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FLASH GENE

Symbol

POU6F2

contributors: mlc - updated : 14-11-2007

HGNC name	POU class 6 homeobox 2
HGNC id	21694

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	458.00 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing 2267 72.5 684 - Zhou (1996) insertion of an evolutionarily conserved peptide of 36 AA into the DNA recognition helix of the Pou specific domain no binding to a consensus Oct-1 binding site variant 2 - splicing 2159 68.5 648 - Zhou (1996) without insertion of 36 AA binding a consensus Oct-1 binding site variant 3 - - 2223 - 691 - Perotti (2004)

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 Nervous brain diencephalon hypothalamus       brain diencephalon epithalamus habenula   Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Visual cone photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eyes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one homeobox DNA-binding domain
	a bipartite DNA-binding domain, consisting of a POU-specific domain and a POU heterodomain, separated by a variable polylinker

HOMOLOGY

Homologene

FAMILY	POU homeodomain family of transcription factors
	class- 6 subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	tumor suppressor involved in hereditary predisposition to Wilms tumor
	involved in early steps in the differentiation of amacrine and ganglion cells

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development , nervous system

text	central nervous system development

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in Wilms tumor tumoral germinal mutation       in Wilms tumor

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS