PAX8
paired box 8 | PAX-8

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]

Biological processes 80 terms
DNA binding (GO:0003677)DNA binding (GO:0003677)DNA binding (GO:0003677)DNA-binding transcription factor activity (GO:0003700)DNA-binding transcription factor activity (GO:0003700)DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981)DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981)DNA-templated transcription (GO:0006351)RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978)RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978)S-shaped body morphogenesis (GO:0072050)anatomical structure morphogenesis (GO:0009653)branching involved in ureteric bud morphogenesis (GO:0001658)cell differentiation (GO:0030154)cellular response to gonadotropin stimulus (GO:0071371)central nervous system development (GO:0007417)central nervous system development (GO:0007417)chromatin (GO:0000785)inner ear morphogenesis (GO:0042472)inner ear morphogenesis (GO:0042472)kidney development (GO:0001822)kidney epithelium development (GO:0072073)mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)mesonephric tubule development (GO:0072164)mesonephros development (GO:0001823)mesonephros development (GO:0001823)metanephric S-shaped body morphogenesis (GO:0072284)metanephric collecting duct development (GO:0072205)metanephric collecting duct development (GO:0072205)metanephric comma-shaped body morphogenesis (GO:0072278)metanephric distal convoluted tubule development (GO:0072221)metanephric distal convoluted tubule development (GO:0072221)metanephric epithelium development (GO:0072207)metanephric nephron tubule development (GO:0072234)metanephric nephron tubule development (GO:0072234)metanephric nephron tubule formation (GO:0072289)metanephric nephron tubule formation (GO:0072289)metanephros development (GO:0001656)metanephros development (GO:0001656)negative regulation of cardiac muscle cell apoptotic process (GO:0010667)nervous system development (GO:0007399)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)otic vesicle development (GO:0071599)positive regulation of DNA-templated transcription (GO:0045893)positive regulation of DNA-templated transcription (GO:0045893)positive regulation of DNA-templated transcription (GO:0045893)positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)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 metanephric DCT cell differentiation (GO:2000594)positive regulation of thyroid hormone generation (GO:2000611)positive regulation of thyroid hormone generation (GO:2000611)positive regulation of transcription by RNA polymerase II (GO:0045944)pronephric field specification (GO:0039003)pronephric field specification (GO:0039003)pronephros development (GO:0048793)pronephros development (GO:0048793)protein binding (GO:0005515)regulation of DNA-templated transcription (GO:0006355)regulation of apoptotic process (GO:0042981)regulation of apoptotic process (GO:0042981)regulation of thyroid-stimulating hormone secretion (GO:2000612)regulation of transcription by RNA polymerase II (GO:0006357)sensory organ development (GO:0007423)sequence-specific double-stranded DNA binding (GO:1990837)thyroid gland development (GO:0030878)thyroid gland development (GO:0030878)thyroid-stimulating hormone receptor activity (GO:0004996)thyroid-stimulating hormone signaling pathway (GO:0038194)transcription cis-regulatory region binding (GO:0000976)transcription cis-regulatory region binding (GO:0000976)ureteric bud morphogenesis (GO:0060675)ureteric bud morphogenesis (GO:0060675)urogenital system development (GO:0001655)urogenital system development (GO:0001655)ventricular septum development (GO:0003281)
Expression (TPM)
PAX8 — as a Regulated Gene

TFs regulating PAX8 0 TFs

Transcription factors with Perturb-seq knockdown data for PAX8. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PAX8 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to PAX8

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PAX8, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr2:113,156,906–113,158,052 78.0 kb Distal (>10kb) Multiome 573
chr2:113,198,565–113,199,598 36.3 kb Distal (>10kb) Multiome 775
chr2:113,203,959–113,204,456 31.3 kb Distal (>10kb) Multiome 490
chr2:113,235,144–113,235,881 76 bp At TSS Multiome 345
chr2:113,273,066–113,273,507 4.9 kb Proximal (<10kb) 127
chr2:113,277,015–113,278,892 43.4 kb Distal (>10kb) Multiome 169
chr2:113,355,399–113,356,493 120.4 kb Distal (>10kb) Multiome 70

Genome Browser

Genomic view of the PAX8 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr2:113,146,906 – 113,366,493
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq