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This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Mu... See more...
Aliases for RFX3 Gene
Aliases for RFX3 Gene
External Ids for RFX3 Gene
- HGNC: 9984
- Entrez Gene: 5991
- Ensembl: ENSG00000080298
- OMIM: 601337
- UniProtKB: P48380
Previous GeneCards Identifiers for RFX3 Gene
- GC09M003378
- GC09M003205
Summaries for RFX3 Gene
-
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
GeneCards Summary for RFX3 Gene
RFX3 (Regulatory Factor X3) is a Protein Coding gene. Diseases associated with RFX3 include Cellular Ependymoma and Visceral Heterotaxy. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is RFX2.
UniProtKB/Swiss-Prot Summary for RFX3 Gene
-
Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).
Additional gene information for RFX3 Gene
- HGNC(9984)
- Entrez Gene(5991)
- Ensembl(ENSG00000080298)
- OMIM(601337)
- UniProtKB(P48380)
- Open Targets Platform(ENSG00000080298)
- Monarch Initiative
- Search for RFX3 at DataMed
- Search for RFX3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RFX3 Gene
Genomics for RFX3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RFX3 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH09J003523 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | 0.0 | -25 | 6.7 | SP1 HNRNPL CREB1 ZNF629 PRDM10 REST RFX1 SOX13 NFKBIZ POLR2A | RFX3 RFX3-AS1 piR-48209-683 GLIS3 | |
| GH09J003473 | Promoter/Enhancer | 0.7 | EPDnew ENCODE | 600.2 | +52.9 | 52918 | 0.2 | SPI1 MAX CTCF | piR-37472-010 RFX3 lnc-KCNV2-7 PUM3 | |
| GH09J002630 | Enhancer | 0.6 | Ensembl ENCODE | 11.9 | +896.3 | 896328 | 0.8 | ZNF157 ZNF316 MAFF MAFK MAFG EMSY | RFX3 PUM3 piR-54979 VLDLR VLDLR-AS1 KCNV2 | |
| GH09J004499 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 6.1 | -975.2 | -975205 | 3.8 | REST SP1 FOXA2 ATF3 YY1 GABPA ZBTB33 JUND NFIC NFIB | RFX3 SLC1A1 piR-57176-628 PLPP6 | |
| GH09J003507 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 2.4 | +17.7 | 17680 | 3.1 | PRDM10 RFX1 PRDM1 RELA ZSCAN4 ZNF24 IKZF2 BRD9 ZNF501 TRIM22 | RFX3 lnc-KCNV2-9 lnc-KCNV2-8 PUM3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RFX3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RFX3
- Top Transcription factor binding sites by QIAGEN in the RFX3 gene promoter:
-
- AREB6
- C/EBPalpha
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- FOXD3
- Nkx2-5
Genomic Locations for RFX3 Gene
Genomic Locations for RFX3 Gene
- chr9:3,218,297-3,526,529
- (GRCh38/hg38)
- Size:
- 308,233 bases
- Orientation:
- Minus strand
- chr9:3,218,297-3,526,004
- (GRCh37/hg19)
- Size:
- 307,708 bases
- Orientation:
- Minus strand
Genomic View for RFX3 Gene
Genes around RFX3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p24.2 by HGNC
- 9p24.2 by Entrez Gene
- 9p24.2 by Ensembl
RFX3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RFX3 Gene
Proteins for RFX3 Gene
-
Protein details for RFX3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48380-RFX3_HUMAN
- Recommended name:
- Transcription factor RFX3
- Protein Accession:
- P48380
- A8K0H5
- D3DRH8
- D3DRH9
- Q5JTL7
- Q5JTL8
- Q6NW13
- Q8WTU4
- Q95HL5
- Q95HL6
Protein attributes for RFX3 Gene
- Size:
- 749 amino acids
- Molecular mass:
- 83530 Da
- Quaternary structure:
-
- Heterodimer; heterodimerizes with RFX1 and RFX2, and RFX6.
Protein Expression for RFX3 Gene
Post-translational modifications for RFX3 Gene
Other Protein References for RFX3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006716903.1
- XP_006716906.1
- XP_006716907.1
- XP_006716910.1
- XP_011516300.1
- XP_011516301.1
- XP_011516303.1
- XP_016870489.1
- XP_016870490.1
- XP_016870491.1
- XP_024303398.1
- XP_024303399.1
- XP_024303400.1
- XP_024303401.1
- XP_024303402.1
- XP_024303403.1
- NP_001269045.1
- NP_001269046.1
- NP_001364928.1
- NP_002910.1
- NP_602304.1
Antibody Products
- LifeSpan BioSciences RFX3 Antibody
- G Biosciences Immunotag™ RFX3 Antibody
- Creative Diagnostics Anti-RFX3 monoclonal antibody, clone 4G8
- Creative Biolabs Mouse Anti-RFX3 Recombinant Antibody (1D11)
- Novus Biologicals Antibodies for RFX3
-
Abcam antibodies for RFX3
- Invitrogen Antibodies for RFX3 (AFLGC-RFX3)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RFX3
- Origene Custom Protein Services for RFX3
- antibodies-online: Show 4 available RFX3 Proteins ranked by validation data
- Compare Top RFX3 Proteins
-
Quality Products:
-
Abcam proteins for RFX3
Assay Products
- antibodies-online: Show 2 available RFX3 Elisa Kits ranked by validation data
- Compare Top RFX3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RFX3 Gene
Domains & Families for RFX3 Gene
Gene Families for RFX3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for RFX3 Gene
- InterPro:
- Blocks:
-
- DNA-binding RFX
- RFX1 transcription activation region
- ProtoNet:
Suggested Antigen Peptide Sequences for RFX3 Gene
- GenScript: Design optimal peptide antigens:
-
- Regulatory factor X, 3 (Influences HLA class II expression) (B1ANP5_HUMAN)
- Regulatory factor X, 3 (Influences HLA class II expression) (B1ANP6_HUMAN)
- Regulatory factor X, 3 (Influences HLA class II expression) (B1ANP7_HUMAN)
- Regulatory factor X, 3 (Influences HLA class II expression) (Q5JTM0_HUMAN)
- Regulatory factor X, 3 (Influences HLA class II expression) (Q5JTM1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P48380- Family:
-
- Belongs to the RFX family.
Function for RFX3 Gene
Molecular function for RFX3 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).
- GENATLAS Biochemistry:
- transactivating DNA binding regulator 3,involved in MHC class II expression,binding the MHC promoter box X
Phenotypes From GWAS Catalog for RFX3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 20148032 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | TAS,ISM | 19274049 |
| GO:0003677 | DNA binding | TAS | 8600444 |
| GO:0003700 | DNA-binding transcription factor activity | NAS,IBA | 21873635 |
Phenotypes for RFX3 Gene
- MGI mutant phenotypes for RFX3:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for RFX3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RFX3 - Select products 50% OFF >
- * RFX3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RFX3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFX3
-
Santa Cruz Biotechnology (SCBT) CRISPR for RFX3
miRNA for RFX3 Gene
- miRTarBase miRNAs that target RFX3
-
- hsa-miR-335-5p (MIRT017663)
- hsa-miR-148b-3p (MIRT019371)
- hsa-miR-128-3p (MIRT021982)
- hsa-miR-615-3p (MIRT039992)
- hsa-miR-342-3p (MIRT043701)
- hsa-miR-4698 (MIRT441716)
- hsa-miR-892c-5p (MIRT441717)
- hsa-miR-4428 (MIRT441718)
- hsa-miR-3646 (MIRT441719)
- hsa-miR-3662 (MIRT441720)
- mmu-miR-5101 (MIRT589046)
- mmu-miR-129-5p (MIRT589047)
- mmu-miR-669b-5p (MIRT589048)
- mmu-miR-694 (MIRT589049)
- mmu-miR-466k (MIRT591025)
- mmu-miR-466l-5p (MIRT591026)
- mmu-miR-466i-5p (MIRT591027)
- mmu-miR-466d-5p (MIRT591028)
- mmu-miR-297b-5p (MIRT591029)
- mmu-miR-297a-5p (MIRT591030)
- mmu-miR-297c-5p (MIRT591031)
- mmu-miR-511-3p (MIRT591032)
- mmu-miR-1198-5p (MIRT591033)
- mmu-miR-466p-5p (MIRT591034)
- mmu-miR-1187 (MIRT591035)
- mmu-miR-466a-5p (MIRT591036)
- mmu-miR-466e-5p (MIRT591037)
- mmu-miR-466f (MIRT592130)
- hsa-miR-1264 (MIRT654271)
- hsa-miR-4668-5p (MIRT666589)
- hsa-miR-6738-3p (MIRT666590)
- hsa-miR-544a (MIRT666591)
- hsa-miR-3977 (MIRT666592)
- hsa-miR-6071 (MIRT666593)
- hsa-miR-6828-3p (MIRT666594)
- hsa-miR-222-5p (MIRT666595)
Targeted motifs for RFX3 Gene
HOMER Transcription Factor Regulatory Elements motif RFX3
- Consensus sequence: CGGTTGCCATGGCAAC Submotif: canonical Cell Type: K562 GEO ID: SRA012198
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RFX3
- Browse OriGene Inhibitory RNA Products For RFX3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFX3
Clone Products
- Applied Biological Materials (abm): Clones for RFX3 - Select products 50% OFF >
- * RFX3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210451
- MG225016
- MR210451
- MR210451L3
- MR210451L4
- MR225016
- MR225016L3
- MR225016L4
- RC201137
- RC201137L1
- RC201137L2
- RC201137L3
- RC201137L4
- RC215255
- RC215255L3
- RC215255L4
- RC238076
- RC239472
- RG201137
- RG215255
- RR206046
- RR206046L3
- RR206046L4
- MR210451L3V
- MR210451L4V
- MR225016L3V
- MR225016L4V
- RC201137L1V
- RC201137L2V
- RC201137L3V
- RC201137L4V
- RC215255L3V
- RC215255L4V
- RR206046L3V
- RR206046L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RFX3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFX3
Cell Line Products
-
Horizon Cell Lines for RFX3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for RFX3 Gene
Localization for RFX3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RFX3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 3 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| cytosol | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA,ISA | -- |
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005634 | nucleus | TAS,IC | 12411430 |
| GO:0005667 | transcription factor complex | IC | 20413507 |
Pathways & Interactions for RFX3 Gene
Interacting Proteins for RFX3 Gene
Selected Interacting proteins:
P48380-RFX3_HUMAN
ENSP00000371434
for RFX3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RFX3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | ISS | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007368 | determination of left/right symmetry | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for RFX3 Gene
Transcripts for RFX3 Gene
mRNA/cDNA for RFX3 Gene
- 5 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302303 1522 nts (view in UCSC)
- ENST00000358730 2971 nts (view in UCSC)
- ENST00000381984 364 nts (view in UCSC)
- ENST00000382004 9307 nts (view in UCSC)
- ENST00000420720 492 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RFX3 - Select products 50% OFF >
- * RFX3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RFX3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFX3
-
Santa Cruz Biotechnology (SCBT) CRISPR for RFX3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RFX3
- Browse OriGene Inhibitory RNA Products For RFX3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFX3
Clone Products
- Applied Biological Materials (abm): Clones for RFX3 - Select products 50% OFF >
- * RFX3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210451
- MG225016
- MR210451
- MR210451L3
- MR210451L4
- MR225016
- MR225016L3
- MR225016L4
- RC201137
- RC201137L1
- RC201137L2
- RC201137L3
- RC201137L4
- RC215255
- RC215255L3
- RC215255L4
- RC238076
- RC239472
- RG201137
- RG215255
- RR206046
- RR206046L3
- RR206046L4
- MR210451L3V
- MR210451L4V
- MR225016L3V
- MR225016L4V
- RC201137L1V
- RC201137L2V
- RC201137L3V
- RC201137L4V
- RC215255L3V
- RC215255L4V
- RR206046L3V
- RR206046L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RFX3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFX3
Relevant External Links for RFX3 Gene
- GeneLoc Exon Structure for
- RFX3
Expression for RFX3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Blymphocyte (30.8), Testis (16.6), Fetal Brain (12.3), and CD8 Tcells (9.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RFX3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RFX3
SOURCE GeneReport for Unigene cluster for RFX3 Gene:
Hs.136829Evidence on tissue expression from TISSUES for RFX3 Gene
- Nervous system(4.5)
- Muscle(4.3)
- Lung(2.1)
Primer Products
-
OriGene qPCR primer pairs for RFX3
-
OriGene qPCR primer pairs and template standards for RFX3
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFX3 Gene
Orthologs for RFX3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | RFX3 31 |
|
OneToOne | |
| LOC538070 30 |
|
||||
| Chimpanzee (Pan troglodytes) |
Mammalia | RFX3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | RFX3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RFX3 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RFX3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rfx3 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RFX3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RFX3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rfx3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rfx3 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003943 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rfx 30 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | daf-19 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4580 30 |
|
- Species where no ortholog for RFX3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for RFX3 Gene
- ENSEMBL:
- Gene Tree for RFX3 (if available)
- TreeFam:
- Gene Tree for RFX3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RFX3: view image
Paralogs for RFX3 Gene
(3) SIMAP similar genes for RFX3 Gene using alignment to 9 proteins:
- RFX3_HUMAN
- A9Z1Z2_HUMAN
- F6UGA0_HUMAN
- F6USP3_HUMAN
- F6UV76_HUMAN
- F6XM74_HUMAN
- H0Y790_HUMAN
- H0Y7W5_HUMAN
- H0Y7Z4_HUMAN
Variants for RFX3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RFX3 Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 768277 | Benign: not provided | 3,257,053(-) | A/G | SYNONYMOUS_VARIANT | |
| 776762 | Likely Benign: not provided | 3,248,035(-) | G/A | SYNONYMOUS_VARIANT | |
| 778032 | Benign: not provided | 3,228,838(-) | G/A | INTRON_VARIANT | |
| 778377 | Benign: not provided | 3,257,122(-) | C/T | SYNONYMOUS_VARIANT | |
| 788672 | Benign: not provided | 3,271,018(-) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1255308 | CNV | insertion | 17803354 |
| esv2477708 | CNV | deletion | 19546169 |
| esv2659402 | CNV | deletion | 23128226 |
| esv2762782 | CNV | loss | 21179565 |
| esv3331489 | CNV | insertion | 20981092 |
| esv3544440 | CNV | deletion | 23714750 |
| esv3619307 | CNV | loss | 21293372 |
| esv3619310 | CNV | loss | 21293372 |
| esv3619312 | CNV | loss | 21293372 |
| nsv1017474 | CNV | gain | 25217958 |
| nsv1077086 | CNV | deletion | 25765185 |
| nsv1136013 | CNV | deletion | 24896259 |
| nsv1148671 | CNV | deletion | 26484159 |
| nsv415859 | CNV | insertion | 16902084 |
| nsv416089 | CNV | insertion | 16902084 |
| nsv466091 | CNV | loss | 19166990 |
| nsv522711 | CNV | gain | 19592680 |
| nsv613145 | CNV | loss | 21841781 |
| nsv613146 | CNV | loss | 21841781 |
| nsv613147 | CNV | loss | 21841781 |
| nsv950831 | CNV | duplication | 24416366 |
| nsv956145 | CNV | deletion | 24416366 |
| nsv972292 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
5.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.92;
19.15% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RFX3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFX3 Gene
Disorders for RFX3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cellular ependymoma |
|
|
| visceral heterotaxy |
|
|
| primary ciliary dyskinesia |
|
|
Search RFX3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RFX3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RFX3 Gene
Publications for RFX3 Gene
- RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. (PMID: 8289803) Reith W … Mach B (Molecular and cellular biology 1994) 2 3 4
- Rfx6 directs islet formation and insulin production in mice and humans. (PMID: 20148032) Smith SB … German MS (Nature 2010) 3 4
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for RFX3 Gene
- Custom Antibody Services
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- MG210451
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Browse Antibodies
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- Browse Primary Antibodies
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- Invitrogen Antibodies for RFX3 (AFLGC-RFX3)
- VectorBuilder Custom and pre-made DNA vectors for RFX3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RFX3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RFX3 (ie. knockout, knockin, CRISPRa, CRISPRi)
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- VectorBuilder Stable cell line generation for RFX3
- antibodies-online: Show 18 available RFX3 Antibodies ranked by validation data
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- antibodies-online: Show 2 available RFX3 Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 4 available RFX3 Proteins ranked by validation data
- Compare Top RFX3 Proteins
- Quality Products:
- Horizon Cell Lines for RFX3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RFX3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RFX3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RFX3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RFX3
Sources for RFX3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (11) Cell Signaling Technology
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- (30) HomoloGene
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- (33) SGD
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- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (43) HuGE
- (44) Atlas
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- (49) Leiden
- (50) miRBase
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
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- (134) Gene ORGANizer
- (135) abm
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- (139) DataMed
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- (143) Applied Biosystems
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- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB