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FLASH GENE

Symbol

EYA4

contributors: - updated : 26-01-2006

HGNC name	eyes absent homolog 4 (Drosophila)
HGNC id	3522

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1J cardiomyopathy, dilated 1J DFNA10 neurosensory deafness 10
Location	6q23      Physical location : 133.562.494 - 133.853.257
Synonym symbol(s)	RP11-704J174
EC.number	3.1.3.48

DNA

TYPE	functioning gene
STRUCTURE	288.00 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

and alternatif exon 16a

MAPPING

cloned

Y

linked

Y

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed EYA4 - - 3077 69 639 - Borsani exon 19 - exon 20 + EYA4a - splicing - 61 569 skeletal muscle Borsani exon 5 EYA4b - splicing - 49 452 cell lines, £lymphoblastoid, lens epithelial Borsani exon 16a EYA4c - splicing - 58 538 heart Borsani exon 19 + exon 20 -

EXPRESSION

Type

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 Cardiovascular heart         Reproductive female system ovary         male system testis       Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	primarily in the craniofacial mesenchyme, the dermamyotome and the limb

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	C terminal large highly conserved domain of 271 AA,the eya homology domain
	a basic segment followed by an alpha helical domain composed of four successive hepta repeats forming a leucine zipper

HOMOLOGY

Homologene

FAMILY

phosphatase subgroup of the haloacid dehalogenase-like (HAD)hydrolase superfamily

CATEGORY

regulatory , transcription factor , receptor membrane tyrosine phosphatase

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
	intracellular,nucleus

basic FUNCTION	transcriptional coactivator playing a role in embryonic and post natal development of mature organ of CORTI
	participating directly in the modulation of cellular signaling through its phosphatase activity

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	transcriptional activator

PATHWAY

metabolism

signaling

sensory transduction/hearing , sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	SIX (EYA4/SIX mediated transcriptional regulation in heart function)
	DAGH

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA10 , CMD1J

related resource

Hereditary Hearing Loss Homepage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS