1. Gene
  2. RBFOX3 - RNA binding fox-1 homolog 3 Gene

RBFOX3 - RNA binding fox-1 homolog 3 Gene

Homo sapiens

Also known as FOX3; NEUN; FOX-3; HRNBP3

Gene ID: 146713 | Gene type: protein coding

About RBFOX3

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:79,089,345-79,665,571 (from NCBI)

This gene has 14 transcripts (splice variants), 265 orthologues and 2 paralogues. Biased expression in brain (RPKM 11.3), prostate (RPKM 4.9) and 4 other tissues.

Summary

This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

RBFOX3 Products(47)

mRNA Protein Name
NM_001082575.3 NP_001076044.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001350451.2 NP_001337380.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001350453.2 NP_001337382.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385804.1 NP_001372733.1 RNA binding protein fox-1 homolog 3 isoform 3
NM_001385805.1 NP_001372734.1 RNA binding protein fox-1 homolog 3 isoform 3
NM_001385806.1 NP_001372735.1 RNA binding protein fox-1 homolog 3 isoform 4
NM_001385807.1 NP_001372736.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385808.1 NP_001372737.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385809.1 NP_001372738.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385810.1 NP_001372739.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385811.1 NP_001372740.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385812.1 NP_001372741.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385813.1 NP_001372742.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385814.1 NP_001372743.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385815.1 NP_001372744.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385816.1 NP_001372745.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385817.1 NP_001372746.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385818.1 NP_001372747.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385819.1 NP_001372748.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385820.1 NP_001372749.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385821.1 NP_001372750.1 RNA binding protein fox-1 homolog 3 isoform 2
NM_001385822.1 NP_001372751.1 RNA binding protein fox-1 homolog 3 isoform 5
NM_001385823.1 NP_001372752.1 RNA binding protein fox-1 homolog 3 isoform 5
NM_001385824.1 NP_001372753.1 RNA binding protein fox-1 homolog 3 isoform 6
NM_001385825.1 NP_001372754.1 RNA binding protein fox-1 homolog 3 isoform 7
NM_001385826.1 NP_001372755.1 RNA binding protein fox-1 homolog 3 isoform 7
NM_001385827.1 NP_001372756.1 RNA binding protein fox-1 homolog 3 isoform 9
NM_001385828.1 NP_001372757.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385829.1 NP_001372758.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385830.1 NP_001372759.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385831.1 NP_001372760.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385832.1 NP_001372761.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385833.1 NP_001372762.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385834.1 NP_001372763.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385835.1 NP_001372764.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385836.1 NP_001372765.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385837.1 NP_001372766.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385838.1 NP_001372767.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385839.1 NP_001372768.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385840.1 NP_001372769.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385841.1 NP_001372770.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385842.1 NP_001372771.1 RNA binding protein fox-1 homolog 3 isoform 1
NM_001385843.1 NP_001372772.1 RNA binding protein fox-1 homolog 3 isoform 8
NM_001385844.1 NP_001372773.1 RNA binding protein fox-1 homolog 3 isoform 8
NM_001385845.1 NP_001372774.1 RNA binding protein fox-1 homolog 3 isoform 8
NM_001385846.1 NP_001372775.1 RNA binding protein fox-1 homolog 3 isoform 8
NM_001385847.1 NP_001372776.1 RNA binding protein fox-1 homolog 3 isoform 8

RBFOX3 Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (102 - 169)

Fox-1_C

Fox-1_C: Calcitonin gene-related peptide regulator C terminal (208 - 297)

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  • 312 a.a.
Protein Preferred Names Protein Names

RNA binding protein fox-1 homolog 3

RNA binding protein, fox-1 homolog 3

Related Diseases

Diseases Alias
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

Gangliocytoma

Ganglioneuroma

Gangliocytoma Of Central Nervous System

Occlusion Precerebral Artery

Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

Occlusion And Stenosis Of Precerebral Artery

Carotid Artery Occlusion

Occlusion And Stenosis Of Carotid Artery

Cerebral Artery Occlusion
Central Neurocytoma

Neurocytoma

Neurolipocytoma

Neurocytoma Central

Dysembryoplastic Neuroepithelial Tumor

Dysembryoplastic Neuroepithelial Tumour

Dysembryoplastic Neuroepithelial Neoplasm

Dnet

Clear Cell Ependymoma

Cellular Ependymoma

Cerebellar Liponeurocytoma

Lipomatous Medulloblastoma

Central Neurocytoma

Spinal Cord Oligodendroglioma

Oligodendroglioma Of Spinal Cord

Well Differentiated Spinal Cord Oligodendroglioma

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Hypertryptophanemia

HYPTRP

Hypertryptophanemia, Familial

Familial Hypertryptophanemia

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck

Cauda Equina Neoplasm

Tumor Of The Cauda Equina

Neoplasm Of Cauda Equina

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Cerebrum Cancer

Cerebral Cancer

Neoplasm Of Cerebrum

Tumor Of Cerebrum

Malignant Neoplasm Of Cerebrum

Encephalomalacia
Macular Degeneration, Age-Related, 14

Age Related Macular Degeneration 14

ARMD14

Macular Degeneration, Age-Related, 14, Reduced Risk Of

Macular Degeneration, Age-Related, Type 14

Supratentorial Cancer

Supratentorial Neoplasms

Brain Neoplasm, Supratentorial

Malignant Supratentorial Tumor

Cancer, Supratentorial

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Cerebrovascular Disease

Cerebrovascular Disorder

Cerebrovascular Accident

Cerebrovascular Disorders

Cva

Stroke

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Specific Developmental Disorder
Disease Of Mental Health

Mental Health

Mental Disorders

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Intracranial Cavernous Angioma

Intracranial Cavernoma

Intracranial Cavernous Hemangioma

Intracranial Structure Hemangioma

Angioma Of Intracranial Structure

Hemangioma Of Intracranial Structure

Hemangioma Of Intracranial Structures

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Syndromic Intellectual Disability
Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Saccular Cerebral Aneurysm

Aneurysm, Intracranial Berry

Aneurysmal Subarachnoid Hemorrhage

Aneurysm, Intracranial Berry, 1

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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

Orthologs Information

Species Symbol Source ID
Mus musculus RBFOX3 MGD MGI:106368
Canis familiaris RBFOX3 VGNC VGNC:45400
Bos taurus RBFOX3 VGNC VGNC:33779
Felis catus RBFOX3 VGNC VGNC:64517
Rattus norvegicus RBFOX3 RGD RGD:1560070
Macaca mulatta RBFOX3 VGNC VGNC:76550