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FLASH GENE

Symbol

PAX9

contributors: mct/npt/pgu - updated : 27-06-2018

HGNC name	paired box 9
HGNC id	8623

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

constitutive of

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 digestive esophagus         Digestive mouth tongue       Reproductive female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

HOMOLOGY

interspecies

homolog to murine Pax9

Homologene

FAMILY

paired family of homobox protein

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in the development of a variety of organs and skeletal elements
	transcription factor that is important in tooth development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	vertebral developement

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (homeodomain)

RNA

small molecule

protein	interacting with FOXG1, JARID1B
	interaction with MSX1 ( MSX1 may serve as a modulator of the PAX9 transcription factor activity, fine-tuning BMP4 expression, and regulating its own expression in a feedback loop)
	interacting with OSR2 (OSR2 acts downstream of PAX9 and patterns the mesenchymal odontogenic field through protein-protein interactions with MSX1 and PAX9 during early tooth development)

cell & other

REGULATION

Other

regulated by SHH and GLI3 (context dependent, with major differences between the limb and somite)

ASSOCIATED DISORDERS

corresponding disease(s)

OLD , HYD1 , DEL14QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   aberrant expression in chondrocytes of vertebral column in Jarcho-Levin syndrome

Susceptibility

to nonsyndromic cleft lip with or without cleft palate to morphological variation in permanent teeth

Variant & Polymorphism other	polymorphisms increasing the risk of nonsyndromic cleft lip with or without cleft palate
	significant associations of PAX9 SNPs with shoveling of upper first incisors

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS