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Aliases for DENND6B Gene

Aliases for DENND6B Gene

  • DENN Domain Containing 6B 2 3 5
  • Family With Sequence Similarity 116, Member B 2 3
  • DENN Domain-Containing Protein 6B 3 4
  • DENN/MADD Domain Containing 6B 2 3
  • FAM116B 3 4
  • Protein DENND6B 3
  • Protein FAM116B 3
  • AFI1B 3

External Ids for DENND6B Gene

Previous HGNC Symbols for DENND6B Gene

  • FAM116B

Previous GeneCards Identifiers for DENND6B Gene

  • GC22M050751

Summaries for DENND6B Gene

GeneCards Summary for DENND6B Gene

DENND6B (DENN Domain Containing 6B) 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 DENND6A.

UniProtKB/Swiss-Prot for DENND6B Gene

  • Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND6B Gene

Genomics for DENND6B Gene

Regulatory Elements for DENND6B Gene

Enhancers for DENND6B 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
GH22G049942 2 FANTOM5 Ensembl ENCODE dbSUPER 19 +377.8 377848 13.5 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 TUBGCP6 ALG12 ENSG00000272836 DENND6B ZBED4 ENSG00000273192 LOC105373095 PIM3 PANX2 TRABD
GH22G050339 1 ENCODE 25.5 -13.1 -13135 2.1 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF585B GLIS1 MYNN NBN ZNF300 ALG12 TUBGCP6 DENND6B ENSG00000272836 ZBED4 PPP6R2 ENSG00000273192 LOC105373095 TRABD SHANK3
GH22G050626 1.3 ENCODE dbSUPER 19 -300.9 -300934 2.4 HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 GLIS2 KLF7 SP3 TUBGCP6 ENSG00000272836 ZBED4 LOC105373095 DENND6B ARSA ALG12 SHANK3 CPT1B MAPK8IP2
GH22G050292 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +26.0 25983 17.7 HDGF FOXA2 MLX AGO1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 PIM3 PLXNB2 TYMP DENND6B LOC105373100 ODF3B PPP6R2 MAPK12 MAPK11 ARSA
GH22G050330 1.5 FANTOM5 Ensembl ENCODE 13.6 -3.8 -3837 1.4 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF766 FOS REST SMARCA4 GLIS1 DENND6B ENSG00000273188 PPP6R2 RABL2B MOV10L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DENND6B on UCSC Golden Path with GeneCards custom track

Promoters for DENND6B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147714 89 1201 HDGF ATF1 ARNT CREB3L1 SIN3A DMAP1 ZNF48 ZNF121 ELK1 ZNF143

Genomic Location for DENND6B Gene

Chromosome:
22
Start:
50,309,030 bp from pter
End:
50,327,089 bp from pter
Size:
18,060 bases
Orientation:
Minus strand

Genomic View for DENND6B Gene

Genes around DENND6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND6B Gene

Proteins for DENND6B Gene

  • Protein details for DENND6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEG7-DEN6B_HUMAN
    Recommended name:
    Protein DENND6B
    Protein Accession:
    Q8NEG7
    Secondary Accessions:
    • A6X8I5

    Protein attributes for DENND6B Gene

    Size:
    585 amino acids
    Molecular mass:
    66464 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DENND6B Gene

Post-translational modifications for DENND6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DENND6B Gene

No data available for DME Specific Peptides for DENND6B Gene

Domains & Families for DENND6B Gene

Gene Families for DENND6B Gene

Protein Domains for DENND6B Gene

Suggested Antigen Peptide Sequences for DENND6B Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEG7

UniProtKB/Swiss-Prot:

DEN6B_HUMAN :
  • Belongs to the DENND6 family.
Family:
  • Belongs to the DENND6 family.
genes like me logo Genes that share domains with DENND6B: view

Function for DENND6B Gene

Molecular function for DENND6B Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35.

Gene Ontology (GO) - Molecular Function for DENND6B 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 DENND6B: view

Phenotypes for DENND6B Gene

GenomeRNAi human phenotypes for DENND6B:
genes like me logo Genes that share phenotypes with DENND6B: view

Animal Model 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 DENND6B Gene

Localization for DENND6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND6B 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 DENND6B gene
Compartment Confidence
cytosol 5
plasma membrane 3
endosome 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DENND6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0055037 recycling endosome IBA,IEA --
genes like me logo Genes that share ontologies with DENND6B: view

Pathways & Interactions for DENND6B Gene

genes like me logo Genes that share pathways with DENND6B: view

Pathways by source for DENND6B Gene

Interacting Proteins for DENND6B Gene

Selected Interacting proteins: Q8NEG7-DEN6B_HUMAN for DENND6B Gene via IID

Gene Ontology (GO) - Biological Process for DENND6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with DENND6B: view

No data available for SIGNOR curated interactions for DENND6B Gene

Drugs & Compounds for DENND6B Gene

No Compound Related Data Available

Transcripts for DENND6B Gene

mRNA/cDNA for DENND6B Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DENND6B Gene

DENN/MADD domain containing 6B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND6B Gene

No ASD Table

Relevant External Links for DENND6B Gene

GeneLoc Exon Structure for
DENND6B
ECgene alternative splicing isoforms for
DENND6B

Expression for DENND6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND6B Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DENND6B Gene



NURSA nuclear receptor signaling pathways regulating expression of DENND6B Gene:

DENND6B

SOURCE GeneReport for Unigene cluster for DENND6B Gene:

Hs.530380

Evidence on tissue expression from TISSUES for DENND6B Gene

  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with DENND6B: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein 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 DENND6B Gene

Orthologs for DENND6B Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND6B Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia FAM116B 34
  • 89.37 (n)
DENND6B 35
  • 58 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM116B 34
  • 88 (n)
DENND6B 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dennd6b 34
  • 86.95 (n)
mouse
(Mus musculus)
Mammalia Dennd6b 34 16 35
  • 86.15 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND6B 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND6B 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM116B 34
  • 76.3 (n)
DENND6B 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DENND6B 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd6b 34
  • 65.38 (n)
zebrafish
(Danio rerio)
Actinopterygii dennd6b 34 35
  • 69.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3309 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F53H1.3 34
  • 51.62 (n)
F53H1.3 35
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for DENND6B 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)
  • chimpanzee (Pan troglodytes)
  • 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 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 DENND6B Gene

ENSEMBL:
Gene Tree for DENND6B (if available)
TreeFam:
Gene Tree for DENND6B (if available)

Paralogs for DENND6B Gene

Paralogs for DENND6B Gene

(2) SIMAP similar genes for DENND6B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DENND6B: view

Variants for DENND6B Gene

Sequence variations from dbSNP and Humsavar for DENND6B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000154582 -- 50,311,810(+) ATGGG(C/T)ACCGG intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000228583 -- 50,310,782(+) TACTA(A/C)AAATA utr-variant-3-prime
rs1000255006 -- 50,311,668(+) CAAGT(C/T)GATGA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000666891 -- 50,311,125(+) ACCTG(C/T)TCCCG utr-variant-3-prime
rs1000839053 -- 50,320,739(+) TCTGC(A/C)CTGAG intron-variant, nc-transcript-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DENND6B Gene

Variant ID Type Subtype PubMed ID
dgv781n67 CNV gain 20364138
nsv589209 CNV loss 21841781
nsv955199 CNV deletion 24416366

Variation tolerance for DENND6B Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.46; 85.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DENND6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND6B Gene

Disorders for DENND6B Gene

Relevant External Links for DENND6B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND6B

No disorders were found for DENND6B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND6B Gene

Publications for DENND6B 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. 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. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 3 64
  5. The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines. (PMID: 25260751) Charlaftis N. … Gallagher E. (EMBO J. 2014) 3 64

Products for DENND6B Gene

Sources for DENND6B Gene

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