RFX2 - regulatory factor X2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5990

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFX2 Protein Structure

RFX1_trans_act

RFX_DNA_binding

0
200
400
600
723 a.a.

Protein Preferred Names	Protein Names
DNA-binding protein RFX2	HLA class II regulatory factor RFX2

RFX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RFX2	P48378	NFKBID	Homo sapiens	Q8NI38	Validated Y2H	32296183
Intra	RFX2	P48378	NFKBID	Homo sapiens	Q8NI38	Y2H Prey Pooling	32296183
Intra	RFX2	P48378	NFKBID	Homo sapiens	Q8NI38	Y2H Array	32296183
Intra	RFX2	P48378	FOXN4	Homo sapiens	Q96NZ1	Y2H Prey Pooling	32296183
Intra	RFX2	P48378	FOXN4	Homo sapiens	Q96NZ1	Validated Y2H	32296183
Intra	RFX2	P48378	EYA2	Homo sapiens	O00167-2	Y2H Array	32296183
Intra	RFX2	P48378	EYA2	Homo sapiens	O00167-2	Y2H Prey Pooling	32296183
Intra	RFX2	P48378	FOXJ1	Homo sapiens	Q92949	Y2H Prey Pooling	32296183
Intra	RFX2	P48378	FOXJ1	Homo sapiens	Q92949	Validated Y2H	32296183
Intra	RFX2	P48378	FOXJ1	Homo sapiens	Q92949	Y2H Array	32296183
Intra	RFX2	P48378	PIAS2	Homo sapiens	O75928-2	Y2H Array	32296183
Intra	RFX2	P48378	PIAS2	Homo sapiens	O75928-2	Y2H Prey Pooling	32296183
Intra	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Y2H Prey Pooling	32296183
Intra	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Validated Y2H	32296183
Intra	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Y2H Array	32296183
Intra	RFX2	P48378	RFX6	Homo sapiens	Q8HWS3	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11880	RFX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22299	Rfx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28822	Rfx2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RFX2	NCBI