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

DENND2A Gene

protein-coding   GIFtS: 45
GCID: GC07M140218

DENN/MADD domain containing 2A

(Previous name: KIAA1277 )
(Previous symbol: KIAA1277)
  Search for DENND2A
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DENND2A    

Aliases
for DENND2A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
DENN/MADD Domain Containing 2A1 2
KIAA12771 2 3
FAM31D1 2
DENN Domain-Containing Protein 2A2

External Ids:    HGNC: 222121   Entrez Gene: 271472   Ensembl: ENSG000001469667   UniProtKB: Q9ULE33   

Export aliases for DENND2A gene to outside databases

Previous GC identifers: GC07M139670 GC07M139864 GC07M134513


Summaries
for DENND2A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: DEN2A_HUMAN, Q9ULE3
Function: Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to
GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes
back to trans-Golgi network/TGN transport




Genomic Views
for DENND2A 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_000007.13  NC_018918.1  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DENND2A gene promoter:
         GR   SRY   AML1a   GCNF-1   GCNF   GR-alpha   POU6F1 (c2)   GCNF-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DENND2A promoter sequence
   Search SABiosciences Chromatin IP Primers for DENND2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DENND2A


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

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

DENND2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DENND2A gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M140218:  view genomic region     (about GC identifiers)

Start:
 140,218,220 bp from pter      End:
 140,373,793 bp from pter
Size:
 155,574 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 139,556,410-139,640,521     

Proteins
for DENND2A 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: DEN2A_HUMAN, Q9ULE3 (See protein sequence)
Recommended Name: DENN domain-containing protein 2A  
Size: 1009 amino acids; 113853 Da
Subcellular location: Cytoplasm, cytoskeleton. Note=Associated with actin filaments
Sequence caution: Sequence=BAA86591.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: C9JUI3 Q1RMD5 Q86XY0
Alternative splicing: 2 isoforms:  Q9ULE3-1   Q9ULE3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DENND2A: NX_Q9ULE3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULE3

    • DENND2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056504.3  
    ENSEMBL proteins: 
     ENSP00000275884   ENSP00000417673   ENSP00000419654   ENSP00000420145   ENSP00000419464  
     ENSP00000420605   ENSP00000418844   ENSP00000418088   ENSP00000418760   ENSP00000442245  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DENND2A

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015629actin cytoskeleton IDA--
    GO:0030479actin cortical patch IEA--


    DENND2A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DENND2A

    Protein Domains /
    Families
    for DENND2A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DENND2A for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005113 uDENN_dom
     IPR005112 dDENN_dom
     IPR001194 DENN_dom

    Graphical View of Domain Structure for InterPro Entry Q9ULE3

    ProtoNet protein and cluster: Q9ULE3

    UniProtKB/Swiss-Prot: DEN2A_HUMAN, Q9ULE3
    Similarity: Contains 1 dDENN domain
    Similarity: Contains 1 DENN domain
    Similarity: Contains 1 uDENN domain


    Function
    for DENND2A 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: DEN2A_HUMAN, Q9ULE3
    Function: Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to
    GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes
    back to trans-Golgi network/TGN transport

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DENND2A
    1 QIAGEN miScript miRNA Assays for microRNA that regulate DENND2A:
    hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmid: DENND2A 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for DENND2A

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--


    DENND2A for ontologies           About GeneDecksing



    Pathways & Interactions
    for DENND2A 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DENND2A

    1 Interacting protein for DENND2A (Q9ULE32) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --P310162MINT-8107631 MINT-8106357
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0042147retrograde transport, endosome to Golgi IMP--


    DENND2A for ontologies           About GeneDecksing



    Drugs & Compounds
    for DENND2A 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DENND2A
    Search CenterWatch for drugs/clinical trials and news about DENND2A / DEN2A 

    Transcripts
    for DENND2A 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 DENND2A gene: 
    NM_015689.3  

    Unigene Cluster for DENND2A:

    DENN/MADD domain containing 2A
    Hs.6385  [show with all ESTs]
    Unigene Representative Sequence: BC115004
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275884(uc010lnj.3 uc011kre.2 uc010lnk.3 uc003vvw.3)
    ENST00000461883 ENST00000496613 ENST00000469373 ENST00000492720(uc003vvx.3)
    ENST00000475837 ENST00000491728 ENST00000489552 ENST00000477488 ENST00000537639


    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate DENND2A:
    hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmid: DENND2A 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: DENND2A
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DENND2A
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    Additional cDNA sequence: 

    AB033103.2 AK290056.1 AK297959.1 BC049193.1 BC115004.1 BC132875.1 BC144190.1 

    4 DOTS entries:

    DT.113941  DT.40191857  DT.40215461  DT.100035420 

    24/87 AceView cDNA sequences (see all 87):

    AI223795 AI131051 AI298983 AA324098 BM468484 BC049193 BM698088 AA207027 
    AL710939 AA035723 BX091824 AA402260 BE781192 BE859017 BU507826 BE669799 
    BM702441 AB033103 AI057416 AI038256 AI424287 AI422088 BG121789 AI570546 

    GeneLoc Exon Structure


    Expression
    for DENND2A 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

    DENND2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAATGGGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DENND2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    See DENND2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DENND2A

    SOURCE GeneReport for Unigene cluster: Hs.6385
        SABiosciences Custom PCR Arrays for DENND2A
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DENND2A

    Orthologs
    for DENND2A 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 DENND2A gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DENND2A1 DENN/MADD domain containing 2A 73.9(n)
    75.1(a)    		   418115  XM_416349.3  XP_416349.3 
    lizard
    (Anolis carolinensis)    		 Reptilia DENND2A6
    		 --
    		 70(a)
    		 1 ↔ 1
    		 5(15485957-15521137)
    zebrafish
    (Danio rerio)    		 Actinopterygii wu:fc23b071 wu:fc23b07 70.28(n)
    75.04(a)    		   563917  XM_001920340.3  XP_001920375.3 


    ENSEMBL Gene Tree for DENND2A (if available)
    TreeFam Gene Tree for DENND2A (if available) 

    Paralogs
    for DENND2A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DENND2A gene
    ST52  DENND5A2  DENND2D2  DENND32  DENND4A2  DENND1C2  DENND4B2  DENND1B2  
    DENND1A2  DENND5B2  DENND4C2  DENND2C2  
    4 SIMAP similar genes for DENND2A using alignment to 8 protein entries:     DEN2A_HUMAN (see all proteins):
    DKFZp667I053    ST5    DENND2D    DENND2C

    DENND2A for paralogs           About GeneDecksing



    Genomic Variants
    for DENND2A 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

    10/1726 NCBI SNPs in DENND2A are shown (see all 1726)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1453437031,2
    		--140217760(+) CTTTT-/TGTGTGT 1 -- ds50010--------
    rs1424782701,2
    		--140217822(+) TCTTCC/TAAGAG 1 -- ds50010--------
    rs1475611421,2
    		--140217869(+) AGAGAC/GACGTC 1 -- ds50010--------
    rs1132064061,2
    		C,--140217872(+) GAGACG/ATCCAT 1 -- ds50012Minor allele frequency- A:0.04CSA WA 120
    rs1403241531,2
    		--140217944(+) CATCCA/GTCTAC 1 -- ds50010--------
    rs734923231,2
    		C,--140217960(+) CCGTTC/TCTCCC 1 -- ds50012Minor allele frequency- T:0.03WA 120
    rs743272541,2
    		C,F,--140218007(+) TAGGAG/AGCCTC 1 -- ds50011Minor allele frequency- A:0.05NA 120
    rs1908176441,2
    		--140218014(+) CCTCAA/CTCCCT 1 -- ds50010--------
    rs1145420451,2
    		--140218039(+) GGCTCC/TGCCTC 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1442876821,2
    		--140218054(+) CCTCAC/TAGTCC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DENND2A (140218220 - 140373793 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DENND2A
         1 Indel: 12971

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    Disorders / Diseases
    for DENND2A 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
    DENND2A for disorders           About MalaCards

    DENND2A for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: DENND2A (1 document)

    Export disorders for DENND2A gene to outside databases

    Publications
    for DENND2A 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 DENND2A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DENND2A)    		    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. (2004)
    2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    3. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PubMed id 20937701)2 Yoshimura S.... Barr F.A. (2010)
    4. Genome-wide association identifies ATOH7 as a major g ene determining human optic disc size. (PubMed id 20395239)1 Macgregor S....Mackey D.A. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    8. 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)

    External Searches for DENND2A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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 DENND2A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27147 HGNC: 22212 AceView: KIAA1277 Ensembl:ENSG00000146966 euGenes: HUgn27147
    ECgene: DENND2A H-InvDB: DENND2A

    Other Databases showing DENND2A gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1277

    Specialized Databases showing DENND2A 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
    NameDescription
    PharmGKB entry for DENND2A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DENND2A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DENND2A gene:
    Search GeneIP for patents involving DENND2A

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



    Products
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    In Situ Hybridization Assays from
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    About This Section

     
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     DENND2A Proteins, Antibodies, CLIAs, and ELISAs
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