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FLASH GENE

Symbol

VSX2

contributors: mct - updated : 26-04-2017

HGNC name	visual system homeobox 2
HGNC id	1975

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	23.26 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D14S71 - D14S1025 - VSX2 - D14S1047 - D14S273 - qter
Authors	Percin (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_182894 5 - 2995 NP_878314 - 361 - 2006 16236706

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 nerve cranial nerve       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual inner nuclear layer

cell lineage	retinal neuroblasts
cell lines
fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	progenitor cells of developing retina

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an octopeptide, the helix-turn-helix homeodomain
	a CVC (goldfish ca -Vsx1-Vsx2) domain, and essential function of the CVC domain is to assist the homeodomain in high-affinity DNA binding, which is required for eye organogenesis and unhindered execution of the retinal progenitor program in mammals
	an OAR domain
	homeobox DNA-binding domain

HOMOLOGY

interspecies	homolog to C.elegans ceh-10
	ortholog to murine Chx10
	ortholog to rattus chx10

Homologene

FAMILY

paired-like homeodomain protein family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in the specification and morphogenesis of the sensory retina
	required for retinal progenitor cell proliferation early in retinogenesis and subsequently for bipolar neuron differentiation
	involved in bipolar cells differentiation
	play a critical role in the developing kidney
	LHX3/VSX2 medullary reticular formation neurons are likely involved in locomotion
	utilizes both cell-autonomous and cell-nonautonomous mechanisms to regulate progenitor properties in the embryonic retina
	labels all multipotent retinal progenitor cells (RPCs) and is known to play important roles in retinal development
	can function as a cell autonomous regulator of the regional identity in the primordial retina, presumably through a downstream transcriptional cascade
	important role for VSX2 as a regulator of WNT signaling, suggesting that VSX2 may act to maintain neural retina (NR) identity at the expense of RPE in part by direct repression of WNT pathway constituents
	VSX2 actively promotes spinal V2a interneurons fate, downstream of LHX3, while concomitantly suppressing the motor neurons (MN) developmental program by preventing the MN-specific transcription complex from binding and activating MN genes

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA	binding to the locus control region of the cone pigment cluster LCR-RGCP@

RNA

small molecule

protein	binds sites upstream of the Rod arrestin and Interphotoreceptor retinoid-binding protein genes but not Rhodopsin or Cone opsin (may target these motifs to inhibit rod photoreceptor gene expression in bipolar cells)
	VSX1 is a direct target of VSX2-mediated transcriptional repression
	binds to the NXNL1 promoter (regulates NXNL1 promoter activity in the inner retina)
	interacting with PRDM1 (can bind to the VSX2 enhancer and repress VSX2 enhancer activity)
	VSX2 gene expression requires active FGF signaling and this in turn suppresses DMBX1 expression and maintains cells in an undifferentiated, proliferative retinal progenitor cells (RPCs) state
	VSX2 role in regulating MITF is in part separable from its role in promoting proliferation, and proliferation is excluded as the intrinsic timer that determines when neurogenesis is initiated
	antagonistic relationship between VSX2 and DMBX1 to control retinal progenitor cells (RPCs) proliferation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCIA , MCOP2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       cause reduced proliferation of retinal progenitor cells during development, leading to microphthalmia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS