2. Gene
  3. RFX2 - regulatory factor X2 Gene

RFX2 - regulatory factor X2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 5990 | Gene type: protein coding

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 Reference 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

RFX1_trans_act: RFX1 transcription activation region (1 - 156)

RFX_DNA_binding

RFX_DNA_binding: RFX DNA-binding domain (195 - 275)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11880 RFX2 Human Pre-designed siRNA Set A Pre-designed Sets / 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