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FLASH GENE

Symbol

SIX4

contributors: mct - updated : 22-01-2014

HGNC name	sine oculis homeobox homolog 4 (Drosophila)
HGNC id	10890

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	14.78 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

mapped in a cluster with the SIX1 and SIX6 genes

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017420 3 - 6277 NP_059116 - 781 - -

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 Reproductive female system uterus     moderately   female system breast mammary gland   moderately   female system placenta     moderately Respiratory lung       moderately Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a six domain
	a helix-turn-helix (homeo) DNA binding domain
	an intervening region of unknown function
	a transactivation domain

HOMOLOGY

interspecies	homolog to Drosophila sine oculis homeo box SIX4
	ortholog to rattus Six 4 predicted
	ortholog to murine Six4

Homologene

FAMILY

SIX/Sine oculis homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	putatively involved in differentiation or maturation of neuronal cells and retinal development
	SIX1 and SIX4 regulate SLC12A2
	SIX1 and SIX4 may act synergistically to mediate olfactory placode specification and patterning through FGF and BMP signaling pathways
	SIX1 and SIX4 are essential global regulators of muscle gene expression, as well as a central switch to drive the skeletal muscle fast phenotype during fetal development
	SIX1 and SIX4 function synergistically to form gustatory papillae during development of the tongue
	SMARCD3-SIX4 transcriptional complex inducing DEPTOR and mediating activation of AKT1 and glycolytic metabolism by SMARCD3 in a cell-autonomous manner
	SIX1 and SIX4 are required for male gonadal differentiation
	combinatorial expression of SIX1, SIX2, and SIX4 is required for the molecular programs governing craniofacial and cerebral development

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	morphogenesis
	eye development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

SIX4 cooperates with SIX1 in the metanephric mesenchyme to regulate the level of GDNF expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Six1/Six4-deficient mice exhibited more severe kidney phenotypes than the Six1-deficient mice