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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RFNG Gene

protein-coding   GIFtS: 55
GCID: GC17M080005

RFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase

(Previous names: radical fringe (Drosophila) homolog, radical fringe homolog...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase1 2     Radical Fringe Homolog (Drosophila)1
O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase2 3     Beta-1,3-N-Acetylglucosaminyltransferase Radical Fringe2
EC 2.4.1.2223 8     Radical Fringe Homolog2
Radical Fringe (Drosophila) Homolog1     

External Ids:    HGNC: 99741   Entrez Gene: 59862   Ensembl: ENSG000001697337   OMIM: 6025785   UniProtKB: Q9Y6443   

Export aliases for RFNG gene to outside databases

Previous GC identifers: GC17M079429 GC17M9J0047 GC17M080541 GC17M077599 GC17U900606 GC17M075405


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

GeneCards Summary for RFNG Gene: 
RFNG (RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) is a protein-coding gene. Diseases associated with RFNG include alagille syndrome, and neuronitis, and among its related super-pathways are Notch Signaling Pathway and Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants. GO annotations related to this gene include O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity and molecular_function. An important paralog of this gene is LFNG.

UniProtKB/Swiss-Prot: RFNG_HUMAN, Q9Y644
Function: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like
repeats in the extracellular domain of Notch molecules. May be involved in limb formation and in neurogenesis (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010663.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RFNG gene promoter:
         Max   AP-1   ATF-2   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RFNG promoter sequence
   Search SABiosciences Chromatin IP Primers for RFNG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RFNG


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

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

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M080005:  view genomic region     (about GC identifiers)

Start:
80,005,778 bp from pter      End:
80,009,707 bp from pter
Size:
3,930 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RFNG_HUMAN, Q9Y644 (See protein sequence)
Recommended Name: Beta-1,3-N-acetylglucosaminyltransferase radical fringe  
Size: 331 amino acids; 36424 Da
Cofactor: Manganese (By similarity)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
Secondary accessions: O00588

Explore the universe of human proteins at neXtProt for RFNG: NX_Q9Y644

Explore proteomics data for RFNG at MOPED 

4/11 DME Specific Peptides for RFNG (Q9Y644) (see all 11)
 DDDNYVN  RLPDDCT  FIAVKTT  LQQVTLS 

RFNG Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

RFNG Protein Expression
REFSEQ proteins: NP_002908.1  
ENSEMBL proteins: 
 ENSP00000307971   ENSP00000402931   ENSP00000463623  
Reactome Protein details: Q9Y644
Human Recombinant Protein Products for RFNG: 
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OriGene Protein Over-expression Lysate for RFNG
OriGene Custom MassSpec 
OriGene Custom Protein Services for RFNG
GenScript Custom Purified and Recombinant Proteins Services for RFNG
Novus Biologicals RFNG Protein
Novus Biologicals RFNG Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for RFNG 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region NAS10341080
GO:0016020membrane ----
GO:0030173integral to Golgi membrane IEA--

RFNG for ontologies           About GeneDecksing



RFNG Antibody Products: 
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R&D Systems Antibodies for RFNG
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Novus Biologicals RFNG Antibodies
Abcam antibodies for RFNG
Cloud-Clone Corp. Antibodies for RFNG 
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LSBio Antibodies in human, mouse, rat for RFNG 

Assay Products for RFNG: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for RFNG
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for RFNG
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for RFNG 
Cloud-Clone Corp. CLIAs for RFNG


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
B3GT: Beta 3-glycosyltransferases

2 InterPro protein domains:
 IPR017374 Fringe
 IPR003378 Fringe-like

Graphical View of Domain Structure for InterPro Entry Q9Y644

ProtoNet protein and cluster: Q9Y644

1 Blocks protein domain: IPB003378 Fringe-like

UniProtKB/Swiss-Prot: RFNG_HUMAN, Q9Y644
Similarity: Belongs to the glycosyltransferase 31 family


RFNG for domains           About GeneDecksing


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

Molecular Function:

     UniProtKB/Swiss-Prot Summary: RFNG_HUMAN, Q9Y644
Function: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like
repeats in the extracellular domain of Notch molecules. May be involved in limb formation and in neurogenesis (By
similarity)
Catalytic activity: Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated
protein acceptor

     Genatlas biochemistry entry for RFNG:
radical fringe,putative regulator of developmental processes through regulation of the sensitivity of NOTCH
receptor genes for their specific ligands,essential mediator of somite segmentation and patterning

     Enzyme Number (IUBMB): EC 2.4.1.2221 2

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0016757transferase activity, transferring glycosyl groups ----
GO:0033829O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IEA--
GO:0046872metal ion binding IEA--
     
RFNG for ontologies           About GeneDecksing


Phenotypes:
     7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rfng):
 craniofacial  digestive/alimentary  embryogenesis  limbs/digits/tail  mortality/aging 
 normal  skeleton 

RFNG for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for RFNG: Rfngtm2Tfv Rfngtm2.1Tfv Rfngtm1Grid

   inGenious Targeting Laboratory - Custom generated mouse model solutions for RFNG 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RFNG

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFNG 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFNG 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFNG
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RFNG
SwitchGear 3'UTR luciferase reporter plasmidRFNG 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for RFNG
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFNG

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for RFNG
Sirion Biotech Customized adenovirus for overexpression of RFNG

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for RFNG (see all 5)
OriGene ORF clones in mouse, rat for RFNG
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: RFNG (NM_002917)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFNG
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFNG
Sirion Biotech Customized lentivirus for stable overexpression of RFNG 
                     Customized lentivirus expression plasmids for stable overexpression of RFNG 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for RFNG
Search LifeMap BioReagents cell lines for RFNG
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFNG


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for RFNG About   (see all 7)                                                                                              See pathways by source

SuperPathContained pathways About
1Notch signaling pathway
Notch signaling pathway0.84
Notch Signaling Pathway0.84
2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
Signaling by NOTCH0.74
Notch Signaling0.31
3Pre-NOTCH Processing in Golgi
Pre-NOTCH Expression and Processing0.55
Pre-NOTCH Processing in Golgi0.55
4Signaling by GPCR
Signal Transduction0.55
5Development NOTCH1-mediated pathway for NF-KB activity modulation
Development Notch Signaling Pathway0.54

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for RFNG
    Development Notch Signaling Pathway

1 R&D Systems Pathway for RFNG
    Notch Signaling Pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RFNG
    Notch Signaling

1 GeneGo (Thomson Reuters) Pathway for RFNG
    Development Notch Signaling Pathway

1 BioSystems Pathway for RFNG
    Notch Signaling Pathway

4        Reactome Pathways for RFNG
    Pre-NOTCH Expression and Processing
Signaling by NOTCH
Pre-NOTCH Processing in Golgi
Signal Transduction


2         Kegg Pathways  (Kegg details for RFNG):
    Other types of O-glycan biosynthesis
Notch signaling pathway


RFNG for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RFNG

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/7 Interacting proteins for RFNG (ENSP000003079714) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000235396ENSP000004106744STRING: ENSP00000410674
NOTCH1ENSP000002775414STRING: ENSP00000277541
NOTCH3ENSP000002633884STRING: ENSP00000263388
JAG1ENSP000002549584STRING: ENSP00000254958
JAG2ENSP000003281694STRING: ENSP00000328169
About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007389pattern specification process IEA--
GO:0007399nervous system development IEA--
GO:0009887organ morphogenesis NAS10341080
GO:0030154cell differentiation IEA--
GO:0032092positive regulation of protein binding IEA--

RFNG for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RFNG

Search CenterWatch for drugs/clinical trials and news about RFNG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RFNG gene: 
NM_002917.1  

Unigene Cluster for RFNG:

RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Hs.569700  [show with all ESTs]
Unigene Representative Sequence: BC146805
12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000580793(uc002kdh.3) ENST00000583784(uc021ufl.1) ENST00000310496(uc002kdj.3)
ENST00000582478 ENST00000580953 ENST00000578676 ENST00000429557 ENST00000584838
ENST00000580928 ENST00000584515 ENST00000578356 ENST00000584463
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFNG
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RFNG
SwitchGear 3'UTR luciferase reporter plasmidRFNG 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for RFNG
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFNG
Clone
Products:
     
OriGene clones in human, mouse for RFNG (see all 5)
OriGene ORF clones in mouse, rat for RFNG
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: RFNG (NM_002917)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFNG
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFNG
Sirion Biotech Customized lentivirus for stable overexpression of RFNG 
                     Customized lentivirus expression plasmids for stable overexpression of RFNG 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for RFNG
OriGene qSTAR qPCR primer pairs in human, mouse for RFNG
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RFNG
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFNG
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFNG

Additional mRNA sequence: 

AF038196.1 AK094016.1 AK293568.1 AK302068.1 BC014495.1 BC050399.1 BC069034.1 BC080181.1 
BC146805.1 U94353.1 

13 DOTS entries:

DT.97845070  DT.100710916  DT.114386  DT.100713885  DT.100657159  DT.100814147  DT.100814151  DT.97836723 
DT.86838582  DT.86853991  DT.100814150  DT.91854062  DT.95168504 

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for RFNG (see all 12)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d
SP1:                          -     -     -                 -     -     -                             -                                                   
SP2:                                                                                                  -                                                   
SP3:                                                        -     -     -                             -                                                   
SP4:                                                        -     -     -                                                                                 
SP5:                                                        -     -     -                             -                                                   


ECgene alternative splicing isoforms for RFNG

(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

RFNG expression in normal human tissues (normalized intensities)      RFNG embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGGGAAATG
RFNG Expression
About this image


RFNG expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/2 selected tissues (see all 2) fully expand
 
 Brain (Nervous System)    fully expand to see all 12 entries
         Thalamus
         Septum   
 
 Spinal Cord (Nervous System)    fully expand to see all 2 entries
         Ventral Horn   

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

SOURCE GeneReport for Unigene cluster: Hs.569700
    SABiosciences Expression via Pathway-Focused PCR Array including RFNG: 
          Notch Signaling Pathway in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for RFNG
OriGene qSTAR qPCR primer pairs in human, mouse for RFNG
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RFNG
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFNG
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFNG
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFNG

(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 RFNG gene from 5/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rfng1 , 5 RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase1, 5 81.53(n)1
83.59(a)1
  11 (84.53 cM)5
197191  NM_009053.21  NP_033079.11 
 1207807465 
chicken
(Gallus gallus)
Aves RFNG1 RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 69.86(n)
72.22(a)
  395789  NM_204947.1  NP_990278.1 
lizard
(Anolis carolinensis)
Reptilia RFNG6
Uncharacterized protein
46(a)
1 ↔ 1
2(118178712-118188604)
zebrafish
(Danio rerio)
Actinopterygii rfng1 RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 66.24(n)
68.37(a)
  414848  NM_001045336.1  NP_001038801.1 
fruit fly
(Drosophila melanogaster)
Insecta fng1 fringe 54.99(n)
48.74(a)
  40314  NM_079467.2  NP_524191.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for RFNG gene
LFNG2  MFNG2  
2 SIMAP similar genes for RFNG using alignment to 5 protein entries:     RFNG_HUMAN (see all proteins):
LFNG    MFNG

RFNG for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/116 SNPs in RFNG are shown (see all 116)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1380773511,2
C--80005281(+) TCCACA/GCGCGT 1 -- ds50010--------
rs1807151271,2
--80005285(+) CGCGCA/GTTATG 1 -- ds50010--------
rs1873884691,2
--80005343(+) ACCCAC/TGCACG 1 -- ds50010--------
rs1918638441,2
--80005419(+) ATGCAC/TGTACA 1 -- ds50010--------
rs1434323581,2
--80005420(+) TGCACA/GTACAC 1 -- ds50010--------
rs1837252581,2
--80005439(+) TCAATA/GTGTCC 1 -- ds50010--------
rs342644661,2
C,F--80005462(+) GTACAC/TGCCCA 1 -- ds50013Minor allele frequency- T:0.33NA 6
rs110779651,2
C,F,A,H--80005463(+) TACACG/ACCCAC 1 -- ds50019Minor allele frequency- A:0.28NA WA CSA EA 370
rs1904226741,2
--80005469(+) CCCACA/GCACAC 1 -- ds50010--------
rs99123771,2
C,F--80005477(+) CACCCA/GCCCTC 1 -- ds50011Minor allele frequency- G:0.02WA 118

HapMap Linkage Disequilibrium report for RFNG (80005778 - 80009707 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/30 variations for RFNG (see all 30):    About this table     
Variant IDTypeSubtypePubMed ID
dgv3353n71CNV Loss21882294
dgv3351n71CNV Loss21882294
nsv909188CNV Loss21882294
nsv909134CNV Loss21882294
dgv3350n71CNV Loss21882294
nsv909186CNV Loss21882294
dgv3349n71CNV Loss21882294
dgv3341n71CNV Loss21882294
dgv3352n71CNV Loss21882294
dgv3333n71CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602578    OMIM disorders: --

2 diseases for RFNG:    About MalaCards
alagille syndrome    neuronitis

1 disease from the University of Copenhagen DISEASES database for RFNG:
Alagille syndrome

RFNG for disorders           About GeneDecksing


Export disorders for RFNG 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)
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PubMed articles for RFNG gene integrated from 9 sources:
(articles sorted by number of sources associating them with RFNG)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. (PubMed id 9187150)1, 2, 3 Johnston S.H....Vogt T.F. (1997)
  2. Genomic structure, mapping, and expression analysis of the mammalian Lunatic, Manic, and Radical fringe genes. (PubMed id 10341080)1, 2 Moran J.L....Vogt T.F. (1999)
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
  5. 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)
  6. Radical fringe negatively modulates Notch signaling in postmitotic neurons of the rat brain. (PubMed id 11165380)1 Mikami T....Itoh N. (2001)
  7. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)
  8. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5986 HGNC: 9974 Ensembl:ENSG00000169733 euGenes: HUgn5986 ECgene: RFNG Kegg: 5986
H-InvDB: RFNG

(According to HUGE)
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  --

(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
NameDescription
PharmGKB entry for RFNG Pharmacogenomics, SNPs, Pathways
GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for RFNG gene:
Search GeneIP for patents involving RFNG

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



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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