RBFOX2 - RNA binding fox-1 homolog 2 Gene

Also Known as RTA; fxh; FOX2; RBM9; Fox-2; HNRBP2; HRNBP2; dJ106I20.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23543

About RBFOX2

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:35,738,736-36,028,824 (from NCBI)

This gene has 20 transcripts (splice variants), 1 gene allele, 266 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 22.3), ovary (RPKM 20.4) and 23 other tissues.

Summary

This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and Other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the Estrogen receptor 1 transcription factor and regulates Estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RBFOX2 Products (26)

mRNA Protein Name
NM_001031695.4 NP_001026865.1 RNA binding protein fox-1 homolog 2 isoform 1
NM_001082576.3 NP_001076045.1 RNA binding protein fox-1 homolog 2 isoform 3
NM_001082577.3 NP_001076046.1 RNA binding protein fox-1 homolog 2 isoform 4
NM_001082578.4 NP_001076047.2 RNA binding protein fox-1 homolog 2 isoform 5
NM_001082579.3 NP_001076048.2 RNA binding protein fox-1 homolog 2 isoform 6
NM_001349982.2 NP_001336911.1 RNA binding protein fox-1 homolog 2 isoform 8
NM_001349983.2 NP_001336912.1 RNA binding protein fox-1 homolog 2 isoform 7
NM_001349989.2 NP_001336918.1 RNA binding protein fox-1 homolog 2 isoform 9
NM_001349990.2 NP_001336919.1 RNA binding protein fox-1 homolog 2 isoform 10
NM_001349991.2 NP_001336920.1 RNA binding protein fox-1 homolog 2 isoform 11
NM_001349992.2 NP_001336921.1 RNA binding protein fox-1 homolog 2 isoform 12
NM_001349994.2 NP_001336923.1 RNA binding protein fox-1 homolog 2 isoform 13
NM_001349995.2 NP_001336924.1 RNA binding protein fox-1 homolog 2 isoform 14
NM_001349996.2 NP_001336925.1 RNA binding protein fox-1 homolog 2 isoform 15
NM_001349997.2 NP_001336926.1 RNA binding protein fox-1 homolog 2 isoform 16
NM_001349998.2 NP_001336927.1 RNA binding protein fox-1 homolog 2 isoform 17
NM_001349999.2 NP_001336928.2 RNA binding protein fox-1 homolog 2 isoform 18
NM_001394108.1 NP_001381037.1 RNA binding protein fox-1 homolog 2 isoform 19
NM_001394109.1 NP_001381038.1 RNA binding protein fox-1 homolog 2 isoform 20
NM_001394110.1 NP_001381039.1 RNA binding protein fox-1 homolog 2 isoform 21
NM_001394111.1 NP_001381040.1 RNA binding protein fox-1 homolog 2 isoform 22
NM_001394112.1 NP_001381041.1 RNA binding protein fox-1 homolog 2 isoform 23
NM_001394113.1 NP_001381042.1 RNA binding protein fox-1 homolog 2 isoform 24
NM_001394114.1 NP_001381043.1 RNA binding protein fox-1 homolog 2 isoform 25
NM_001394115.1 NP_001381044.1 RNA binding protein fox-1 homolog 2 isoform 26
NM_014309.4 NP_055124.1 RNA binding protein fox-1 homolog 2 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor binding IDA
IDA: Inferred from direct assay
11875103 GOA
enables RNA binding IDA
IDA: Inferred from direct assay
11875103 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11875103 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
11875103 GOA
Biological Process GO Annotation Evidence References Source
involved in estrogen receptor signaling pathway IDA
IDA: Inferred from direct assay
11875103 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11875103 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
11875103 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

RBFOX2 Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (185 - 252)

Fox-1_C

Fox-1_C: Calcitonin gene-related peptide regulator C terminal (326 - 423)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 451 a.a.
Protein Preferred Names Protein Names

RNA binding protein fox-1 homolog 2

  • RNA binding protein, fox-1 homolog 2

RBFOX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RBFOX2 O43251 CAMK2B Homo sapiens Q13554
Y2H Array
25416956
Intra
RBFOX2 O43251 VAC14 Homo sapiens Q08AM6
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 VAC14 Homo sapiens Q08AM6
Y2H Array
29892012
Intra
RBFOX2 O43251 NAF1 Homo sapiens Q96HR8
Validated Y2H
25416956
Intra
RBFOX2 O43251 NAF1 Homo sapiens Q96HR8
Y2H Array
25416956
Intra
RBFOX2 O43251 NAF1 Homo sapiens Q96HR8
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 PSMA3 Homo sapiens P25788
Y2H Array
25416956
Intra
RBFOX2 O43251 HNRNPF Homo sapiens P52597
Y2H
22365833
Intra
RBFOX2 O43251 HNRNPF Homo sapiens P52597
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 RHOXF2 Homo sapiens Q9BQY4
Y2H Pooling
16189514
Intra
RBFOX2 O43251 RHOXF2 Homo sapiens Q9BQY4
Y2H Array
20211142
Intra
RBFOX2 O43251 RNF8 Homo sapiens O76064
Y2H Array
25416956
Intra
RBFOX2 O43251 MAGED1 Homo sapiens Q9Y5V3
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
25416956
Intra
RBFOX2 O43251 MAGED1 Homo sapiens Q9Y5V3
Y2H Array
25416956
Intra
RBFOX2 O43251 DAZAP2 Homo sapiens Q15038
Anti Tag CoIP
33961781
Intra
RBFOX2 O43251 DAZAP2 Homo sapiens Q15038
Validated Y2H
25416956
Intra
RBFOX2 O43251 RBPMS Homo sapiens Q93062
Anti Tag CoIP
33961781
Intra
RBFOX2 O43251 MAPK1IP1L Homo sapiens Q8NDC0
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 ESR1 Homo sapiens P03372
Anti Tag CoIP
11875103
Intra
RBFOX2 O43251 ESR1 Homo sapiens P03372
Y2H
11875103
Intra
RBFOX2 O43251 DAB1 Homo sapiens O75553
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 DAB1 Homo sapiens O75553
Validated Y2H
25416956
Intra
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H Array
16713569
Intra
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H
16713569
Intra
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
23275563
Intra
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Validated Y2H
25416956
Intra
RBFOX2 O43251 QKI Homo sapiens Q96PU8
Y2H Array
16713569
Intra
RBFOX2 O43251 C1orf94 Homo sapiens Q6P1W5
Y2H Array
25416956
Intra
RBFOX2 O43251 C1orf94 Homo sapiens Q6P1W5
Validated Y2H
25416956
Intra
RBFOX2 O43251 C1orf94 Homo sapiens Q6P1W5
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Y2H Prey Pooling
25416956
Intra
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Y2H Array
31515488
Intra
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Validated Y2H
25416956
Intra
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

RBFOX2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83837 RBFOX2 Antibody (YA3534) IHC-P, FC, ELISA Human
HY-P83837A RBFOX2 Antibody (YA3534)(PBS only) IHC-P, FC, ELISA Human

Related Diseases

Diseases Alias
Hypoplastic Left Heart Syndrome

  • Hlhs

  • Heart, Hypoplastic Left, Syndrome

  • Hypoplasia Of The Left Heart

  • Left Heart Hypoplasia Syndrome

  • Hlhs - [Hypoplastic Left Heart Syndrome]

  • Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

  • Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

  • Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

  • Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

  • Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

  • Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Disorder Of Sexual Development

  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders
Myopathy, Centronuclear, 4

  • CNM4

  • Centronuclear Myopathy 4

  • Congenital Myopathy With Internal Nuclei And Atypical Cores

  • Centronuclear Myopathy Type 4

  • Myopathy, Centronuclear, Type 4
Myopathy, Centronuclear, 5

  • CNM5

  • Centronuclear Myopathy 5

  • Myopathy, Centronuclear, Type 5
Tarp Syndrome

  • TARPS

  • Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

  • Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

  • Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

  • Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

  • Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

  • Pierre Robin Sequence - Congenital Heart Defect - Talipes

  • Pierre Robin Syndrome - Congenital Heart Defect - Talipes

  • Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

  • Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Benign Epilepsy With Centrotemporal Spikes

  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11725 RBFOX2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris RBFOX2 VGNC VGNC:45399
Macaca mulatta RBFOX2 VGNC VGNC:76685
Bos taurus RBFOX2 VGNC VGNC:33778
Felis catus RBFOX2 VGNC VGNC:69267
Mus musculus RBFOX2 MGD MGI:1933973
Rattus norvegicus RBFOX2 RGD RGD:1311838
Others RBFOX2 NCBI