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Aliases for DENND2C Gene

Aliases for DENND2C Gene

  • DENN Domain Containing 2C 2 3 5
  • DENN/MADD Domain Containing 2C 2 3
  • DENN Domain-Containing Protein 2C 3
  • RP5-1156J9.1 3
  • DJ1156J9.1 3

External Ids for DENND2C Gene

Previous GeneCards Identifiers for DENND2C Gene

  • GC01M114838
  • GC01M115125
  • GC01M112985

Summaries for DENND2C Gene

GeneCards Summary for DENND2C Gene

DENND2C (DENN Domain Containing 2C) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND2A.

UniProtKB/Swiss-Prot for DENND2C Gene

  • 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND2C Gene

Genomics for DENND2C Gene

Regulatory Elements for DENND2C Gene

Enhancers for DENND2C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G114466 1.5 Ensembl ENCODE dbSUPER 10.3 +202.4 202422 2.8 HNRNPUL1 FOXA2 ATF1 MLX ARID4B DMAP1 SLC30A9 SP5 MXD4 MIER2 TRIM33 DENND2C TSHB EIF2S2P5 GC01P114460
GH01G114715 1.1 ENCODE 10.8 -46.0 -46020 2.4 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A YBX1 SIKE1 TRIM33 DENND2C RSBN1 CSDE1 TSPAN2 NRAS RN7SL432P
GH01G114580 1.1 ENCODE 10.6 +88.9 88877 2.4 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 TRIM33 AMPD1 DENND2C RSBN1 BCAS2 LOC105378913
GH01G114353 1.1 Ensembl ENCODE dbSUPER 9.8 +316.9 316922 0.6 ZFHX2 NFIC MAZ PRDM10 FOXP2 EZH2 OLFML3 DENND2C LOC100421116 GC01P114316
GH01G114667 1.3 ENCODE dbSUPER 8.2 +0.6 599 3.7 PKNOX1 ATF1 FOXA2 ARID4B BRCA1 ZNF2 ZNF48 YY1 ZNF121 GLIS2 AMPD1 DENND2C TRIM33 TSPAN2 ENSG00000228035 LOC105378914
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DENND2C on UCSC Golden Path with GeneCards custom track

Promoters for DENND2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000011705 322 1801 PKNOX1 FOXA2 ARID4B BRCA1 ZNF2 ZNF48 YY1 GLIS2 KLF7 KDM4B

Genomic Location for DENND2C Gene

Chromosome:
1
Start:
114,582,848 bp from pter
End:
114,670,422 bp from pter
Size:
87,575 bases
Orientation:
Minus strand

Genomic View for DENND2C Gene

Genes around DENND2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND2C Gene

Proteins for DENND2C Gene

  • Protein details for DENND2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68D51-DEN2C_HUMAN
    Recommended name:
    DENN domain-containing protein 2C
    Protein Accession:
    Q68D51
    Secondary Accessions:
    • B1AL26
    • Q5TCX6
    • Q6P3R3

    Protein attributes for DENND2C Gene

    Size:
    928 amino acids
    Molecular mass:
    106865 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DENND2C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND2C Gene

Post-translational modifications for DENND2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DENND2C Gene

No data available for DME Specific Peptides for DENND2C Gene

Domains & Families for DENND2C Gene

Gene Families for DENND2C Gene

Protein Domains for DENND2C Gene

Suggested Antigen Peptide Sequences for DENND2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DENND2C: view

No data available for UniProtKB/Swiss-Prot for DENND2C Gene

Function for DENND2C Gene

Molecular function for DENND2C Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for DENND2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
genes like me logo Genes that share ontologies with DENND2C: view
genes like me logo Genes that share phenotypes with DENND2C: view

Animal Models for DENND2C Gene

MGI Knock Outs for DENND2C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DENND2C Gene

Localization for DENND2C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DENND2C gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DENND2C Gene

Pathways & Interactions for DENND2C Gene

genes like me logo Genes that share pathways with DENND2C: view

Pathways by source for DENND2C Gene

Interacting Proteins for DENND2C Gene

Gene Ontology (GO) - Biological Process for DENND2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DENND2C: view

No data available for SIGNOR curated interactions for DENND2C Gene

Drugs & Compounds for DENND2C Gene

No Compound Related Data Available

Transcripts for DENND2C Gene

Unigene Clusters for DENND2C Gene

DENN/MADD domain containing 2C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND2C Gene

No ASD Table

Relevant External Links for DENND2C Gene

GeneLoc Exon Structure for
DENND2C
ECgene alternative splicing isoforms for
DENND2C

Expression for DENND2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DENND2C Gene

This gene is overexpressed in Muscle - Skeletal (x8.2), Esophagus - Mucosa (x7.9), Skin - Sun Exposed (Lower leg) (x5.7), and Skin - Not Sun Exposed (Suprapubic) (x5.0).

Protein differential expression in normal tissues from HIPED for DENND2C Gene

This gene is overexpressed in Serum (41.8) and Plasma (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DENND2C Gene



Protein tissue co-expression partners for DENND2C Gene

NURSA nuclear receptor signaling pathways regulating expression of DENND2C Gene:

DENND2C

SOURCE GeneReport for Unigene cluster for DENND2C Gene:

Hs.654928

Evidence on tissue expression from TISSUES for DENND2C Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with DENND2C: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND2C Gene

Orthologs for DENND2C Gene

This gene was present in the common ancestor of chordates.

Orthologs for DENND2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND2C 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia DENND2C 34 35
  • 91.49 (n)
dog
(Canis familiaris)
Mammalia DENND2C 34 35
  • 90.77 (n)
mouse
(Mus musculus)
Mammalia Dennd2c 34 16 35
  • 84.03 (n)
rat
(Rattus norvegicus)
Mammalia Dennd2c 34
  • 83.99 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND2C 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND2C 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND2C 34 35
  • 68.21 (n)
lizard
(Anolis carolinensis)
Reptilia DENND2C 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd2c 34
  • 65.76 (n)
zebrafish
(Danio rerio)
Actinopterygii dennd2c 34 35
  • 56.8 (n)
Species where no ortholog for DENND2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DENND2C Gene

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

Paralogs for DENND2C Gene

(4) SIMAP similar genes for DENND2C Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DENND2C: view

Variants for DENND2C Gene

Sequence variations from dbSNP and Humsavar for DENND2C Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000019960 -- 114,595,276(+) GAGAT(C/T)GAGAC intron-variant
rs1000027087 -- 114,647,482(+) ATAGT(C/T)TCTAA intron-variant
rs1000036654 -- 114,588,305(+) TGTGC(C/T)AACTA intron-variant
rs1000115171 -- 114,592,601(+) TGTAG(A/G)CCCAG intron-variant
rs1000119486 -- 114,614,129(+) CAGGA(A/G)GCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DENND2C Gene

Variant ID Type Subtype PubMed ID
esv28734 CNV loss 19812545
esv3587266 CNV loss 21293372
esv3587267 CNV gain 21293372
esv3587269 CNV loss 21293372
esv3587270 CNV loss 21293372
esv3587271 CNV loss 21293372
esv3587272 CNV loss 21293372
nsv1113157 CNV deletion 24896259
nsv2498 CNV insertion 18451855
nsv478042 CNV novel sequence insertion 20440878
nsv831104 CNV loss 17160897

Variation tolerance for DENND2C Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DENND2C Gene

Human Gene Mutation Database (HGMD)
DENND2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND2C Gene

Disorders for DENND2C Gene

Relevant External Links for DENND2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND2C

No disorders were found for DENND2C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND2C Gene

Publications for DENND2C Gene

  1. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  5. Common genetic variants on 1p13.2 associate with risk of autism. (PMID: 24189344) Xia K. … Zhang F. (Mol. Psychiatry 2014) 3 64

Products for DENND2C Gene

Sources for DENND2C Gene

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