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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RBFOX3 Gene

protein-coding GIFtS: 38
GCID: GC17M077086

RNA binding protein, fox-1 homolog (C. elegans) 3

Explore 13 diseases affiliated with
RBFOX3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
RNA Binding Protein, Fox-1 Homolog (C. Elegans) 3¹ ²		FOX3²
FOX-3¹ ²		NEUN²
HRNBP3¹ ²		Hexaribonucleotide Binding Protein 3²
Fox-1 Homolog C² ³		Neuronal Nuclei²
NeuN¹		RNA Binding Protein Fox-1 Homolog 3²

External Ids:	HGNC: 27097¹	Entrez Gene: 146713²	Ensembl: ENSG00000167281⁷	UniProtKB: A6NFN3³

Export aliases for RBFOX3 gene to outside databases

Previous GC identifer: GC17M072508

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RFOX3_HUMAN, A6NFN3

Function: RNA-binding protein that regulates alternative splicing events (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for RBFOX3
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBFOX3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3

RBFOX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBFOX3 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M077086: view genomic region (about GC identifiers)

Start:	77,085,427 bp from pter	End:	77,613,550 bp from pter
Size:	528,124 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RFOX3_HUMAN, A6NFN3 (See protein sequence)

Recommended Name: RNA binding protein fox-1 homolog 3

Size: 312 amino acids; 33873 Da

Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)

Secondary accessions: B4DEG6

Explore the universe of human proteins at neXtProt for RBFOX3: NX_A6NFN3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A6NFN3

RBFOX3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001076044.1

ENSEMBL proteins:

ENSP00000464186 ENSP00000463964 ENSP00000463653 ENSP00000465367 ENSP00000468693

ENSP00000462007 ENSP00000467872 ENSP00000464946 ENSP00000408395 ENSP00000393262

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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0043025	neuronal cell body	IEA	--

RBFOX3 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RBFOX3 for domains About GeneDecksing

4 InterPro domains/families:

IPR012677 Nucleotide-bd_a/b_plait

IPR025670 Fox-1_C_dom

IPR017325 RNA-bd_Fox-1

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry A6NFN3

ProtoNet protein and cluster: A6NFN3

UniProtKB/Swiss-Prot: RFOX3_HUMAN, A6NFN3

Similarity: Contains 1 RRM (RNA recognition motif) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RFOX3_HUMAN, A6NFN3

Function: RNA-binding protein that regulates alternative splicing events (By similarity)

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003677	DNA binding	IEA	--
GO:0003723	RNA binding	IEA	--
GO:0005515	protein binding	--	--

RBFOX3 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Rbfox3):

behavior/neurological

homeostasis/metabolism

integument

RBFOX3 for phenotypes About GeneDecksing

Animal Models:

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RBFOX3

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	--
GO:0006397	mRNA processing	IEA	--
GO:0008380	RNA splicing	IEA	--
GO:0043484	regulation of RNA splicing	--	--

RBFOX3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for RBFOX3 gene (2 alternative transcripts):

NM_001025448.1 NM_001082575.1

Unigene Cluster for RBFOX3:

RNA binding protein, fox-1 homolog (C. elegans) 3

Hs.135229 [show with all ESTs]

Unigene Representative Sequence: AK128131

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000583458(uc010dhs.3) ENST00000582043 ENST00000581393 ENST00000580155

ENST00000578998 ENST00000582880 ENST00000582894 ENST00000584778(uc010wua.2)

ENST00000580508 ENST00000582139 ENST00000578887 ENST00000582344 ENST00000415831

ENST00000453134

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		hsa-miR-2052 hsa-miR-19b-2* hsa-miR-429 hsa-miR-938 hsa-let-7a-2* hsa-miR-29b-1* hsa-miR-200b hsa-miR-2113

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Additional cDNA sequence:

AK054893.1 AK124644.1 AK128131.1 AK293617.1 AK293905.1 BC093713.1

11 DOTS entries:

DT.101978972 DT.431447 DT.442970 DT.100751980 DT.87001191 DT.95343338 DT.75125698 DT.40130133

DT.100751979 DT.120898866 DT.120898787

2 AceView cDNA sequences:

AK054893 AI382882

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RBFOX3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGTGTCAAA

About this image

RBFOX3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Neural stem cells (Fetal Stem / Progenitor Cell)

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RBFOX3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBFOX3

SOURCE GeneReport for Unigene cluster: Hs.135229

SABiosciences Custom PCR Arrays for RBFOX3

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RBFOX3 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	RBFOX3⁶	--	71(a)	1 ↔ 1	2(101603247-101617051)
zebrafish (Danio rerio)	Actinopterygii	LOC100330510¹	RNA binding protein fox-1 homolog 3-like	77.85(n) 85.99(a)		100330510 XM_002663992.2 XP_002664038.2
fruit fly (Drosophila melanogaster)	Insecta	A2bp1⁶	Ataxin-2 binding protein 1	13(a)	1 → many	3L(10474512-10587112)
worm (Caenorhabditis elegans)	Secernentea	fox-1⁶ asd-1⁶ (see all 3)	Sex determination protein fox-1 Alternative Splicing Defective family member (asd-... (see all 3)	23(a) 20(a) (see all 3)	many ↔ many many ↔ many (see all 3)	X(2445794-2450500) III(4197257-4202263)

ENSEMBL Gene Tree for RBFOX3 (if available)
TreeFam Gene Tree for RBFOX3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RBFOX3 gene

RBFOX1² RBFOX2²

7 SIMAP similar genes for RBFOX3 using alignment to 7 protein entries: RFOX3_HUMAN (see all proteins):

DKFZp547L059 A2BP1 RBFOX1 RBFOX2 RBM9 HNRNPA1

SRSF5

RBFOX3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6501280^1,2	C,F,A	--	77085196(+)	`CCAGGC/TAGCAC`	1	--	int¹		7		NA WA CSA EA	365
rs8075734^1,2	C,F,A	--	77085254(+)	`GCAGAC/GGACCA`	1	--	int¹		7		NA WA CSA EA	365
rs191038613^1,2		--	77085510(+)	`CAGAAC/TGGTAA`	1	--	ut3¹		0	--	--	--	--
rs183199058^1,2		--	77085565(+)	`AGTCGA/GGGGGT`	1	--	ut3¹		0	--	--	--	--
rs188084041^1,2		--	77085649(+)	`CAGGGC/TGTGGG`	1	--	ut3¹		0	--	--	--	--
rs140656927^1,2		--	77085666(+)	`TACAAC/TGGGAA`	1	--	ut3¹		0	--	--	--	--
rs146453218^1,2		--	77085743(+)	`TGACAC/GTTCAT`	1	--	ut3¹		0	--	--	--	--
rs3826313^1,2	C,F	--	77085855(-)	`TGGGAG/AGAGCA`	1	--	ut3¹		8		NA WA CSA EA	367
rs55835894^1,2	C	--	77085911(+)	`ACCTGC/TCTTGG`	1	--	ut3¹		3		CSA WA NA	240
rs140842219^1,2		--	77085988(+)	`GTGCCC/TGTCCA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RBFOX3 (77085427 - 77335427 bp, first 250kb of RBFOX3)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RBFOX3: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RBFOX3 for disorders About GeneDecksing

13 diseases for RBFOX3: About MalaCards

central neurocytoma cerebral artery occlusion cerebrovascular accident neuronitis

brain ischemia malignant glioma huntington's disease brain disease

hermaphroditism conjunctivitis pharyngitis ischemia

cerebritis

4 diseases from the University of Copenhagen DISEASES database for RBFOX3:

Cerebrovascular accident Neurodegenerative disease Brain ischemia Central neurocytoma

Export disorders for RBFOX3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RBFOX3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RBFOX3)

Utopia: connect your pdf to the dynamic
world of online information

Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. (PubMed id 16260614)^{1, 3} Underwood J.G....Black D.L. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Identification of neuronal nuclei (NeuN) as Fox-3, a new member of the Fox-1 gene family of splicing factors. (PubMed id 19713214)¹ Kim K.K....Kawamoto S. (2009)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (2001)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 146713	HGNC: 27097	AceView: LOC146713	Ensembl:ENSG00000167281	euGenes: HUgn146713
ECgene: RBFOX3	H-InvDB: RBFOX3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for RBFOX3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RBFOX3 gene:
Search GeneIP for patents involving RBFOX3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	OriGene Antibodies for RBFOX3		OriGene shRNA RFP for RBFOX3
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RBFOX3
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inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RBFOX3

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RBFOX3 gene at Home site.

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RBFOX3 Gene

RNA binding protein, fox-1 homolog (C. elegans) 3

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RBFOX3 Gene

RNA binding protein, fox-1 homolog (C. elegans) 3

Aliasesfor RBFOX3 gene

Summariesfor RBFOX3 gene

Genomic Viewsfor RBFOX3 gene

Proteinsfor RBFOX3 gene

Protein Domains /Familiesfor RBFOX3 gene

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Aliases
for RBFOX3 gene

Summaries
for RBFOX3 gene

Genomic Views
for RBFOX3 gene

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for RBFOX3 gene

Protein Domains /
Families
for RBFOX3 gene

Function
for RBFOX3 gene

Pathways & Interactions
for RBFOX3 gene

Drugs & Compounds
for RBFOX3 gene

Transcripts
for RBFOX3 gene

Expression
for RBFOX3 gene

Orthologs
for RBFOX3 gene

Paralogs
for RBFOX3 gene

Genomic Variants
for RBFOX3 gene

Disorders / Diseases
for RBFOX3 gene

Publications
for RBFOX3 gene

Intellectual Property
for RBFOX3 gene

Products
for RBFOX3 gene