EYA4 - EYA transcriptional coactivator and phosphatase 4 Gene

中文名称：EYA 转录共激活因子和磷酸酶 4

种属: Homo sapiens

同用名: CMD1J; DFNA10

基因 ID: 2070 | 基因类型: protein coding

关于 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.

功能概要

该基因编码眼睛缺失 (EYA) 蛋白家族的成员。编码的蛋白质可能通过其蛋白磷酸酶活性充当转录激活剂，它可能对眼睛发育和 Corti 成熟器官的持续功能很重要。该基因的突变与耳聋常染色体显性非综合征感音神经 10 位点的语后、进行性、常染色体显性遗传性听力损失有关。编码的蛋白质也是一种推定的致癌基因，在 DNA 损伤、细胞损伤和病毒攻击后介导 DNA 修复、细胞凋亡和先天免疫。该基因的缺陷也与扩张型心肌病 1J 有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2014 年 7 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	19606496	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

蛋白主名

其他名称

eyes absent homolog 4

dJ78N10.1 (eyes absent)

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04614	EYA4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

EYA4 - EYA transcriptional coactivator and phosphatase 4 Gene

关于 EYA4

功能概要

EYA4 基因产物(7)

关联疾病

直系同源

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EYA4 - EYA transcriptional coactivator and phosphatase 4 Gene

关于 EYA4

功能概要

EYA4 基因产物(7)

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z