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FLASH GENE

Symbol

PAX8

contributors: mct/ - updated : 18-11-2017

HGNC name	paired box 8
HGNC id	8622

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHNG2 hypothyroidism, congenital, nongoitrous 2
Location	2q13      Physical location : 113.973.574 - 114.036.498
Synonym name	paired box gene 8
	paired box homeotic gene 8

DNA

TYPE	functioning gene
STRUCTURE	62.93 kb     12 Exon(s)    single Copie(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003466 12 - 4065 NP_003457 48 450 - 1992 1337742 also called PAX8A 11 exons NM_013952 12 splicing 3986 NP_039246 43 398 - 1992 1337742 also called PAX8C lack exons 7, 8 NM_013953 10 splicing 3755 NP_039247 - 321 - 1992 1337742 also called PAX8D lack exon 8 NM_013992 9 splicing 3653 NP_054698 - 287 - 1992 1337742 also called PAX8E lack exons 8.9.10

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Homo sapiens Reproductive female system oviduct       Homo sapiens Fetal Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Homo sapiens

cell lineage
cell lines	Wilms tumor cells
fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text

kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a paired DNA binding domain with a truncated homeo domain, comprising two structurally distinct N terminal (NTS) and C terminal subdomains
	a truncated helix-turn helix DNA binding domain
	an intermediary octapeptide motif

HOMOLOGY

interspecies

homolog to murine Pax8

intraspecies

homolog to PAX2

Homologene

FAMILY

paired box protein family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
text	expressed in the nuclei of Müllerian glandular epithelial cells

basic FUNCTION	potential modulator of WT1 expression, in developing central nervous system and regulating thyroglobulin gene transcription (regulation of thyroid cells)
	able to coordinately transactivate the promoter for both the telomerase catalytic subunit (TERT) and the telomerase RNA component (TERC) genes
	may have a role in telomerase regulation
	may play a crucial role in heart development and regulating cardiocyte apoptosis
	transcriptionally regulates the E2F1 promoter directly, and E2F1 transcription is enhanced after RB1 depletion
	in cancer, frequent and persistent expression of PAX8 is required for cell growth control through transcriptional activation of E2F1 expression and upregulation of the RB1-E2F1 pathway
	critical regulator required for proper development and differentiation of thyroid follicular cells
	important role of the DNA-binding function of PAX8 in the pathogenesis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
	function of the MECOM locus underlies PAX8-driven oncogenic functions in ovarian cancer

CELLULAR PROCESS	cell life, differentiation
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	thyroid cell differentiation (development of normal thyroid)

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (truncated homeodomain)

RNA

small molecule

protein	TTF1
	interacting with EP300 coactivator (mediating the functional synergism between PAX8 and TTF-1 in thyroid-specific gene expression)
	fusion gene PAX8-PPARgamma disrupts normal transcriptional regulation by stimulating some genes and inhibiting others, and may mediate follicular thyroid cell growth and loss of differentiation that ultimately leads to carcinogenesis
	binds directly to the TERT and TERC promoters, up-regulating TERT and TERC mRNA, as well as telomerase activity
	interact with the RB1 protein, and thus regulate the cell cycle directly or indirectly
	CDH16 is a novel downstream target of the transcription factor PAX8, likely since the early steps of thyroid development, and its expression is associated with the fully differentiated state of the thyroid cell
	in thyroid cells PAX8 directly binds the Neuropilin-2 promoter leading to its transcriptional repression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHNG2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       chimeric fusion protein 5' - PAX8 - PPARG - 3' by translocation t(2;3) (q13;p25) in thyroid follicular carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS