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DENND6B Gene

protein-coding   GIFtS: 33
GCID: GC22M050751

DENN/MADD Domain Containing 6B

(Previous names: family with sequence similarity 116, member B)
(Previous symbol: FAM116B)
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(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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Aliases
DENN/MADD Domain Containing 6B1 2     AFI1B2
FAM116B1 2 3     Protein DENND6B2
Family With Sequence Similarity 116, Member B1 2     Protein FAM116B2
DENN Domain-Containing Protein 6B2 3     

External Ids:    HGNC: 326901   Entrez Gene: 4149182   Ensembl: ENSG000002055937   UniProtKB: Q8NEG73   

Export aliases for DENND6B gene to outside databases


(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 DENND6B Gene:
DENND6B (DENN/MADD domain containing 6B) is a protein-coding gene. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND6A.

UniProtKB/Swiss-Prot: DEN6B_HUMAN, Q8NEG7
Function: Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35




(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_000022.10  NT_011526.8  NC_018933.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DENND6B
         Other transcription factors

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   Search Chromatin IP Primers for DENND6B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DENND6B


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

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

DENND6B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DENND6B gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050751:  view genomic region     (about GC identifiers)

Start:
50,747,459 bp from pter      End:
50,765,489 bp from pter
Size:
18,031 bases      Orientation:
minus strand

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DEN6B_HUMAN, Q8NEG7 (See protein sequence)
Recommended Name: Protein DENND6B  
Size: 585 amino acids; 66464 Da
Caution: Identified as having similarity to the core DENN family and referred to as DENN6B (PubMed:21330364).
Prediction methods do not indicate a DENN domain for this sequence and, the exact role of the DENN or this
DENN-like domain in GEF activity needs to be clarified
Secondary accessions: A6X8I5

Explore the universe of human proteins at neXtProt for DENND6B: NX_Q8NEG7

Explore proteomics data for DENND6B at MOPED


See DENND6B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001001794.3  
ENSEMBL proteins: 
 ENSP00000391524   ENSP00000414072  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
DENND: DENN/MADD domain containing

2 InterPro protein domains:
 IPR018307 ABL9/DENND6_dom
 IPR024224 DENND6

Graphical View of Domain Structure for InterPro Entry Q8NEG7

ProtoNet protein and cluster: Q8NEG7

1 Blocks protein domain: IPB012860 Protein of unknown function DUF1630

UniProtKB/Swiss-Prot: DEN6B_HUMAN, Q8NEG7
Similarity: Belongs to the DENND6 family


Find genes that share domains with DENND6B           About GenesLikeMe


(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,
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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DEN6B_HUMAN, Q8NEG7
Function: Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--
     
Find genes that share ontologies with DENND6B           About GenesLikeMe


Animal Models:
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(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 UniProtKB/Swiss-Prot
DEN6B_HUMAN, Q8NEG7: Recycling endosome (Potential). Cytoplasm (Potential)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0055037recycling endosome IEA--

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(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 DENND6B
Interactions:

    Search GeneGlobe Interaction Network for DENND6B

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

4 Interacting proteins for DENND6B (Q8NEG73 ENSP000003915244) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
INPP5EQ9NRR63I2D: score=5 
SLC9B2Q86UD53I2D: score=5 
PRODHO432723I2D: score=4 
About this table

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0032313regulation of Rab GTPase activity IDA--

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(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 DENND6B (DEN6B)



(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 DENND6B gene: 
NM_001001794.3  

Unigene Cluster for DENND6B:

DENN/MADD domain containing 6B
Hs.530380  [show with all ESTs]
Unigene Representative Sequence: AK054743
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000413817(uc011arv.1) ENST00000495607 ENST00000471942 ENST00000433760
ENST00000460087
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  QuantiFast Probe-based Assays in human, mouse, rat DENND6B

Additional mRNA sequence: 

AK022407.1 AK054743.1 BC031069.1 

11 DOTS entries:

DT.412706  DT.100779457  DT.100774934  DT.412707  DT.100779458  DT.100779461  DT.100008328  DT.100686782 
DT.91748880  DT.40276902  DT.91931534 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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DENND6B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DENND6B Expression
About this image


DENND6B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 11 entries
         Epithalamus
         brain/midbrain/lateral wall   
 
 Neural Tube (Nervous System)    fully expand to see all 8 entries
         Metencephalon
         brain/midbrain/lateral wall   
 
 Eye (Sensory Organs)
         Retina
 
 Spinal Cord (Nervous System)
DENND6B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DENND6B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.530380
    Custom PCR Arrays for DENND6B
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for DENND6B gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Dennd6b1 , 5 family with sequence similarity 116, member B5
DENN/MADD domain containing 6B1
86.15(n)1
91.28(a)1
  15 (44.70 cM)5
694401  NM_027081.31  NP_081357.21 
 891822175 
chicken
(Gallus gallus)
Aves FAM116B1 family with sequence similarity 116, member B 76.3(n)
81.12(a)
  426252  XM_004937391.1  XP_004937448.1 
lizard
(Anolis carolinensis)
Reptilia DENND6B6
DENN/MADD domain containing 6B
52(a)
1 ↔ 1
GL344065.1(8629-19124)
tropical clawed frog
(Xenopus tropicalis)
Amphibia dennd6b1 DENN/MADD domain containing 6B 65.38(n)
64.61(a)
  100494510  XM_002939373.2  XP_002939419.2 
zebrafish
(Danio rerio)
Actinopterygii dennd6b1 DENN/MADD domain containing 6B 69.28(n)
72.01(a)
  337436  NM_200065.1  NP_956359.1 
fruit fly
(Drosophila melanogaster)
Insecta CG33096
--
41(a)
1 → many
X(5220708-5223383)
worm
(Caenorhabditis elegans)
Secernentea CELE_F53H1.31 CELE_F53H1.3 51.62(n)
48.38(a)
  176945  NM_067664.7  NP_500065.2 


ENSEMBL Gene Tree for DENND6B (if available)
TreeFam Gene Tree for DENND6B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DENND6B gene
DENND6A2  
2 SIMAP similar genes for DENND6B using alignment to 2 protein entries:     DEN6B_HUMAN (see all proteins):
FAM116B    DENND6A

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(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 DENND6B (see all 456)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1465561461,2
--50749972(+) GCACAA/CAGCCC 1 -- int10--------
rs1411915611,2
C--50750045(+) CCAGGG/TGTGGT 1 -- int10--------
rs1450638331,2
--50750073(+) CTGCAA/CAGTGG 1 -- int10--------
rs1159198811,2
F--50750080(+) GTGGTC/TTCTCC 1 -- int11Minor allele frequency- T:0.04WA 118
rs1892412261,2
--50750140(+) AGACGA/GGGGCT 1 -- int10--------
rs1161824261,2
F--50750153(+) GTCAGG/AAGAGG 1 -- int11Minor allele frequency- A:0.03WA 118
rs342447881,2
C--50750218(+) AGGGGG/CGTCGG 1 -- int14Minor allele frequency- C:0.13WA NA EA 360
rs1812771201,2
--50750242(+) GGCACC/TGGGAG 1 -- int10--------
rs1866963781,2
--50750243(+) GCACCA/GGGAGG 1 -- int10--------
rs743280981,2
C,F--50750363(+) TGCCTG/CCGAGG 1 -- int11Minor allele frequency- C:0.14WA 118

HapMap Linkage Disequilibrium report for DENND6B (50747459 - 50765489 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for DENND6B: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing DENND6B
DNA2.0 Custom Variant and Variant Library Synthesis for DENND6B

(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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  --

(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 DENND6B gene integrated from 10 sources:
(articles sorted by number of sources associating them with DENND6B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. DENN domain proteins: regulators of Rab GTPases. (PubMed id 21330364)1, 2, 3 Marat A.L.... McPherson P.S. (J. Biol. Chem. 2011)
  2. 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)
  3. Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. (PubMed id 22595670)2 Linford A.... Barr F.A. (Dev. Cell 2012)
  4. 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)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)
  8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

(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)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 414918 HGNC: 32690 Ensembl:ENSG00000205593 euGenes: HUgn414918 ECgene: DENND6B
H-InvDB: DENND6B

(According to HUGE)
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  --

(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 DENND6B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DENND6B gene:
Search GeneIP for patents involving DENND6B

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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 QuantiFast Probe-based Assays in human, mouse, rat DENND6B QuantiTect SYBR Green Assays in human, mouse, rat DENND6B
 Custom PCR Arrays for DENND6B Search Chromatin IP Primers for DENND6B
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 GenScript Custom Purified and Recombinant Proteins Services for DENND6B GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for DENND6B
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 Search Tocris compounds for DENND6B (DEN6B)
 Browse Sino Biological Proteins
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Search for Antibodies for DENND6B at Abcam
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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
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 Browse ESI BIO Cell Lines and PureStem Progenitors for DENND6B
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for DENND6B
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 Search ThermoFisher Antibodies for DENND6B
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DENND6B
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DENND6B
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 Search Addgene for plasmids for DENND6B
  Search eBioscience for proteins for DENND6B
  Search eBioscience for elisas for DENND6B
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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