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FLASH GENE

Symbol

IRX5

contributors: mct - updated : 12-05-2017

HGNC name	iroquois homeobox 5
HGNC id	14361

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HMMS Hamamy syndrome
Location	16q12.2      Physical location : 54.965.110 - 54.968.393
Synonym name	homeodomain protein IRX-2A
	homeodomain protein IRXB2
	iroquois-class homeodomain protein IRX-5
Synonym symbol(s)	IRX-2A, IRXB2, HMMS

DNA

TYPE	functioning gene
STRUCTURE	3.29 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

close to IRX3 and IRX6

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed v2 3 - 875 isoform 2 - 173 - 2006 16527195 also called IRX5A NM_005853 3 - 2078 NP_005844 50.4 483 - 2006 16527195 also called IRX5B NM_001252197 3 - 2075 NP_001239126 - 383 - 2006 16527195

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 Digestive mouth           salivary gland         Reproductive female system uterus     lowly Respiratory lung       lowly Urinary kidney       lowly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains	homeodomain and a hexapeptide-like motif
	acidic and polyproline regions and an iro box

HOMOLOGY

interspecies

homolog to murine Irx5

Homologene

FAMILY	tale/iro family of homeobox proteins
	iroquois homeobox gene family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing multiple roles during pattern formation of vertebrate embryos
	playing a role in retinal cone bipolar cell development and differentiation (Cheng 2005)
	with VSX1,control specific aspects of visual function in circuits of the mammalian retina (Kerschensteiner 2008)
	involved in the regulation of both the cell cycle and apoptosis in human prostate cancer cells (Myrthue 2008)
	possesses the ability to activate the KCND2 promoter (He 2009)
	important for certain postnatal cardiac functions, including cardiac repolarization
	plays an important role in VSMC G1/S-phase cell cycle checkpoint control and apoptosis
	IRX3 and IRX5 can work together to regulate mineralization of specific cranial bones

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	transcriptional control by IRX5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1
	IRX5 is required to repress CXCL12 expression for correct chemoattraction of migratory cell populations in branchial arches and gonads, raising the possibility that craniofacial and gonadal anomalies in individuals with homozygous IRX5 mutations may stem, in part, from a gain of CXCL12 signaling during human development
	complex genetic interactions between IRX3 and IRX5 in embryonic cardiac development and postnatal physiology

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HMMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     promising new therapeutic target in cancer treatment

ANIMAL & CELL MODELS

mice lacking Irx5 appear grossly normal, suggesting that redundancy within the Iroquois family