Gene table of PAX8 : paired box 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PAX8	OMIM link	Number of associated genes	genes
PS275200	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	PAX8, THRA, NKX2-5, TSHB, TSHR

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Annotation of the gene PAX8

Associated genes in ENSEMBL

ENSG00000125618

Associated proteins - SwissProt Accession ID

Q06710

Associated PDB IDs

2k27

Cytogenetic Band

2q14.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Thyroid hormone synthesis	hsa04918	6.56
Thyroid cancer	hsa05216	7.48
Pathways in cancer	hsa05200	3.98
Transcriptional misregulation in cancer	hsa05202	5.21

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
nucleic acid binding	GO:0003676	1.44
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
molecular transducer activity	GO:0060089	2.32
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
receptor activity	GO:0004872	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
G-protein coupled receptor activity	GO:0004930	2.95
sequence-specific double-stranded DNA binding	GO:1990837	3.2
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
regulatory region nucleic acid binding	GO:0001067	3.03
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
thyroid-stimulating hormone receptor activity	GO:0004996	9.05
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transmembrane signaling receptor activity	GO:0004888	2.57
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
protein-hormone receptor activity	GO:0016500	7.17
transmembrane receptor activity	GO:0099600	2.53
nucleic acid binding transcription factor activity	GO:0001071	2.65