2. Gene
  3. RFX3 - regulatory factor X3 Gene

RFX3 - regulatory factor X3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 5991 | Gene type: protein coding

About RFX3

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:3,218,297-3,526,001 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues and 7 paralogues. Broad expression in testis (RPKM 2.7), brain (RPKM 2.6) and 24 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, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with Other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

RFX3 Products(5)

mRNA Protein Name
NM_001282116.2 NP_001269045.1 transcription factor RFX3 isoform b
NM_001282117.2 NP_001269046.1 transcription factor RFX3 isoform c
NM_001377999.1 NP_001364928.1 transcription factor RFX3 isoform d
NM_002919.4 NP_002910.1 transcription factor RFX3 isoform a
NM_134428.3 NP_602304.1 transcription factor RFX3 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
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
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
20148032 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12411430 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
20148032 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromatin IDA
IDA: Inferred from direct assay
20413507 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

RFX3 Protein Structure

RFX1_trans_act

RFX1_trans_act: RFX1 transcription activation region (1 - 139)

RFX_DNA_binding

RFX_DNA_binding: RFX DNA-binding domain (176 - 259)

  • 0
  • 200
  • 400
  • 600
  • 749 a.a.
Protein Preferred Names Protein Names

transcription factor RFX3

DNA binding protein RFX3

RFX3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RFX3 P48380 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
RFX3 P48380 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra
RFX3 P48380 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra
RFX3 P48380 TRAF2 Homo sapiens Q12933
Y2H Pooling
16189514
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Array
31515488
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192
Validated Y2H
32296183
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Array
25416956
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Prey Pooling
32296183
Intra
RFX3 P48380 FHL2 Homo sapiens Q14192
Y2H Array
32296183
Intra
RFX3 P48380 FHL3 Homo sapiens Q13643
Validated Y2H
25416956
Intra
RFX3 P48380 FHL3 Homo sapiens Q13643
Y2H Array
31515488
Intra
RFX3 P48380 TRIP6 Homo sapiens Q15654
Y2H Prey Pooling
25416956
Intra
RFX3 P48380 TRIP6 Homo sapiens Q15654
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2
Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers
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
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
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
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S 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-RS11881 RFX3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris RFX3 VGNC VGNC:45505
Felis catus RFX3 VGNC VGNC:69305
Mus musculus RFX3 MGD MGI:106582
Bos taurus RFX3 VGNC VGNC:33895
Rattus norvegicus RFX3 RGD RGD:1307779
Macaca mulatta RFX3 VGNC VGNC:76908