    Cell Significance Index: -18.8400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1846
    Cell Significance Index: -11.3200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1904
    Cell Significance Index: -1.2900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2043
    Cell Significance Index: -9.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2088
    Cell Significance Index: -13.4700
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: -0.2241
    Cell Significance Index: -2.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2297
    Cell Significance Index: -12.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2389
    Cell Significance Index: -3.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2446
    Cell Significance Index: -5.2100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2591
    Cell Significance Index: -13.5000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2757
    Cell Significance Index: -11.3000
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: -0.2821
    Cell Significance Index: -2.8000
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: -0.2898
    Cell Significance Index: -3.1300
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.3069
    Cell Significance Index: -4.3700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.3235
    Cell Significance Index: -5.1900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3239
    Cell Significance Index: -4.9200
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.3306
    Cell Significance Index: -2.8100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3456
    Cell Significance Index: -9.2600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3464
    Cell Significance Index: -5.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3529
    Cell Significance Index: -18.3300
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.3715
    Cell Significance Index: -3.6500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** PAX8 is a DNA-binding transcription factor that belongs to the paired box family of transcription factors. It contains a highly conserved paired box (PBX) domain, which is responsible for its DNA-binding activity. PAX8 also possesses a homeodomain, which is involved in its ability to regulate gene expression. The protein is highly expressed in various tissues, including renal, thyroid, and inner ear tissues, and is also detected in certain types of epithelial cells. PAX8's expression is tightly regulated during development and is involved in the specification of cell fate and differentiation. **Pathways and Functions** PAX8 plays a crucial role in various developmental pathways, including: 1. **Kidney Development**: PAX8 is essential for the development of the kidneys, particularly in the formation of the ureteric bud and the metanephric kidney. 2. **Thyroid Gland Development**: PAX8 is involved in the development of the thyroid gland, including the specification of thyroid follicular cells and the regulation of thyroid hormone production. 3. **Inner Ear Morphogenesis**: PAX8 plays a role in the development of the inner ear, particularly in the formation of the otic vesicle and the regulation of auditory cell differentiation. 4. **Mesenchymal to Epithelial Transition**: PAX8 is involved in the mesenchymal to epithelial transition (MET) process, which is critical for the development of epithelial tissues, including the metanephric kidney and thyroid gland. 5. **Apoptosis Regulation**: PAX8 acts as a negative regulator of apoptosis in certain cell types, including renal and thyroid cells. PAX8's functions are mediated through its ability to regulate gene expression by binding to specific DNA sequences, thereby activating or repressing the transcription of target genes. Its downstream targets include genes involved in cell proliferation, differentiation, and survival, as well as genes involved in the regulation of apoptosis and thyroid hormone production. **Clinical Significance** PAX8's involvement in developmental processes and tissue homeostasis has led to its identification as a key regulator of gene expression in various cell types. Abnormal expression of PAX8 has been implicated in several human diseases, including: 1. **Renal Developmental Disorders**: Mutations in PAX8 have been associated with renal developmental disorders, such as renal agenesis and renal dysplasia. 2. **Thyroid Cancer**: PAX8 is overexpressed in certain types of thyroid cancer, including follicular thyroid carcinoma and papillary thyroid carcinoma. 3. **Inner Ear Disorders**: PAX8 has been implicated in the development of inner ear disorders, including hearing loss and vestibular dysfunction. 4. **Metabolic Disorders**: PAX8 has been linked to metabolic disorders, including thyroid dysfunction and glucose metabolism abnormalities. In conclusion, PAX8 is a highly conserved transcription factor that plays a critical role in various developmental processes and tissue homeostasis. Its involvement in human diseases has highlighted the importance of PAX8 in understanding the pathogenesis of various disorders, and has led to the identification of potential therapeutic targets for the treatment of these diseases.

Genular Protein ID: 1264953744

Symbol: PAX8_HUMAN

Name: Paired box protein Pax-8

UniProtKB Accession Codes:

Q06710 Q09155 Q16337 Q16338 Q16339 Q4ZG35 Q96J49

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 9 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 47 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 2 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1337742

Title: PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors.

PubMed ID: 1337742

DOI: 10.1242/dev.116.3.611

PubMed ID: 8413205

Title: Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties.

PubMed ID: 8413205

DOI: 10.1128/mcb.13.10.6024-6035.1993

PubMed ID: 7737192

Title: Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors.

PubMed ID: 7737192

DOI: 10.1111/j.1432-1033.1995.tb20338.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19010321

Title: TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation.

PubMed ID: 19010321

DOI: 10.1016/j.yexcr.2008.10.016

PubMed ID: 9590296

Title: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

PubMed ID: 9590296

DOI: 10.1038/ng0598-83

PubMed ID: 11232006

Title: Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

PubMed ID: 11232006

DOI: 10.1210/jcem.86.1.7140

PubMed ID: 11502839

Title: A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

PubMed ID: 11502839

DOI: 10.1210/jcem.86.8.7765

PubMed ID: 18829450

Title: The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family.

PubMed ID: 18829450

DOI: 10.1074/jbc.m805717200

Sequence Information:

  • Length: 450
  • Mass: 48218
  • Checksum: 7FDAFA8CEAF20A0E
  • Sequence:
    • MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ LRVSHGCVSK 
ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP TMFAWEIRDR LLAEGVCDND 
TVPSVSSINR IIRTKVQQPF NLPMDSCVAT KSLSPGHTLI PSSAVTPPES PQSDSLGSTY 
SINGLLGIAQ PGSDKRKMDD SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF 
ERQHYPEAYA SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD 
PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS VYGQFTGQAL 
LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY SGNAYGHTPY SSYSEAWRFP 
NSSLLSSPYY YSSTSRPSAP PTTATAFDHL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.