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

DENND2C Gene

protein-coding   GIFtS: 40
GCID: GC01M115125

DENN/MADD domain containing 2C
  Search for DENND2C
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DENND2C    

Aliases
for DENND2C 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 2C1 2     FLJ370991
DJ1156J9.11     RP5-1156J9.11
DKFZp686G03511     DENN Domain-Containing Protein 2C2
DKFZp779P11491     

External Ids:    HGNC: 247481   Entrez Gene: 1632592   Ensembl: ENSG000001759847   UniProtKB: Q68D513   

Export aliases for DENND2C gene to outside databases

Previous GC identifers: GC01M114838 GC01M112985


Summaries
for DENND2C 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: DEN2C_HUMAN, Q68D51
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




Genomic Views
for DENND2C 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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DENND2C gene promoter:
         HFH-3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   E4BP4   POU3F2   GATA-2   Evi-1   FOXI1   FAC1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DENND2C promoter sequence
   Search SABiosciences Chromatin IP Primers for DENND2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DENND2C


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

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.2-p13.1

DENND2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DENND2C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M115125:  view genomic region     (about GC identifiers)

Start:
 115,125,469 bp from pter      End:
 115,213,043 bp from pter
Size:
 87,575 bases      Orientation:
 minus strand

Proteins
for DENND2C 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: DEN2C_HUMAN, Q68D51 (See protein sequence)
Recommended Name: DENN domain-containing protein 2C  
Size: 928 amino acids; 106865 Da
Secondary accessions: B1AL26 Q5TCX6 Q6P3R3
Alternative splicing: 3 isoforms:  Q68D51-1   Q68D51-2   Q68D51-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DENND2C: NX_Q68D51

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q68D51

    • DENND2C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243333.1  NP_940861.3  

    ENSEMBL proteins: 
     ENSP00000376957   ENSP00000376955   ENSP00000376958  

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    Protein Domains /
    Families
    for DENND2C gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DENND2C 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 Q68D51

    ProtoNet protein and cluster: Q68D51

    UniProtKB/Swiss-Prot: DEN2C_HUMAN, Q68D51
    Similarity: Contains 1 dDENN domain
    Similarity: Contains 1 DENN domain
    Similarity: Contains 1 uDENN domain


    Function
    for DENND2C 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: DEN2C_HUMAN, Q68D51
    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

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate DENND2C (see all 17):
    hsa-miR-15a hsa-miR-938 hsa-miR-765 hsa-miR-1271 hsa-miR-488 hsa-miR-424 hsa-miR-3674 hsa-miR-580
    SwitchGear 3'UTR luciferase reporter plasmid: DENND2C 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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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--


    DENND2C for ontologies           About GeneDecksing



    Pathways & Interactions
    for DENND2C 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 DENND2C

    Drugs & Compounds
    for DENND2C 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 DENND2C
    Search CenterWatch for drugs/clinical trials and news about DENND2C / DEN2C 

    Transcripts
    for DENND2C 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,
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    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 DENND2C gene (2 alternative transcripts): 
    NM_001256404.1  NM_198459.3  

    Unigene Cluster for DENND2C:

    DENN/MADD domain containing 2C
    Hs.654928  [show with all ESTs]
    Unigene Representative Sequence: CR749576
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393276(uc001efc.1) ENST00000393274(uc001efd.1 uc001eez.3)
    ENST00000495031 ENST00000481894 ENST00000495896 ENST00000493549 ENST00000393277


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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate DENND2C (see all 17):
    hsa-miR-15a hsa-miR-938 hsa-miR-765 hsa-miR-1271 hsa-miR-488 hsa-miR-424 hsa-miR-3674 hsa-miR-580
    SwitchGear 3'UTR luciferase reporter plasmid: DENND2C 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DENND2C (see all 4)
    OriGene shRNA RFP: DENND2C
    OriGene siRNA: DENND2C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DENND2C
    Clone
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    Additional cDNA sequence: 

    AK124287.1 AK308302.1 BX647950.1 BX649075.1 CR749576.1 

    8 DOTS entries:

    DT.92022915  DT.99930268  DT.100668325  DT.209625  DT.95196374  DT.121388834  DT.40126901  DT.86846717 

    24/358 AceView cDNA sequences (see all 358):

    BM760989 AW138855 AK124287 W32722 BM768440 AA808494 BC056678 AI357317 
    BG030450 BE671544 AA086476 BM696482 BU735103 AI015700 AF081788 BM805502 
    BQ938544 AW849664 AI051051 AA658192 BU678635 BM794628 AA351970 F32963 

    GeneLoc Exon Structure


    Expression
    for DENND2C 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

    DENND2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTGTGGTA

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

    DENND2C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DENND2C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DENND2C

    SOURCE GeneReport for Unigene cluster: Hs.654928
        SABiosciences Custom PCR Arrays for DENND2C
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DENND2C

    Orthologs
    for DENND2C 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 DENND2C 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 DENND2C1 DENN/MADD domain containing 2C 67.41(n)
    68.49(a)    		   100858235  XM_003642727.1  XP_003642775.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DENND2C6
    		 --
    		 67(a)
    		 1 ↔ 1
    		 4(130279678-130312380)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:dkeyp-31a2.11 si:dkeyp-31a2.1 58.95(n)
    57.66(a)    		   570947  XM_001919051.3  XP_001919086.3 


    ENSEMBL Gene Tree for DENND2C (if available)
    TreeFam Gene Tree for DENND2C (if available) 

    Paralogs
    for DENND2C gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DENND2C gene
    ST52  DENND5A2  DENND2D2  DENND2A2  DENND32  DENND4A2  DENND1C2  DENND4B2  
    DENND1B2  DENND1A2  DENND5B2  DENND4C2  
    4 SIMAP similar genes for DENND2C using alignment to 2 protein entries:     DEN2C_HUMAN (see all proteins):
    DKFZp667I053    ST5    DENND2D    DENND2A

    DENND2C for paralogs           About GeneDecksing



    Genomic Variants
    for DENND2C 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

    10/1349 NCBI SNPs in DENND2C are shown (see all 1349)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1381807191,2
    		--115126711(+) TGGTAC/TACTTA 2 -- ds50010--------
    rs1495637331,2
    		--115126825(+) GCTTCA/TGTTCT 2 -- ds50010--------
    rs1824571081,2
    		--115126852(+) GGCAAC/TGTATT 2 -- ds50010--------
    rs1432172531,2
    		--115126882(+) TTTTTC/GTTTTT 2 -- ds50010--------
    rs1483356291,2
    		--115126954(+) GTGGCA/GCGATC 2 -- ds50010--------
    rs1850683741,2
    		--115126995(+) TCAAGC/TGATTC 2 -- ds50010--------
    rs2224941,2
    		--115127059(-) aaaaaT/Ctagct 2 -- ds50011Minor allele frequency- C:0.00NA 2
    rs1816985631,2
    		--115127080(+) TTTAGA/TAGAGA 2 -- ds50010--------
    rs1414670471,2
    		--115127251(+) TTTAAA/GGATTG 2 -- ut310--------
    rs1463729521,2
    		--115127272(+) TATGCA/GTACAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for DENND2C (115125469 - 115213043 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for DENND2C
         3 CNVs: 2322 3306 64651

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for DENND2C 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
    		   --

    Publications
    for DENND2C 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 DENND2C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DENND2C)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    3. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PubMed id 20937701)2 Yoshimura S.... Barr F.A. (2010)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. 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 DENND2C 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 DENND2C gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 163259 HGNC: 24748 AceView: AMPD1andBCAS2andFLJ37099 Ensembl:ENSG00000175984 euGenes: HUgn163259
    ECgene: DENND2C H-InvDB: DENND2C

    Other Databases showing DENND2C gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DENND2C 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 DENND2C Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DENND2C gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DENND2C gene:
    Search GeneIP for patents involving DENND2C

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



    Products
    for DENND2C 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),
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    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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