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FLASH GENE

Symbol

ATOH7

contributors: mct/pgu - updated : 07-07-2012

HGNC name	atonal homolog 7 (Drosophila)
HGNC id	13907

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RNANC retinal non attachment, nonsyndromic congenital
Location	10q21.3      Physical location : 69.990.385 - 69.991.855
Synonym name	helix-loop-helix protein hATH-5
	class A basic helix-loop-helix protein 13
Synonym symbol(s)	Math5, bHLHa13

DNA

TYPE	functioning gene
STRUCTURE	1.47 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_145178 1 - 1487 NP_660161 16.7 152 - 2002 11889557

EXPRESSION

Rna function	mRNA expression was detected in retina
Type

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 Visual eye sclera         eye retina fovea     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual inner nuclear layer

cells

System Cell Pubmed Species Stage Rna symbol Visual ganglion cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a basic helix-loop-helix protein

mono polymer

dimer

HOMOLOGY

interspecies

ortholog to murine Atoh7

Homologene

FAMILY	basic helix-loop-helix (bhlh) family of transcription factor
	atonal subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	activating e-box-dependent transcription in collaboration with e47
	playing a role in the differentiation of subsets of neural cells (ganglion cells)
	having an important role in determining optic disc size in humans
	orchestrates neurogenesis in multiple ways, regulating both intrinsic and extrinsic processes
	may up-regulate retinal ganglion cell expression patterns in retinal progenitor cells and change the expression of ATOH7-associated genes
	participates in the ontogenesis of the vertebrate retina
	plays a central role in promoting retinal ganglion cells fate by activating POU4F2 expression in retinal precursor cells
	plays a role in amacrine subtype specification
	potentially regulates the generation of multiple retinal cell types via different mechanisms during retinogenesis
	ATOH7-independent program for initial activation of retinal ganglion cell genes
	BHLH transcription factor gene that is required for retinal ganglion cell (RGC) and optic nerve development
	transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development
	having importance in retinal vascular development and hyaloid regression

CELLULAR PROCESS	cell life, differentiation
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimerization with another bhlh protein required for efficient DNA binding

INTERACTION

DNA

binding

RNA

small molecule

protein

ATOH7 itself influences the subtypes of BARHL2-dependent amacrine cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RNANC

Susceptibility

to optic nerve hypoplasia to open-angle glaucoma

Variant & Polymorphism other	two novel non-synonymous mutations (Arg65Gly, Ala47Thr) associated to optic nerve hypoplasia
	common variants significantly associated with glaucoma

Candidate gene	for optic nerve aplasia
Marker
Therapy target

ANIMAL & CELL MODELS

	optic nerve agenesis in mice Atoh7(-/-)
	Atoh7-deficient mice have normal sized eyes but have a >95p100 reduction in retinal ganglion cells (RGCs) number, and lack an optic nerve and chiasm
	in Atoh7 mutant mice, the absence of trophic factors secreted by RGCs prevents the development of the intrinsic retinal vasculature and the regression of fetal blood vessels, causing persistent hyperplasia of the primary vitreous (PHPV)