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  2. EYA2 - EYA transcriptional coactivator and phosphatase 2 Gene

EYA2 - EYA transcriptional coactivator and phosphatase 2 Gene

中文名称:EYA 转录共激活因子和磷酸酶 2

种属: Homo sapiens

同用名: EAB1

基因 ID: 2139 | 基因类型: protein coding

关于 EYA2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,894,843-47,188,844 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues and 3 paralogues. Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues.

功能概要

该基因编码眼睛缺失 (EYA) 蛋白家族的成员。编码的蛋白质可能经过翻译后修饰,并可能在眼睛发育中发挥作用。小鼠中的一种类似蛋白质可以充当转录激活剂。可变剪接导致多个转录变体,但所有这些变体的全长性质尚未确定。[RefSeq 提供,2009 年 7 月]

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]

EYA2 基因产物(2)

mRNA Protein Name
NM_005244.5 NP_005235.3 eyes absent homolog 2 isoform a
NM_172110.4 NP_742108.2 eyes absent homolog 2 isoform c
蛋白主名 其他名称

eyes absent homolog 2

关联疾病

疾病名称 别名
Branchiootic Syndrome

Bo Syndrome

Branchiootic Dysplasia

Bor

Bo Syndrome 1

Bos1

Branchiootic Syndrome 1

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

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

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

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

直系同源

种属 基因名 来源 基因 ID
Felis catus EYA2 VGNC VGNC:62014
Rattus norvegicus EYA2 RGD RGD:620096
Bos taurus EYA2 VGNC VGNC:28671
Canis familiaris EYA2 VGNC VGNC:40537
Macaca mulatta EYA2 VGNC VGNC:72454
Mus musculus EYA2 MGD MGI:109341