Aliases for DENND4C Gene

Aliases for DENND4C Gene

  • DENN Domain Containing 4C 2 3 5
  • DENN Domain-Containing Protein 4C 3 4
  • DENN/MADD Domain Containing 4C 2 3
  • BA513M16.3 2 3
  • C9orf55B 3 4
  • RAB10GEF 2 3
  • C9orf55 3 4
  • DENN/MADD Domain Containing 4A Pseudogene 3
  • Chromosome 9 Open Reading Frame 55B 2
  • Chromosome 9 Open Reading Frame 55 2
  • FLJ20686 2
  • DENND4C 5

External Ids for DENND4C Gene

Previous HGNC Symbols for DENND4C Gene

  • C9orf55B
  • C9orf55

Previous GeneCards Identifiers for DENND4C Gene

  • GC09P019281
  • GC09P019252
  • GC09P019289

Summaries for DENND4C Gene

GeneCards Summary for DENND4C Gene

DENND4C (DENN Domain Containing 4C) is a Protein Coding gene. Diseases associated with DENND4C include Alkuraya-Kucinskas Syndrome and Koolen-De Vries Syndrome. 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 DENND4A.

UniProtKB/Swiss-Prot Summary for DENND4C Gene

  • Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DENND4C Gene

Genomics for DENND4C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DENND4C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DENND4C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DENND4C

Top Transcription factor binding sites by QIAGEN in the DENND4C gene promoter:
  • AML1a
  • AREB6
  • c-Ets-1
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-6
  • HFH-1
  • Ik-3
  • ISGF-3

Genomic Locations for DENND4C Gene

Latest Assembly
chr9:19,230,435-19,374,281
(GRCh38/hg38)
Size:
143,847 bases
Orientation:
Plus strand

Previous Assembly
chr9:19,230,511-19,374,279
(GRCh37/hg19 by Entrez Gene)
Size:
143,769 bases
Orientation:
Plus strand

chr9:19,230,433-19,374,139
(GRCh37/hg19 by Ensembl)
Size:
143,707 bases
Orientation:
Plus strand

Genomic View for DENND4C Gene

Genes around DENND4C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND4C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND4C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND4C Gene

Proteins for DENND4C Gene

  • Protein details for DENND4C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZ89-DEN4C_HUMAN
    Recommended name:
    DENN domain-containing protein 4C
    Protein Accession:
    Q5VZ89
    Secondary Accessions:
    • A2A3R1
    • A2A3R2
    • A2A3R3
    • A2A3R9
    • Q6AI48
    • Q6ZUB3
    • Q8NCY7
    • Q9H6N4
    • Q9NUT1
    • Q9NWA5
    • Q9NWT3
    • R4GN35
    • R4GNB2

    Protein attributes for DENND4C Gene

    Size:
    1909 amino acids
    Molecular mass:
    212711 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91294.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91478.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92039.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15221.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86313.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10466.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for DENND4C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND4C Gene

Post-translational modifications for DENND4C Gene

No data available for DME Specific Peptides for DENND4C Gene

Domains & Families for DENND4C Gene

Gene Families for DENND4C Gene

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

Protein Domains for DENND4C Gene

Suggested Antigen Peptide Sequences for DENND4C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53183 (B7Z660_HUMAN)
  • DENN domain-containing protein 4C (DEN4C_HUMAN)
genes like me logo Genes that share domains with DENND4C: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DENND4C Gene

Function for DENND4C Gene

Molecular function for DENND4C Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.

Phenotypes From GWAS Catalog for DENND4C Gene

Gene Ontology (GO) - Molecular Function for DENND4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IBA,IDA 20937701
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with DENND4C: view
genes like me logo Genes that share phenotypes with DENND4C: view

Animal Models for DENND4C Gene

MGI Knock Outs for DENND4C:
  • Dennd4c Dennd4c<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND4C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DENND4C Gene

Localization for DENND4C Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND4C Gene

Cytoplasmic vesicle membrane. Cell membrane. Cytoplasm, cytosol. Note=Associates with SLC2A4/GLUT4 storage vesicles.

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 DENND4C gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 4
endosome 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DENND4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DENND4C: view

Pathways & Interactions for DENND4C Gene

genes like me logo Genes that share pathways with DENND4C: view

Pathways by source for DENND4C Gene

Gene Ontology (GO) - Biological Process for DENND4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0032483 regulation of Rab protein signal transduction IBA 21873635
GO:0032869 cellular response to insulin stimulus ISS --
GO:0050790 regulation of catalytic activity IEA --
GO:0072659 protein localization to plasma membrane ISS --
genes like me logo Genes that share ontologies with DENND4C: view

No data available for SIGNOR curated interactions for DENND4C Gene

Drugs & Compounds for DENND4C Gene

No Compound Related Data Available

Transcripts for DENND4C Gene

mRNA/cDNA for DENND4C Gene

21 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
9 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 DENND4C

Alternative Splicing Database (ASD) splice patterns (SP) for DENND4C Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ·
SP1: - -
SP2: - - - - - - - - - - - - - - - - - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8: -
SP9:

ExUns: 18c ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: - -
SP2: - - - - - - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for DENND4C Gene

GeneLoc Exon Structure for
DENND4C

Expression for DENND4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DENND4C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DENND4C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.0) and CD8 Tcells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DENND4C Gene



Protein tissue co-expression partners for DENND4C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DENND4C

SOURCE GeneReport for Unigene cluster for DENND4C Gene:

Hs.249591

Evidence on tissue expression from TISSUES for DENND4C Gene

  • Liver(4.2)
  • Lymph node(4.2)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with DENND4C: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND4C Gene

Orthologs for DENND4C Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND4C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DENND4C 29 30
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DENND4C 29 30
  • 92.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DENND4C 29 30
  • 91.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dennd4c 29 16 30
  • 86.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1308489 29
  • 85.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia DENND4C 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 62 (a)
OneToMany
-- 30
  • 52 (a)
OneToMany
Chicken
(Gallus gallus)
Aves DENND4C 29 30
  • 74.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DENND4C 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dennd4c 29
  • 67.73 (n)
Str.16012 29
Zebrafish
(Danio rerio)
Actinopterygii dennd4c 29 30
  • 63.43 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Crag 30
  • 36 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea denn-4 30
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1014 30
  • 37 (a)
OneToMany
Species where no ortholog for DENND4C 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)
  • 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 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)

Evolution for DENND4C Gene

ENSEMBL:
Gene Tree for DENND4C (if available)
TreeFam:
Gene Tree for DENND4C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DENND4C: view image
Alliance of Genome Resources:
Additional Orthologs for DENND4C

Paralogs for DENND4C Gene

Paralogs for DENND4C Gene

(2) SIMAP similar genes for DENND4C Gene using alignment to 4 proteins:

  • DEN4C_HUMAN
  • R4GMN2_HUMAN
  • R4GN35_HUMAN
  • R4GNB2_HUMAN
genes like me logo Genes that share paralogs with DENND4C: view

Variants for DENND4C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DENND4C Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs17818730 -- p.Thr1266Ala
rs34267952 -- p.Val1227Gly
rs6475322 -- p.Asn1343His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DENND4C 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 DENND4C Gene

Variant ID Type Subtype PubMed ID
esv1060561 CNV insertion 17803354
esv1745994 CNV deletion 17803354
esv2302206 CNV deletion 18987734
esv24621 CNV loss 19812545
esv2665168 CNV deletion 23128226
esv2668263 CNV deletion 23128226
esv2677622 CNV deletion 23128226
esv2738259 CNV deletion 23290073
esv28580 CNV loss 19812545
esv3544632 CNV deletion 23714750
esv3544634 CNV deletion 23714750
esv3573165 CNV loss 25503493
esv3619900 CNV loss 21293372
esv3619901 CNV gain 21293372
esv3619902 CNV loss 21293372
esv3619903 CNV loss 21293372
esv3619904 CNV loss 21293372
esv3619905 CNV gain 21293372
esv3619906 CNV loss 21293372
esv3619907 CNV gain 21293372
esv3619908 CNV loss 21293372
esv3619909 CNV loss 21293372
nsv1024948 CNV loss 25217958
nsv1029922 CNV gain 25217958
nsv1030736 CNV gain 25217958
nsv1074852 CNV deletion 25765185
nsv466286 CNV gain 19166990
nsv613729 CNV gain 21841781
nsv613730 CNV gain 21841781
nsv824872 CNV loss 20364138

Variation tolerance for DENND4C Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.86; 83.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DENND4C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND4C
Leiden Open Variation Database (LOVD)
DENND4C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND4C Gene

Disorders for DENND4C Gene

MalaCards: The human disease database

(2) MalaCards diseases for DENND4C Gene - From: COP

Disorder Aliases PubMed IDs
alkuraya-kucinskas syndrome
  • alkkucs
koolen-de vries syndrome
  • kdvs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DENND4C

genes like me logo Genes that share disorders with DENND4C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DENND4C Gene

Publications for DENND4C Gene

  1. Insulin-stimulated GLUT4 protein translocation in adipocytes requires the Rab10 guanine nucleotide exchange factor Dennd4C. (PMID: 21454697) Sano H … Lienhard GE (The Journal of biological chemistry 2011) 2 3
  2. 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
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for DENND4C Gene

Sources for DENND4C Gene