RBFOX3 - RNA binding fox-1 homolog 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 146713

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)

  • 0
  • 100
  • 200
  • 312 a.a.
Protein Preferred Names Protein Names

RNA binding protein fox-1 homolog 3

  • RNA binding protein, fox-1 homolog 3

RBFOX3 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P80241 NeuN Antibody (YA272) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat
HY-P83783 NeuN Antibody (YA3480) WB, ICC/IF, FC, ELISA Human, Mouse
HY-P83783A NeuN Antibody (YA3480)(PBS only) WB, ICC/IF, FC, ELISA Human, Mouse
HY-P85858 NeuN Antibody (YA5550) WB, IHC-P, ICC/IF, ELISA Human
HY-P86090 NeuN Antibody (YA5782) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

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
Others RBFOX3 NCBI