What is Gene Ontology?
Gene Ontology describes relatedness of gene products associated within four categories (1) Biological Process, (2) Molecular function, (3) Cellular components and (4) KEGG Pathways.
Gene Ontology of PAX8
Biological Process:
Thyroid Gland Development: TG, NKX2-1, FOXE1, SHH
Endocrine system development: TG, NKX2-1, FOXE1, SHH, WT1, FOXO1
Organ development: TG, NKX2-1, FOXE1, SHH, WT1, FOXO1, FOXI1, WNT9B, FOXG1, BCL2, PARP1 EP300, PPARG, RB1, POU3F2
Positive regulation of nucleobase-containing compound metabolic process: TG, NKX2-1, FOXE1, SHH, TSHR, WT1, EP300, FOXO1, PARP1, RXRG, POU3F2
Negative regulation of transcription from RNA polymerase II promoter: FOXE1, NKX2-1, SHH, WT1, FOXO1, PARP1, EP300, RB1, ETs2, PPARG, POU3F2
Endocrine system development: TG, NKX2-1, FOXE1, SHH, WT1, FOXO1
Organ development: TG, NKX2-1, FOXE1, SHH, WT1, FOXO1, FOXI1, WNT9B, FOXG1, BCL2, PARP1 EP300, PPARG, RB1, POU3F2
Positive regulation of nucleobase-containing compound metabolic process: TG, NKX2-1, FOXE1, SHH, TSHR, WT1, EP300, FOXO1, PARP1, RXRG, POU3F2
Negative regulation of transcription from RNA polymerase II promoter: FOXE1, NKX2-1, SHH, WT1, FOXO1, PARP1, EP300, RB1, ETs2, PPARG, POU3F2
The primary biological process of PAX8 involves development of thyroid gland and the endocrine system both are vital for proper individual growth and proper metabolism. Mutations in PAX8 effecting the biological processes of PAX8 directly links to congenital hypothyroidism.
Molecular Function:
Sequence-specific DNA binding:FOXI1, FOXE1, FOXG1, FOXI2,NKX2-1, WT1, FOXO1, BCL2, EP300, RXRG, PPARG, POU3F2, ETS2
RNA polymerase II transcription factor activity, sequence-specific DNA binding: FOXI1, FOXE1, FOXG1, FOXI2,NKX2-1, WT1, EP300, RXRG, PPARG, POU3F2, ETS2
RNA polymerase II transcription factor activity, sequence-specific DNA binding: FOXI1, FOXE1, FOXG1, FOXI2,NKX2-1, WT1, EP300, RXRG, PPARG, POU3F2, ETS2
Primary molecular function of PAX8 relates back to PAX8s' role as a transcription factor. Sequence-specific DNA binding is a crucial component in maintenance of proper gene expression levels of all listed genes above.
Cellular Components:
PAX8 is located and operates exclusively within the nucleus.
KEGG Pathways:
Thyroid cancer: PPARG and RXRG
Thyroid hormone synthesis: TSHR and TG
Pathways in cancer: PPARG, RXRG, FOXO1, WT1, BCL2, SHH, WNT9B, EP300, and RB1
Transcriptional misregulation in cancer: PPARG, RXRG, FOXO1, and WT1
Discussion:
Gene ontology provides biological knowledge of the gene of interest from broad applications to specific biochemical interactions. The incorporation of protein interactions in association with PAX8 creates a road map through the cell and out of into the thyroid gland. PAX8 being a transcription factor is a catalyst in a cascade of pathways for development of thyroid gland and the endocrine system. Gene ontology can be used as tool in determining where in biological, molecular and cellular components disease states begin, and pin point interruption protein-protein interactions.