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FLASH GENE

Symbol

IRX6

contributors: mct - updated : 03-10-2018

HGNC name	iroquois homeobox protein 6
HGNC id	14675

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	7.01 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

close to IRX3 and IRX5

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024335 6 - 2337 NP_077311 - 446 - 2001 11435706

EXPRESSION

Type

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 Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell Homo sapiens Visual ganglion cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

homeodomain and a hexapeptide-like motif

HOMOLOGY

Homologene

FAMILY	tale family of homeobox proteins
	Iroquois homeodomain transcription factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing multiples roles during pattern formation of vertebrate embryos
	IRX6 is a key regulator of type 3a bipolar cell identity that prevents these cells from adopting characteristic features of type 2 bipolar cells
	IRX6 is required downstream of bipolar cell specification for the terminal differentiation of type 2, type 3a and possibly type 6 bipolar cells

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	is likely required for the correct axon stratification of HCN4-expressing cells within the OFF sublamina of the inner plexiform layer
	VSX1 has likely a partial inhibitory effect on the expression of IRX6
	IRX6 can activate or repress transcription through Iroquois-binding sites found proximal to RCVRN, VSX1 and TACR3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to anterior/middle hypospadias

Variant & Polymorphism SNP	rs6499755 of IRX6 showed an association with susceptibility to anterior/middle hypospadias

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS