RAX2 - retina and anterior neural fold homeobox 2 Gene

中文名称：视网膜和前神经皱襞同源框 2

种属: Homo sapiens

同用名: QRX; RP95; ARMD6; RAXL1; CORD11

基因 ID: 84839 | 基因类型: protein coding

关于 RAX2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,769,089-3,772,228 (from NCBI)

This gene has 2 transcripts (splice variants), 56 orthologues, 50 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码一种在眼睛发育中起作用的含有同源结构域的蛋白质。该基因的突变会导致 6 型年龄相关性黄斑变性，这是一种导致蛋白质和脂质在视网膜色素上皮下和布鲁赫膜内积聚的眼部疾病。该基因的缺陷还会导致 11 型视锥细胞营养不良，这种疾病的特征是视锥细胞最初发生退化，导致色觉和视力丧失，随后视杆细胞发生退化，进而发展为夜盲症以及周边视力的丧失。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 1 月]

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

RAX2 基因产物(2)

mRNA	Protein	Name
NM_001319074.4	NP_001306003.2	retina and anterior neural fold homeobox protein 2
NM_032753.4	NP_116142.1	retina and anterior neural fold homeobox protein 2

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	15028672	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	15028672	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	15028672	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

RAX2 蛋白结构

Homeobox

0
100
184 a.a.

蛋白主名

其他名称

retina and anterior neural fold homeobox protein 2

Q50-type retinal homeobox protein

关联疾病

疾病名称

别名

Cone-Rod Dystrophy 11

CORD11

Dystrophy, Cone-Rod, Type 11

Macular Degeneration, Age-Related, 6

ARMD6	Age Related Macular Degeneration 6
Macular Degeneration, Age-Related, Type 6

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Cold-Induced Sweating Syndrome 3

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Night Blindness

Nyctalopia

Cerebellar Ataxia, Cayman Type

Cayman Type Cerebellar Ataxia	Ataxia, Cerebellar, Cayman Type
ATCAY	Cayman Cerebellar Ataxia
Cayman Ataxia

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

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RAX2 - retina and anterior neural fold homeobox 2 Gene

关于 RAX2

功能概要

RAX2 基因产物(2)

RAX2 蛋白结构

关联疾病

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RAX2 - retina and anterior neural fold homeobox 2 Gene

关于 RAX2

功能概要

RAX2 基因产物(2)

RAX2 蛋白结构

关联疾病

相关产品

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z