RAX - retina and anterior neural fold homeobox Gene

中文名称：视网膜和前神经皱襞同源框

种属: Homo sapiens

同用名: RX; RAX1; MCOP3; MCOPS16

基因 ID: 30062 | 基因类型: protein coding

关于 RAX

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:59,267,038-59,273,454 (from NCBI)

This gene has 4 transcripts (splice variants), 98 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框的转录因子。该基因在眼原基早期表达，是决定视网膜细胞命运和调节干细胞增殖所必需的。据报道，该基因的突变发生在眼部发育缺陷的患者身上，包括小眼症、无眼症和缺损症。[RefSeq 提供，2009 年 10 月]

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

RAX 基因产物(1)

mRNA	Protein	Name
NM_013435.3	NP_038463.2	retinal homeobox protein Rx

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	10625658	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	10625658	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	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	10625658	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

retinal homeobox protein Rx

retina and anterior neural fold homeobox protein

关联疾病

疾病名称

别名

Microphthalmia, Isolated 3

Isolated Microphthalmia 3	MCOP3
Microphthalmia, Isolated, 3	Isolated Clinical Anophthalmia
Microphthalmia, Isolated, Type 3

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Nanophthalmos

Nanophthalmia

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

Microphthalmia, Syndromic 8

MCOPS8	Mmep Syndrome
Mmep	Syndromic Microphthalmia Type 8
Viljoen-Smart Syndrome	Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism
Syndromic Microphthalmia 8	Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome
Microphthalmia Syndromic 8	Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism
Viljoen Smart Syndrome	Microphthalmia, Syndromic, 8
Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism

Microphthalmia, Syndromic 10

MCOPS10	Moba
Microphthalmia And Brain Atrophy	Syndromic Microphthalmia 10
Microphthalmia-Brain Atrophy Syndrome	Microphthalmia Syndromic 10
Moba Syndrome	Syndromic Microphthalmia Type 10

Microphthalmia, Syndromic 6

MCOPS6	Microphthalmia And Pituitary Anomalies
Microphthalmia With Brain And Digit Anomalies	Microphthalmia With Brain And Digit Developmental Anomalies
Syndromic Microphthalmia Type 6	Syndromic Microphthalmia 6
Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia	Bakrania-Ragge Syndrome
Orofacial Cleft 11	Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
Microphthalmia Syndromic 6	Microphthalmia, Syndromic, 6
Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia	Microphthalmia Syndromic, Type 6

Microphthalmia, Isolated 2

Isolated Microphthalmia 2	MCOP2
Anophthalmia, Clinical, Isolated	Microphthalmia, Isolated, 2
Isolated Clinical Anophthalmia	Microphthalmia, Isolated, Type 2

Alveolar Periostitis

Dry Socket	Alveolitis Of Jaw
Dry Tooth Socket	Alveolar Pyorrhea
Alveolar Osteitis	Alveolitis Sicca Dolorosa
Alveolodental Periostitis

Isolated Microphthalmia

Corneal Staphyloma

Staphyloma Of Cornea

Congenital Staphyloma

Orbital Cyst

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Sclerocornea

Isolated Congenital Sclerocornea

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

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

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-RS11711	RAX Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS11712	RAX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-W130236	Methylene Violet 3RAX	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	RAX	MGD	MGI:109632
Bos taurus	RAX	VGNC	VGNC:56370
Rattus norvegicus	RAX	RGD	RGD:620371
Macaca mulatta	RAX	VGNC	VGNC:82218
Felis catus	RAX	VGNC	VGNC:80477
Canis familiaris	RAX	VGNC	VGNC:53758
Macaca fascicularis	RAX	NCBI	NCBI:102123742
Others	RAX	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RAX - retina and anterior neural fold homeobox Gene

关于 RAX

功能概要

RAX 基因产物(1)

关联疾病

直系同源

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RAX - retina and anterior neural fold homeobox Gene

关于 RAX

功能概要

RAX 基因产物(1)

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