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FLASH GENE

Symbol

SIX6

contributors: - updated : 25-08-2005

HGNC name	sine oculis homeobox homolog 6 (Drosophila)
HGNC id	10892

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BAPA bilateral anophthalmia, absence of the optic nerve and chiasma DEL14Q22 chromosome 14q deletion, encompassing band q22
Location	14q22.3-q23      Physical location : 60.975.937 - 60.978.523
Synonym symbol(s)	OPTX2, SIX9

DNA

TYPE	functioning gene
STRUCTURE	2.00 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

Map	cen - D14S1038 - SIX4 - D14S1166 - D14S1159 - SIX1 - SIX6 - D14S997 - qter
Authors	Gallardo (99)

regionally located

closely linked to SIX1 and SIX4

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

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 endocrine brain diencephalon pituitary     Nervous brain diencephalon hypothalamus       nerve cranial nerve optic nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Nervous oligodendrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	developing retina

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six homeodomains
	a helix-turn-helix DNA (homeo) binding domain

HOMOLOGY

interspecies	homolog to Drosophila sine oculis homeo box SIX6
	ortholog to murine Six6
	homolog to C.elegans ceh-32
	ortholog to chick Optx2

Homologene

FAMILY

sine oculis (SIX/SINE) family of homeodomain transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION

involved in eye development

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development , cellular trafficking transport

text	histogenesis and organogenesis

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BAPA , DEL14Q22

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice deficient in the Six6 homeodomain factor (Li,2002)