RBFOX2 - RNA binding fox-1 homolog 2 Gene

Homo sapiens

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

Gene ID: 23543 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Fox-1_C

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11725	RBFOX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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