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Aliases for DENND6A Gene

Aliases for DENND6A Gene

  • DENN Domain Containing 6A 2 3 5
  • Family With Sequence Similarity 116, Member A 2 3
  • DENN Domain-Containing Protein 6A 3 4
  • DENN/MADD Domain Containing 6A 2 3
  • FAM116A 3 4
  • Protein DENND6A 3
  • Protein FAM116A 3
  • AFI1A 3

External Ids for DENND6A Gene

Previous HGNC Symbols for DENND6A Gene

  • FAM116A

Summaries for DENND6A Gene

GeneCards Summary for DENND6A Gene

DENND6A (DENN Domain Containing 6A) 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 DENND6B.

UniProtKB/Swiss-Prot for DENND6A Gene

  • Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND6A Gene

Genomics for DENND6A Gene

Regulatory Elements for DENND6A Gene

Enhancers for DENND6A 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
GH03G058348 2 FANTOM5 Ensembl ENCODE dbSUPER 44.5 -657.5 -657484 3.7 HDGF FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF143 ZNF416 FOS ZNF263 DENND6A FLNB-AS1 KCTD6 RPP14 PXK FLNB DNASE1L3 ABHD6 PDHB LOC105377106
GH03G058332 1.4 ENCODE dbSUPER 44.5 -641.4 -641371 4.6 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF766 CBX5 ZNF416 DENND6A KCTD6 RPP14 FLNB-AS1 HTD2 PXK ABHD6 ACOX2 ENSG00000272182 ENSG00000273493
GH03G058046 2 FANTOM5 Ensembl ENCODE dbSUPER 20.5 -358.1 -358116 9.0 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 FLNB-AS1 FLNB DENND6A PXK GC03P058010
GH03G057594 1.4 ENCODE dbSUPER 23.8 +95.5 95518 6.0 CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D GLIS1 DENND6A ARF4 FAM208A DENND6A-AS1 PDE12 LOC101929159 APPL1 HESX1 FLNB DNAH12
GH03G058064 1.5 Ensembl ENCODE dbSUPER 20.5 -373.5 -373519 5.0 ARID4B SIN3A FEZF1 ZNF48 YY1 TCF12 GATA2 FOS ZNF548 ZNF263 DENND6A FLNB-AS1 FLNB RPP14 ARF4 GC03P058010
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DENND6A on UCSC Golden Path with GeneCards custom track

Promoters for DENND6A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000153094 689 2401 HDGF HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207

Genomic Location for DENND6A Gene

Chromosome:
3
Start:
57,625,454 bp from pter
End:
57,693,089 bp from pter
Size:
67,636 bases
Orientation:
Minus strand

Genomic View for DENND6A Gene

Genes around DENND6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND6A Gene

Proteins for DENND6A Gene

  • Protein details for DENND6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWF6-DEN6A_HUMAN
    Recommended name:
    Protein DENND6A
    Protein Accession:
    Q8IWF6
    Secondary Accessions:
    • Q7Z5T4
    • Q8N235
    • Q8TEG8

    Protein attributes for DENND6A Gene

    Size:
    608 amino acids
    Molecular mass:
    69575 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84982.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03852.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for DENND6A Gene

Post-translational modifications for DENND6A Gene

  • Ubiquitination at isoforms=360
  • Modification sites at PhosphoSitePlus

Other Protein References for DENND6A Gene

No data available for DME Specific Peptides for DENND6A Gene

Domains & Families for DENND6A Gene

Gene Families for DENND6A Gene

Protein Domains for DENND6A Gene

Suggested Antigen Peptide Sequences for DENND6A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWF6

UniProtKB/Swiss-Prot:

DEN6A_HUMAN :
  • Belongs to the DENND6 family.
Family:
  • Belongs to the DENND6 family.
genes like me logo Genes that share domains with DENND6A: view

Function for DENND6A Gene

Molecular function for DENND6A Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes.

Gene Ontology (GO) - Molecular Function for DENND6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017112 Rab guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with DENND6A: view
genes like me logo Genes that share phenotypes with DENND6A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DENND6A Gene

Localization for DENND6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND6A Gene

Recycling endosome. Cytoplasm.

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 DENND6A gene
Compartment Confidence
cytosol 5
endosome 5
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DENND6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 22595670
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0055037 recycling endosome IDA,IEA 22595670
genes like me logo Genes that share ontologies with DENND6A: view

Pathways & Interactions for DENND6A Gene

genes like me logo Genes that share pathways with DENND6A: view

Pathways by source for DENND6A Gene

Gene Ontology (GO) - Biological Process for DENND6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:0061024 membrane organization TAS --
GO:2000049 positive regulation of cell-cell adhesion mediated by cadherin IDA 22595670
genes like me logo Genes that share ontologies with DENND6A: view

No data available for SIGNOR curated interactions for DENND6A Gene

Drugs & Compounds for DENND6A Gene

No Compound Related Data Available

Transcripts for DENND6A Gene

Unigene Clusters for DENND6A Gene

DENN/MADD domain containing 6A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND6A Gene

No ASD Table

Relevant External Links for DENND6A Gene

GeneLoc Exon Structure for
DENND6A
ECgene alternative splicing isoforms for
DENND6A

Expression for DENND6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND6A Gene

Protein differential expression in normal tissues from HIPED for DENND6A Gene

This gene is overexpressed in Breast (48.2) and Pancreatic juice (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DENND6A Gene



NURSA nuclear receptor signaling pathways regulating expression of DENND6A Gene:

DENND6A

SOURCE GeneReport for Unigene cluster for DENND6A Gene:

Hs.91085

Evidence on tissue expression from TISSUES for DENND6A Gene

  • Spleen(4.3)
genes like me logo Genes that share expression patterns with DENND6A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND6A Gene

Orthologs for DENND6A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DENND6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND6A 34 35
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia DENND6A 35
  • 95 (a)
OneToOne
FAM116A 34
  • 93.91 (n)
dog
(Canis familiaris)
Mammalia DENND6A 35
  • 95 (a)
OneToOne
FAM116A 34
  • 94.02 (n)
mouse
(Mus musculus)
Mammalia Dennd6a 34 16 35
  • 90.96 (n)
rat
(Rattus norvegicus)
Mammalia Dennd6a 34
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND6A 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND6A 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND6A 34 35
  • 79.06 (n)
lizard
(Anolis carolinensis)
Reptilia DENND6A 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd6a 34
  • 72.56 (n)
Str.6642 34
zebrafish
(Danio rerio)
Actinopterygii DENND6A (2 of 2) 35
  • 82 (a)
OneToMany
dennd6aa 35
  • 71 (a)
OneToMany
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10385 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007682 34
  • 53.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3309 34 35
  • 49.91 (n)
worm
(Caenorhabditis elegans)
Secernentea F53H1.3 35
  • 42 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G73930 34
  • 46.59 (n)
rice
(Oryza sativa)
Liliopsida Os03g0259700 34
  • 45.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for DENND6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DENND6A Gene

ENSEMBL:
Gene Tree for DENND6A (if available)
TreeFam:
Gene Tree for DENND6A (if available)

Paralogs for DENND6A Gene

Paralogs for DENND6A Gene

(2) SIMAP similar genes for DENND6A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DENND6A: view

Variants for DENND6A Gene

Sequence variations from dbSNP and Humsavar for DENND6A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000090389 -- 57,663,028(+) GTAAT(A/C)CCAGC intron-variant
rs1000121583 -- 57,663,353(+) CCAGC(C/T)ACTTG intron-variant
rs1000206469 -- 57,688,207(+) GCTAC(A/G)GCGGT intron-variant
rs1000238938 -- 57,629,400(+) CCTCA(C/T)ATTTA intron-variant
rs1000291555 -- 57,669,943(+) TTGAA(A/C)TGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DENND6A Gene

Variant ID Type Subtype PubMed ID
esv3596235 CNV loss 21293372
nsv1008684 CNV gain 25217958
nsv834701 CNV loss 17160897

Variation tolerance for DENND6A Gene

Residual Variation Intolerance Score: 21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DENND6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND6A Gene

Disorders for DENND6A Gene

Relevant External Links for DENND6A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND6A

No disorders were found for DENND6A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND6A Gene

Publications for DENND6A Gene

  1. DENN domain proteins: regulators of Rab GTPases. (PMID: 21330364) Marat A.L. … McPherson P.S. (J. Biol. Chem. 2011) 2 3 4 64
  2. Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. (PMID: 22595670) Linford A. … Barr F.A. (Dev. Cell 2012) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for DENND6A Gene

Sources for DENND6A Gene

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