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FLASH GENE

Symbol

PHOX2A

contributors: - updated : 13-09-2007

HGNC name	paired-like (aristaless) homeobox 2a
HGNC id	691

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FEOM2 congenital fibrosis of the extraocular muscles, 2
Location	11q13.3-q13.4      Physical location : 71.950.121 - 71.955.220
Synonym name	aristaless (Drosophila) homeobox
	paired-like homeo domain gene ARIX
Synonym symbol(s)	ARIX, NCAM2, PMX2A, MGC52227

DNA

TYPE	functioning gene
STRUCTURE	5.00 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	Binding site   transcription factor
text structure	canonical Sp1 binding site and homeodomain transcription factors binding sites

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

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 mouth tongue       Endocrine adrenal gland medulla       Nervous brain           nerve cranial nerve oculomotor nerve       nerve cranial nerve trochlear nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous autonomous       Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	during neuronal differentiation

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an helix-turn-helix and paired DNA binding domains

HOMOLOGY

interspecies

homolog to Drosophila aristaless

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	functioning as a transcriptional activator of the promoter of the dopamine beta hydroxylase (DBH)
	involved in the midbrain motor nuclei development (III and IV)
	participates in specifying the autonomic nervous system, and involved in the transcriptional control of the noradrenergic neurotransmitter phenotype as it regulates the gene expression of tyrosine hydroxylase and dopamine hydroxylase

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	mediating protein kinase stimulated dopamine beta-hydroxylase gene transcription
	capable of regulating the transcription of the 3 nicotinic acetylcholine receptor gene (CHRNA3), which encodes the ligand-binding subunit of the ganglionic type nicotinic receptor
	interacting with TLX2 (involved in the cascade leading to TLX2 transactivation and presumably in the intestinal neuronal differentiation)

cell & other

REGULATION

Other

regulated by PMX2B

ASSOCIATED DISORDERS

corresponding disease(s)

FEOM2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS