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
  • Protein DENND6A 3 4
  • FAM116A 3 4
  • AFI1A 2 3
  • Protein FAM116A 3
  • FLJ34969 2
  • DENND6A 5

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. Diseases associated with DENND6A include Bleeding Disorder, Platelet-Type, 11. 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 DENND6B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DENND6A Gene

Genomics for DENND6A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DENND6A 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 DENND6A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DENND6A

Genomic Locations for DENND6A Gene

Latest Assembly
chr3:57,625,454-57,693,118
(GRCh38/hg38)
Size:
67,665 bases
Orientation:
Minus strand

Previous Assembly
chr3:57,611,181-57,678,804
(GRCh37/hg19 by Entrez Gene)
Size:
67,624 bases
Orientation:
Minus strand

chr3:57,611,184-57,678,816
(GRCh37/hg19 by Ensembl)
Size:
67,633 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03852.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for DENND6A Gene

Post-translational modifications for DENND6A Gene

  • Ubiquitination at Lys360
  • 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

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

Protein Domains for DENND6A Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1630

Suggested Antigen Peptide Sequences for DENND6A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM116A (F116A_HUMAN)

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.

Phenotypes From GWAS Catalog for DENND6A Gene

Gene Ontology (GO) - Molecular Function for DENND6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IBA,IDA 22595670
GO:0017112 Rab guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with DENND6A: view
genes like me logo Genes that share phenotypes with DENND6A: view

miRNA for DENND6A Gene

miRTarBase miRNAs that target DENND6A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND6A

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
endosome 5
cytosol 4
cytoskeleton 1
peroxisome 1
nucleus 1
golgi apparatus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DENND6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22595670
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0055037 recycling endosome IBA,IDA 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:0050790 regulation of catalytic activity IEA --
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

mRNA/cDNA for DENND6A Gene

1 REFSEQ mRNAs :
6 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 DENND6A

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

No ASD Table

Relevant External Links for DENND6A Gene

GeneLoc Exon Structure for
DENND6A

Expression for DENND6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DENND6A Gene



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

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 29 30
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DENND6A 30
  • 95 (a)
OneToOne
FAM116A 29
  • 93.91 (n)
Dog
(Canis familiaris)
Mammalia DENND6A 30
  • 95 (a)
OneToOne
FAM116A 29
  • 94.02 (n)
Mouse
(Mus musculus)
Mammalia Dennd6a 29 16 30
  • 90.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dennd6a 29
  • 90.25 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DENND6A 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DENND6A 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DENND6A 29 30
  • 79.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DENND6A 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dennd6a 29
  • 72.56 (n)
Str.6642 29
Zebrafish
(Danio rerio)
Actinopterygii DENND6A (2 of 2) 30
  • 82 (a)
OneToMany
dennd6aa 30
  • 71 (a)
OneToMany
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10385 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007682 29
  • 53.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3309 29 30
  • 49.91 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F53H1.3 30
  • 42 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G73930 29
  • 46.59 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0259700 29
  • 45.93 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
OneToMany
Species where no ortholog for DENND6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DENND6A: view image
Alliance of Genome Resources:
Additional Orthologs for DENND6A

Paralogs for DENND6A Gene

Paralogs for DENND6A Gene

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

  • DEN6A_HUMAN
  • H7C598_HUMAN
  • H7C5D0_HUMAN
genes like me logo Genes that share paralogs with DENND6A: view

Variants for DENND6A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DENND6A 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 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)

Additional Variant Information for DENND6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND6A
Leiden Open Variation Database (LOVD)
DENND6A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DENND6A Gene

Disorders for DENND6A Gene

MalaCards: The human disease database

(1) MalaCards diseases for DENND6A Gene - From: COP

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 11
  • bdplt11
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DENND6A

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

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

Publications for DENND6A Gene

  1. DENN domain proteins: regulators of Rab GTPases. (PMID: 21330364) Marat AL … McPherson PS (The Journal of biological chemistry 2011) 2 3 4
  2. Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. (PMID: 22595670) Linford A … Barr FA (Developmental cell 2012) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3

Products for DENND6A Gene

  • Biorbyt antibodies for DENND6A

Sources for DENND6A Gene