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FLASH GENE

Symbol

POU4F3

contributors: mct - updated : 07-12-2011

HGNC name	POU class 4 homeobox 3
HGNC id	9220

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	1.33 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
motif	repetitive sequence
text structure	at least two repeat polymorphisms &
	8722; 3432 poly-G polymorphism and &
	8722; 566(GT)n interact to influence activity of a newly identified SP1 regulatory element

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_002700 2 - 1182 NP_002691 - 338 - 2004 15465029

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

cochlea

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

POU specific and homeo (helix-turn-helix) domains

HOMOLOGY

interspecies

homolog to C.elegans c30a5.7a

Homologene

FAMILY	POU transcription factor family
	class- 4 subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in determining or maintaining the identities of a small subset of visual system neurons
	playing a crucial role for the mature differentiation and survival of inner ear sensory hair cells
	may play a role in regulating neurotrophin gene expression in the inner ear
	essential for the survival of auditory sensory hair cells and several mutations in human POU4F3 cause hearing loss

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	neural deveopment (neurogenesis eye morphogenesis)

PATHWAY

metabolism

signaling

sensory transduction/hearing , sensory transduction/vision

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interacting with GFI1 (target of POU3F4)
	interacting with BDNF, and NTF3
	CAPRIN1 is downregulated by POU4F3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA15

related resource

Hereditary Hearing Loss Homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS