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OCEL1 Gene

protein-coding   GIFtS: 43
GCID: GC19P017337

Occludin/ELL Domain Containing 1

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Aliases
for OCEL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Occludin/ELL Domain Containing 11 2
FWP0092
S863-92
Occludin/ELL Domain-Containing Protein 12

External Ids:    HGNC: 262211   Entrez Gene: 796292   Ensembl: ENSG000000993307   UniProtKB: Q9H6073   
ORGUL members:         

Export aliases for OCEL1 gene to outside databases

Previous GC identifers: GC19P017201 GC19P016904


Summaries
for OCEL1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for OCEL1 Gene:
OCEL1 (occludin/ELL domain containing 1) is a protein-coding gene. An important paralog of this gene is MARVELD2.


Genomic Views
for OCEL1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OCEL1 gene promoter:
         AhR   USF1   NRSF form 1   MyoD   USF2   USF-1:USF-2   Nkx2-5   NRSF form 2   Arnt   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: OCEL1 promoter sequence
   Search Chromatin IP Primers for OCEL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OCEL1


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

OCEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OCEL1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P017337:  view genomic region     (about GC identifiers)

Start:
 17,337,013 bp from pter      End:
 17,340,028 bp from pter
Size:
 3,016 bases      Orientation:
 plus strand

Proteins
for OCEL1 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607 (See protein sequence)
Recommended Name: Occludin/ELL domain-containing protein 1  
Size: 264 amino acids; 29404 Da

Explore the universe of human proteins at neXtProt for OCEL1: NX_Q9H607

Explore proteomics data for OCEL1 at MOPED


See OCEL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_078854.1  
ENSEMBL proteins: 
 ENSP00000215061   ENSP00000471201   ENSP00000469261   ENSP00000470270   ENSP00000471311  
 ENSP00000470258   ENSP00000471742   ENSP00000470883   ENSP00000469624  

OCEL1 Human Recombinant Protein Products:

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 		antibodies-online proteins for OCEL1 (3 products) 

 		antibodies-online peptides for OCEL1

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antibodies-online antibodies for OCEL1 (16 products) 

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antibodies-online kits for OCEL1 (4 products) 

Domains /
Families
for OCEL1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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TryGeneCards Plus		 1 InterPro protein domain:
 IPR010844 Occludin_RNApol2_elong_fac_ELL

Graphical View of Domain Structure for InterPro Entry Q9H607

ProtoNet protein and cluster: Q9H607

1 Blocks protein domain: IPB010844 Occludin and RNA polymerase II elongation factor ELL

UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607
Similarity: Belongs to the ELL/occludin family


Find genes that share domains with OCEL1           About GenesLikeMe


Function
for OCEL1 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     3 GenomeRNAi human phenotypes for OCEL1:
 Decreased TP53 protein express  Increased G1 DNA content  Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for OCEL1

miRNA
Products:    		Block miRNA regulation of human, mouse, rat OCEL1 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate OCEL1:
hsa-miR-4254
SwitchGear 3'UTR luciferase reporter plasmid: OCEL1 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat OCEL1

Gene Editing
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OriGene ORF clones in mouse, rat for OCEL1
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for OCEL1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCEL1

Cell Line
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In Situ Assay
Products:   
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Localization
for OCEL1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2
golgi apparatus2

Pathways & Interactions
for OCEL1 gene

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OCEL1
Interactions:

    Search GeneGlobe Interaction Network for OCEL1

Drugs & Compounds
for OCEL1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for OCEL1



Transcripts
for OCEL1 gene

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for OCEL1 gene: 
NM_024578.1  

Unigene Cluster for OCEL1:

Occludin/ELL domain containing 1
Hs.422676  [show with all ESTs]
Unigene Representative Sequence: BC038945
15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000215061(uc002nfp.3) ENST00000602236 ENST00000601576 ENST00000601529
ENST00000599588 ENST00000594283 ENST00000600232 ENST00000597836 ENST00000598068
ENST00000596279 ENST00000598172 ENST00000599286 ENST00000595769 ENST00000595573
ENST00000600826
miRNA
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1 qRT-PCR Assays for microRNA that regulate OCEL1:
hsa-miR-4254
SwitchGear 3'UTR luciferase reporter plasmid: OCEL1 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat OCEL1
Clone
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OriGene ORF clones in mouse, rat for OCEL1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCEL1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OCEL1
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Additional mRNA sequence: 

AF109191.1 AK026362.1 BC004121.2 BC029361.1 BC038945.1 

8 DOTS entries:

DT.95272108  DT.40251005  DT.314495  DT.91805948  DT.95332178  DT.100781656  DT.121450966  DT.91764258 

Selected AceView cDNA sequences (see all 116):

NM_024578 AI290528 AU185792 BM976080 AI718116 BM975221 BC029361 CR598715 
CR602515 CK300293 BC038945 BM701945 BG182568 BM979959 BU753491 BC004121 
BV179772 AK026362 CK300801 AL523736 BQ445920 BI488922 BQ014997 BG214341 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for OCEL1 (see all 10)    About this scheme

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


ECgene alternative splicing isoforms for OCEL1

Expression
for OCEL1 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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OCEL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTAGACAC
OCEL1 Expression
About this image

OCEL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

OCEL1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.422676
    Custom PCR Arrays for OCEL1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OCEL1
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In Situ
Assay Products: 
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCEL1

Orthologs
for OCEL1 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)
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This gene was present in the common ancestor of animals.

Orthologs for OCEL1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
mouse
(Mus musculus)		 Mammalia Ocel11 , 5 occludin/ELL domain containing 11, 5 76.42(n)1
70.12(a)1		   8 (34.43 cM)5
770901  NM_029865.21  NP_084141.21 
 713712985 
chicken
(Gallus gallus)		 Aves --
 Uncharacterized protein
 8(a)
 many ↔ many
 Z(57090196-57146755)
zebrafish
(Danio rerio)		 Actinopterygii si:dkey-208k22.66
 si:dkey-208k22.6
 12(a)
 many ↔ many
 2(23456213-23461443) ENSDARG00000061800
fruit fly
(Drosophila melanogaster)		 Insecta Su(Tpl)6
 Su(Tpl)
 5(a)
 1 → many
 3L(19882220-19902510)


ENSEMBL Gene Tree for OCEL1 (if available)
TreeFam Gene Tree for OCEL1 (if available)

Paralogs
for OCEL1 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for OCEL1 gene
MARVELD22  ELL32  ELL22  ELL2  
Selected SIMAP similar genes for OCEL1 using alignment to 10 protein entries:     OCEL1_HUMAN (see all proteins) (see all similar genes):
C17orf86    FKBP3    FP1523    FAM175A    HMGA2    PTPLA
HKR1    LYRM4    AURA2    LINC00596    ZNF564    DNAPTP3
NF2    UTY    SPATS2L    SEPT2    MARVELD2    TSEN2

Find genes that share paralogs with OCEL1           About GenesLikeMe



Genomic Variants
for OCEL1 gene

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for OCEL1 (see all 218)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 19 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1461913591,2
--16902423(+) TGCCCG/TGCTGA 1 -- us2k10--------
rs621261791,2
C,F--17267340(+) AATAGA/CGAAAT 1 -- us2k16Minor allele frequency- C:0.22WA CSA NA EA 364
rs1505688151,2
C--17335100(+) TTTCC-/TTTTTTTTTT/TTTTTT
TTTTTT/TTTTTTTTTTTTTTTTTT 		2 -- us2k1 cds10--------
rs2004210831,2
C--17335109(+) TTTTTG/TAGACA 1 -- us2k10--------
rs2013504541,2
C--17335110(+) TTTTGA/TGACAG 1 -- us2k10--------
rs1876875971,2
--17335189(+) GGTTCA/CAGCGA 1 -- us2k10--------
rs1922456211,2
--17335235(+) CAGGCA/GCCCGC 1 -- us2k10--------
rs768691651,2
C--17335237(+) GGCGCC/TCGCCG 1 -- us2k12Minor allele frequency- T:0.04WA NA 122
rs583330771,2
C--17335324(+) GACCTC/TGTGAT 1 -- us2k12Minor allele frequency- T:0.25NA 4
rs621261811,2
C,F--17335465(+) AGCACT/GCTGGG 1 -- us2k13Minor allele frequency- G:0.33NA WA CSA 6

HapMap Linkage Disequilibrium report for OCEL1 (17337013 - 17340028 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for OCEL1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv911182CNV Loss21882294
dgv3756n71CNV Loss21882294
dgv3757n71CNV Loss21882294
nsv458373CNV Loss19166990
nsv911188CNV Loss21882294
nsv911185CNV Loss21882294
nsv828469CNV Loss20364138
nsv470129CNV Loss18288195
dgv3758n71CNV Loss21882294
nsv911186CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing OCEL1
DNA2.0 Custom Variant and Variant Library Synthesis for OCEL1

Disorders / Diseases
for OCEL1 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.)
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Publications
for OCEL1 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)
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PubMed articles for OCEL1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with OCEL1)		    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (Genome Res. 2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
  5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  6. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

External Searches for OCEL1 gene

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

Genome Databases showing OCEL1 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 79629 HGNC: 26221 AceView: FLJ22709 Ensembl:ENSG00000099330 euGenes: HUgn79629
ECgene: OCEL1 H-InvDB: OCEL1

Other Databases showing OCEL1 gene

(According to HUGE)
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Specialized Databases showing OCEL1 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for OCEL1 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for OCEL1 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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TryGeneCards Plus		Patent Information for OCEL1 gene:
Search GeneIP for patents involving OCEL1

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



Products
for OCEL1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 EMD Millipore genomic analysis products

  
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