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FLASH GENE

Symbol

SIX5

contributors: - updated : 16-04-2007

HGNC name	sine oculis homeobox homolog 5 (Drosophila)
HGNC id	10891

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	4.00 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - SIX5 - 5' - DMPK - 3' - DMWD - qter
Authors	Boucher (95)

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

widely

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 adrenal gland       highly Nervous nerve cranial nerve     highly Reproductive female system ovary     highly   male system testis     moderately   male system prostate     highly Visual eye       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal eyes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three major transcription initiation sites, one (proximal) specific to early embryo, the other two common among adult heart and muscle
	a Six domain
	a helix-turn-helix, DNA (homeo) binding domain

HOMOLOGY

interspecies	homolog to Drosophila sine oculis homeo box SIX5
	homolog to rattus Six5 (86.72 pc)
	homolog to murine Six5 (87.90 pc)

intraspecies

homolog to AREC3 (muscle-specific transcription factor)

Homologene

FAMILY

six class of homeobox

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	potentially involved in the development of adult onset cataracts of DM
	regulating genes involved in myoblast fusion and the germline soma interaction (muscle and gonads development
	required for spermatogenic cell survival and spermiogenesis

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

IGFBP5 (playing a role in pathogenesis of myotonic dystrophy)

cell & other

REGULATION

inhibited by

CTG repeat expansion in myotonic dystrophy

ASSOCIATED DISORDERS

corresponding disease(s)

BOR2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function in dystrophia myotonica

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS