RNF213 Gene
protein-coding GIFtS: 52
GCID: GC17P078235
|
|
ring finger protein 213(Previous names: chromosome 17 open reading frame 27, KIAA1618, moyamoya...)
(Previous symbols: C17orf27, KIAA1618, MYMY2)
| |
Aliases
for RNF213 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ring Finger Protein 2131 2 3 | | ALK Lymphoma Oligomerization Partner On Chromosome 172 3 | | C17orf271 2 3 | | Chromosome 17 Open Reading Frame 271 | | KIAA16181 2 3 | | Moyamoya Disease 21 | | MYMY21 2 | | E3 Ubiquitin-Protein Ligase RNF2132 | | NET571 2 | | Mysterin3 | | KIAA15541 3 | | EC 6.3.2.-3 | | ALO172 3 | | Mysterin3 | | MYSTR2 3 | | |
Export aliases for RNF213 gene to outside databasesPrevious GC identifers: GC17P075929 GC17P078313 GC17P073677 |
Summaries
for RNF213 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RNF213:
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger thatbinds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein alsocontains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoyadisease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic largecell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identifiedwith the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has beenidentified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. (providedby RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8Function: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity
Gene Wiki entry for RNF213
|
Genomic Views
for RNF213 gene
(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:
 SABiosciences Regulatory transcription factor binding sites in the RNF213 gene promoter:
HOXA9B HOXA9 Max1 GR Sp1 GR-beta C/EBPalpha FOXC1 GR-alpha Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RNF213
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF213 |
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: 17q25.3RNF213 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P078235: view genomic region
(about GC identifiers)
Start:
|
78,234,665 bp from pter |
End:
|
78,372,586 bp from pter |
Size:
|
137,922 bases |
Orientation:
|
plus strand |
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Proteins
for RNF213 gene
(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: RN213_HUMAN, Q63HN8 (See
protein sequence)Recommended Name: E3 ubiquitin-protein ligase RNF213 Size: 5207 amino acids; 591407 Da
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAH32220.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAB13444.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAB14708.1;Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15212.1; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=BAB15280.1; Type=Erroneous termination; Positions=4257;Note=Translated as Gln; Sequence=BAB15330.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=CAH10615.1; Type=Frameshift; Positions=211, 213, 221, 266; Sequence=CAH56189.1; Type=Erroneous initiation;Note=Translation N-terminally extended;
Secondary accessions: C9JCP4 D6RI12 F8WKS1 Q658P6 Q69YK7 Q6MZR1 Q8IWF4 Q8IZX1 Q8IZX2 Q8N406 Q8TEU0Q9H6C9 Q9H6H9 Q9H6P3 Q9H8A9 Q9HCF4 Q9HCL8Alternative splicing: 4 isoforms: Q63HN8-3 Q63HN8-4 Q63HN8-5 Q63HN8-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RNF213: NX_Q63HN8
Post-translational modifications:
Autoubiquitinates1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q63HN8
RNF213 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001243000.1 NP_066005.2
ENSEMBL proteins: ENSP00000425956 ENSP00000464087 ENSP00000324392 ENSP00000460462 ENSP00000392123 ENSP00000338218
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IDA | -- |
RNF213 for ontologies About GeneDecksing
RNF213 Antibody Products:
Assay Products for RNF213: |
Protein
Domains /
Families
for RNF213 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RNF213 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q63HN8ProtoNet protein and cluster: Q63HN8 1 Blocks protein family: IPB001841 Zn-finger
UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8Domain: The RING-type zinc finger domain is required for the ubiquitin-protein ligase activitySimilarity: Contains 1 RING-type zinc finger |
Function
for RNF213 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8Function: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activityEnzyme Number (IUBMB): EC 6.3.2.-1
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RNF213
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF213 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
RNF213 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for RNF213:
|
Pathways & Interactions
for RNF213 gene
(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
|
UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8Pathway: Protein modification; protein ubiquitinationInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNF213
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
2 Interacting proteins for RNF213 (Q63HN83 ENSP000003382184) via UniProtKB, MINT, STRING, and/or I2D About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006200 | ATP catabolic process |
IDA | -- | | GO:0016567 | protein ubiquitination |
IDA | -- | | GO:0051865 | protein autoubiquitination |
IDA | -- |
RNF213 for ontologies About GeneDecksing
|
Drugs & Compounds
for RNF213 gene(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
|
 Browse Tocris compounds for RNF213
Search CenterWatch for drugs/clinical trials and news about RNF213 / RN213
|
Transcripts
for RNF213 gene(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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RNF213 gene (3 alternative transcripts): NM_001256071.1 NM_020954.3 NM_020914.4 Unigene Clusters for RNF213: Ring finger protein 213 Hs.195642 [show with all ESTs], Hs.743310 [show with all ESTs]Unigene Representative Sequences: BX647946, NM_00125607118/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22): ENST00000508628 ENST00000582970(uc002jyh.2 uc021uen.1) ENST00000319921(uc002jyf.3)
ENST00000559070(uc002jyg.1) ENST00000573548 ENST00000574060 ENST00000571908
ENST00000558116 ENST00000560694 ENST00000558488 ENST00000559603 ENST00000411702
ENST00000573038 ENST00000559864 ENST00000574909 ENST00000572622 ENST00000427003
ENST00000570776
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RNF213
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): RNF213 (NM_020954) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AB046838.1 AB537889.1 AF397204.1 AF397205.1 AK023113.1 AL832920.1 BC035987.1 BC036891.1 BC040341.1 24/43 DOTS entries (see all 43): DT.447919 DT.91848111 DT.406466 DT.95295507 DT.97796434 DT.97826493 DT.75162914 DT.120997484 DT.95295580 DT.100010838 DT.91701159 DT.106896 DT.95221882 DT.100745287 DT.40189773 DT.91819678 DT.92454782 DT.95124682 DT.95295572 DT.95365281 DT.120948996 DT.120997554 DT.91751777 DT.92454778 2 AceView cDNA sequences: BI019105 BI049835
GeneLoc Exon Structure
|
Expression
for RNF213 gene
(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
| RNF213 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCCACCAG
About this image
See RNF213 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RNF213
SOURCE GeneReport for Unigene clusters: Hs.195642 Hs.743310
UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8Tissue specificity: Widely expressed (at protein level)
SABiosciences Custom PCR Arrays for RNF213
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RNF213
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF213 |
Orthologs
for RNF213 gene
(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 chordates.
Orthologs for RNF213 gene from 3/5 species (see all 5) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
RNF2136 |
-- |
20(a) |
1 ↔ 1 |
2(100440501-100496256) |
African clawed frog
(Xenopus laevis) |
Amphibia |
480423552 |
-- |
77.88(n) |
|
48042355 |
zebrafish
(Danio rerio) |
Actinopterygii |
AL953879.16 |
-- |
17(a) |
1 ↔ 1 |
3(57266294-57284534) |
Species with no ortholog for RNF213
ENSEMBL Gene Tree for RNF213 (if available)
TreeFam Gene Tree for RNF213 (if available) |
Paralogs
for RNF213 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for RNF213 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RNF213 (78234665 - 78372586 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for RNF213
4 CNVs: 73054 2235 102554 73055
2 Indels: 102553 45607
1 Inversion: 59742
Human Gene Mutation Database (HGMD): RNF213
| SABiosciences Cancer Mutation PCR Assays |
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|
Disorders
/ Diseases
for RNF213 gene
(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
|
RNF213 for disorders About GeneDecksing
OMIM gene information: 613768
OMIM disorders: --
UniProtKB/Swiss-Prot: RN213_HUMAN, Q63HN8
Defects in RNF213 are the cause of susceptibility to Moyamoya disease type 2 (MYMY2) [MIM:607151]. Aprogressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectaticvessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebralangiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of thecollateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute theprevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults Note=A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL).Translocation t(2;17)(p23;q25) with ALK
5  diseases for RNF213: About MalaCardsmoyamoya disease anaplastic large cell lymphoma inflammatory myofibroblastic tumor autism spectrum disorder
hemiplegia
1 disease from the University of Copenhagen DISEASES database for RNF213:Moyamoya disease Human Genome Epidemiology (HuGE) Navigator: RNF213 (1 document)
Export disorders for RNF213 gene to outside databases
|
Publications
for RNF213 gene (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 RNF213 gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with RNF213) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development. (PubMed id 21799892)1, 2, 3 Liu W....Koizumi A. (2011)
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. (PubMed id 21048783)1, 2, 3 Kamada F....Kure S. (2010)
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (2000)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)1, 2 Dephoure N.... Gygi S.P. (2008)
- Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)1, 2 Han G.... Gu J. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)1, 2 Bechtel S.... Schupp I. (2007)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. (PubMed id 12112524)1, 2 Cools J.... Marynen P. (2002)
|
External Searches for RNF213 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RNF213 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RNF213 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing RNF213 gene(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
|
|
About This Section
| Patent Information for RNF213 gene:
Search GeneIP for patents involving RNF213
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RNF213 gene(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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
 | |
 | |
 |
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