EYA4 - EYA transcriptional coactivator and phosphatase 4 Gene

Also Known as CMD1J; DFNA10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2070

About EYA4

Cytogenetic location: 6q23.2 Genomic coordinates (GRCh38): 6:133,240,593-133,532,128 (from NCBI)

This gene has 29 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 1.8), kidney (RPKM 1.5) and 15 other tissues.

Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein Phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, Apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

EYA4 Products (7)

mRNA	Protein	Name
NM_001301012.2	NP_001287941.1	eyes absent homolog 4 isoform e
NM_001301013.2	NP_001287942.1	eyes absent homolog 4 isoform f
NM_001370458.1	NP_001357387.1	eyes absent homolog 4 isoform g
NM_001370459.1	NP_001357388.1	eyes absent homolog 4 isoform h
NM_004100.5	NP_004091.3	eyes absent homolog 4 isoform a
NM_172103.4	NP_742101.2	eyes absent homolog 4 isoform b
NM_172105.4	NP_742103.1	eyes absent homolog 4 isoform d

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19606496	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
eyes absent homolog 4	dJ78N10.1 (eyes absent)

Related Diseases

Diseases	Alias
Cardiomyopathy, Dilated, 1j	CMD1J Dilated Cardiomyopathy 1j Neurosensory Deafness With Dilated Cardiomyopathy Neurosensory Hearing Loss With Dilated Cardiomyopathy Sensorineural Deafness With Dilated Cardiomyopathy Sensorineural Hearing Loss With Dilated Cardiomyopathy Cardiomyopathy, Dilated, With Sensorineural Hearing Loss, Autosomal Dominant Autosomal Dominant Dilated Cardiomyopathy With Sensorineural Hearing Loss Cardiomyopathy, Dilated 1j Cardiomyopathy Dilated With Sensorineural Hearing Loss Autosomal Dominant Cardiomyopathy, Dilated, Type 1j
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
Rare Genetic Deafness	Rare Genetic Hearing Loss
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Deafness, Autosomal Dominant 13	DFNA13 Autosomal Dominant Nonsyndromic Deafness 13 Autosomal Dominant Deafness 13 Deafness, Autosomal Dominant, 13 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 Deafness, Autosomal Dominant, Type 13
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Deafness, Autosomal Dominant 21	DFNA21 Autosomal Dominant Nonsyndromic Deafness 21 Autosomal Dominant Deafness 21 Deafness, Autosomal Dominant, 21
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Dominant 4 DFNA4A Dfna4 Autosomal Dominant Nonsyndromic Deafness 4a Autosomal Dominant Deafness 4a Deafness, Autosomal Dominant, 4a Deafness Autosomal Dominant 4 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 Deafness, Autosomal Dominant, Type 4a
Chronic Purulent Otitis Media	Chronic Suppurative Otitis Media Csom - [Chronic Suppurative Otitis Media]
Otitis Media	Opsoclonus-Myoclonus Syndrome OMS Otitis Media, Susceptibility To Kinsbourne Syndrome Otitis Media, Chronic/Recurrent Come/Rom Ataxo-Opso-Myoclonus Syndrome Dancing Eye Syndrome Dancing Eye-Dancing Feet Syndrome Oma Syndrome Opsoclonus Myoclonus Syndrome Opsoclonus-Myoclonus-Ataxia Syndrome Poma Syndrome Paraneoplastic Opsoclonus-Myoclonus Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome Opsoclonus Myoclonus OM {Otitis Media, Susceptibility To} Infectious Otitis Media
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Suppurative Otitis Media	Otitis Media With Effusion - Purulent Purulent Otitis Media Otitis Media, Suppurative
Superior Semicircular Canal Dehiscence	Superior Canal Dehiscence Syndrome Superior Semicircular Canal Dehiscence Syndrome Canal Dehiscence Syndrome Superior Canal Dehiscence Superior Canal Syndrome Third Mobile Window Syndrome Scds Anemia, Sickle Cell
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Deafness, Autosomal Recessive 110	DFNB110 Autosomal Recessive Nonsyndromic Deafness 110 Autosomal Recessive Deafness 110 Deafness, Autosomal Recessive, 110
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Middle Ear Disease	Middle Ear Anomaly Disorder Of Middle Ear
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Otosclerosis	Otospongiosis
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS04614	EYA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EYA4	RGD	RGD:1307099
Felis catus	EYA4	VGNC	VGNC:62016
Bos taurus	EYA4	VGNC	VGNC:28673
Mus musculus	EYA4	MGD	MGI:1337104
Canis familiaris	EYA4	VGNC	VGNC:40539
Macaca mulatta	EYA4	VGNC	VGNC:72456
Others	EYA4	NCBI