RFX2 - regulatory factor X2 Gene

中文名称：调节因子 X2

种属: Homo sapiens

基因 ID: 5990 | 基因类型: protein coding

关于 RFX2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:5,993,164-6,110,500 (from NCBI)

This gene has 24 transcripts (splice variants), 205 orthologues and 7 paralogues. Biased expression in testis (RPKM 41.1), lung (RPKM 6.6) and 4 other tissues.

功能概要

该基因是调节因子 X 基因家族的成员，它编码的转录因子包含一个高度保守的有翼螺旋 DNA 结合域。该基因编码的蛋白质在结构上与调节因子 X1、X3、X4 和 X5 相关。它是一种转录激活剂，可以作为单体或作为异源二聚体与其他 RFX 家族成员结合 DNA。这种蛋白质可以与 IL-5 受体 α 基因启动子中的顺式元件结合。已经为该基因描述了编码不同同种型的两个转录变体，并且两个变体都利用替代的聚腺苷酸化位点。[RefSeq 提供，2008 年 7 月]

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with Other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 Receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]

RFX2 基因产物(2)

mRNA	Protein	Name
NM_000635.4	NP_000626.2	DNA-binding protein RFX2 isoform a
NM_134433.3	NP_602309.1	DNA-binding protein RFX2 isoform b

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	16189514	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	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

RFX2 蛋白结构

RFX1_trans_act

RFX_DNA_binding

0
200
400
600
723 a.a.

蛋白主名

其他名称

DNA-binding protein RFX2

HLA class II regulatory factor RFX2

RFX2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	RFX2	P48378	NFKBID	Homo sapiens	Q8NI38	Validated Y2H	32296183
种属内	RFX2	P48378	NFKBID	Homo sapiens	Q8NI38	Y2H Prey Pooling	32296183
种属内	RFX2	P48378	NFKBID	Homo sapiens	Q8NI38	Y2H Array	32296183
种属内	RFX2	P48378	FOXN4	Homo sapiens	Q96NZ1	Y2H Prey Pooling	32296183
种属内	RFX2	P48378	FOXN4	Homo sapiens	Q96NZ1	Validated Y2H	32296183
种属内	RFX2	P48378	EYA2	Homo sapiens	O00167-2	Y2H Array	32296183
种属内	RFX2	P48378	EYA2	Homo sapiens	O00167-2	Y2H Prey Pooling	32296183
种属内	RFX2	P48378	FOXJ1	Homo sapiens	Q92949	Y2H Prey Pooling	32296183
种属内	RFX2	P48378	FOXJ1	Homo sapiens	Q92949	Validated Y2H	32296183
种属内	RFX2	P48378	FOXJ1	Homo sapiens	Q92949	Y2H Array	32296183
种属内	RFX2	P48378	PIAS2	Homo sapiens	O75928-2	Y2H Array	32296183
种属内	RFX2	P48378	PIAS2	Homo sapiens	O75928-2	Y2H Prey Pooling	32296183
种属内	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Y2H Prey Pooling	32296183
种属内	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Validated Y2H	32296183
种属内	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Y2H Array	32296183
种属内	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Y2H Pooling	16189514

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Alstrom Syndrome

ALMS	Alström Syndrome
Alss	Alstrom-Hallgren Syndrome
Alstroem Syndrome

Cardiomyopathy, Familial Hypertrophic, 3

Hypertrophic Cardiomyopathy 3	CMH3
Cardiomyopathy, Hypertrophic, 3	Cardiomyopathy Familial Hypertrophic 3
Cardiomyopathy, Familial Hypertrophic 3	Cardiomyopathy, Hypertrophic, Familial, Type 3

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

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-RS11880	RFX2 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	RFX2	RGD	RGD:1588579
Bos taurus	RFX2	VGNC	VGNC:33894
Macaca mulatta	RFX2	VGNC	VGNC:76907
Canis familiaris	RFX2	VGNC	VGNC:45504
Felis catus	RFX2	VGNC	VGNC:69304
Mus musculus	RFX2	MGD	MGI:106583

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