Aliases for DENND2C Gene

Aliases for DENND2C Gene

  • DENN Domain Containing 2C 2 3 5
  • DENN Domain-Containing Protein 2C 3 4
  • DENN/MADD Domain Containing 2C 2 3
  • RP5-1156J9.1 2 3
  • DJ1156J9.1 2 3
  • DKFZp686G0351 2
  • DKFZp779P1149 2
  • FLJ37099 2
  • DENND2C 5

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. Diseases associated with DENND2C include Neuropathy, Hereditary Sensory And Autonomic, Type V and Noonan Syndrome 6. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND2A.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DENND2C Gene

Genomics for DENND2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DENND2C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J114667 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 258.1 +0.6 599 3.7 SP1 ZNF654 IKZF1 ZNF600 ZNF10 BRCA1 POLR2A NFIC ZBTB10 YY1 DENND2C lnc-DENND2C-1 AMPD1 TRIM33 TSPAN2 NGF-AS1 HSALNG0006230 BCAS2
GH01J114580 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +88.8 88844 2.4 MYC SIX5 JUND ZNF592 ATF2 POLR2A CEBPA ATF3 BRCA1 ZBTB10 BCAS2 HSALNG0006229 LOC105378914 lnc-SYCP1-2 TRIM33 AMPD1 DENND2C HSALNG0006228
GH01J114715 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -46.0 -45994 2.4 LARP7 SP1 ZNF207 NCOR1 MYC SIX5 ZNF592 POLR2A ATF3 BRCA1 NRAS TRIM33 TSPAN2 SIKE1 DENND2C CSDE1 RSBN1 piR-43107-020 AMPD1
GH01J114693 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -24.6 -24570 2 SMARCA4 ZSCAN4 ZNF660 RNF2 COPS2 RUNX3 PRDM1 AMPD1 DENND2C HSALNG0006232
GH01J114464 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 +203.1 203122 5 LARP7 CEBPA ZNF10 CHD4 FOXA1 SIX4 HOMEZ KMT2B RAD51 THAP11 EIF2S2P5 TRIM33 DENND2C AMPD1 TSHB lnc-SYCP1-3 SYT6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DENND2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DENND2C

Top Transcription factor binding sites by QIAGEN in the DENND2C gene promoter:
  • c-Myb
  • E4BP4
  • Evi-1
  • FAC1
  • FOXI1
  • GATA-2
  • HFH-3
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for DENND2C Gene

Latest Assembly
chr1:114,582,848-114,670,422
(GRCh38/hg38)
Size:
87,575 bases
Orientation:
Minus strand

Previous Assembly
chr1:115,125,471-115,212,670
(GRCh37/hg19 by Entrez Gene)
Size:
87,200 bases
Orientation:
Minus strand

chr1:115,125,469-115,213,043
(GRCh37/hg19 by Ensembl)
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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DENND2C Gene

Suggested Antigen Peptide Sequences for DENND2C Gene

GenScript: Design optimal peptide antigens:
  • DENN domain-containing protein 2C (DEN2C_HUMAN)
genes like me logo Genes that share domains with DENND2C: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for DENND2C Gene

Gene Ontology (GO) - Molecular Function for DENND2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IBA,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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND2C

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 3
cytoskeleton 1
cytosol 1
lysosome 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DENND2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with DENND2C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Biological Process for DENND2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic 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

mRNA/cDNA for DENND2C Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND2C

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

No ASD Table

Relevant External Links for DENND2C Gene

GeneLoc Exon Structure for
DENND2C

Expression for DENND2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DENND2C Gene



Protein tissue co-expression partners for DENND2C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 29 30
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DENND2C 29 30
  • 91.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DENND2C 29 30
  • 90.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dennd2c 29 16 30
  • 84.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dennd2c 29
  • 83.99 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DENND2C 30
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DENND2C 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DENND2C 29 30
  • 68.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DENND2C 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dennd2c 29
  • 65.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii dennd2c 29 30
  • 56.8 (n)
OneToOne
Species where no ortholog for DENND2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for DENND2C: view image
Alliance of Genome Resources:
Additional Orthologs for DENND2C

Paralogs for DENND2C Gene

Paralogs for DENND2C Gene

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

  • DEN2C_HUMAN
  • C9JPG4_HUMAN
genes like me logo Genes that share paralogs with DENND2C: view

Variants for DENND2C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DENND2C Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12136548 -- p.Asp170Gly
rs7541738 -- p.Asp2Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DENND2C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DENND2C Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DENND2C Gene

MalaCards: The human disease database

(2) MalaCards diseases for DENND2C Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DENND2C

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

No data available for 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 FA (The Journal of cell biology 2010) 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. (PMID: 31462741) Dho SE … McGlade CJ (Scientific reports 2019) 3

Products for DENND2C Gene

Sources for DENND2C Gene