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Aliases for DENND2D Gene

Aliases for DENND2D Gene

  • DENN Domain Containing 2D 2 3 5
  • DENN/MADD Domain Containing 2D 2 3
  • DENN Domain-Containing Protein 2D 3
  • RP5-1180E21.2 3

External Ids for DENND2D Gene

Previous GeneCards Identifiers for DENND2D Gene

  • GC01M111442
  • GC01M111531
  • GC01M111729
  • GC01M109601

Summaries for DENND2D Gene

GeneCards Summary for DENND2D Gene

DENND2D (DENN Domain Containing 2D) 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 ST5.

UniProtKB/Swiss-Prot for DENND2D 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 , fRNAdb sequence ontologies and piRNA Summary for DENND2D Gene

Genomics for DENND2D Gene

Regulatory Elements for DENND2D Gene

Enhancers for DENND2D 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
GH01G111189 2 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +6.7 6691 16.6 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DRAM2 CEPT1 CHI3L2 DDX20 DENND2D CD53 LRIF1 RAP1A C1orf162 PIR46223
GH01G111138 1.4 ENCODE dbSUPER 15.8 +64.1 64066 4.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B DRAM2 DENND2D CHI3L2 OVGP1 LOC440600 ENSG00000272982
GH01G111212 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -17.0 -16956 19.3 CREB3L1 MLX DMAP1 FEZF1 YBX1 YY1 ZNF143 ZNF263 SP3 TBX21 CHI3L2 DDX20 CEPT1 LOC105378903 ENSG00000232240 PIFO WDR77 ATP5F1 ENSG00000243960 OVGP1
GH01G111177 0.8 dbSUPER 16.9 +25.3 25276 3.3 ELF3 KLF1 PKNOX1 SAP130 ZSCAN4 CEBPG SALL2 ZBTB48 POLR2A ADNP DENND2D CHI3L2 OVGP1 DRAM2 ENSG00000272982
GH01G111234 1.1 ENCODE dbSUPER 11.2 -31.5 -31516 3.9 ELF3 FOXA2 ARID4B SIN3A RAD21 DNMT3B THRB RARA GATA4 RCOR1 CHI3L2 DENND2D LOC105378903 ENSG00000232240 OVGP1 ATP5F1 WDR77 CHIAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DENND2D on UCSC Golden Path with GeneCards custom track

Promoters for DENND2D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000253563 691 1001 ATF1 ARID4B ZNF2 GATA2 ZNF143 ZNF207 ZNF263 NBN HMBOX1 HNF4A

Genomic Location for DENND2D Gene

Chromosome:
1
Start:
111,185,969 bp from pter
End:
111,204,791 bp from pter
Size:
18,823 bases
Orientation:
Minus strand

Genomic View for DENND2D Gene

Genes around DENND2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND2D Gene

Proteins for DENND2D Gene

  • Protein details for DENND2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6A0-DEN2D_HUMAN
    Recommended name:
    DENN domain-containing protein 2D
    Protein Accession:
    Q9H6A0
    Secondary Accessions:
    • Q5T5V6
    • Q9BSU0

    Protein attributes for DENND2D Gene

    Size:
    471 amino acids
    Molecular mass:
    53672 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DENND2D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND2D Gene

Post-translational modifications for DENND2D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DENND2D Gene

Domains & Families for DENND2D Gene

Gene Families for DENND2D Gene

Protein Domains for DENND2D Gene

Suggested Antigen Peptide Sequences for DENND2D Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DENND2D: view

No data available for UniProtKB/Swiss-Prot for DENND2D Gene

Function for DENND2D Gene

Molecular function for DENND2D 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.

Gene Ontology (GO) - Molecular Function for DENND2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
genes like me logo Genes that share ontologies with DENND2D: view
genes like me logo Genes that share phenotypes with DENND2D: view

Animal Models for DENND2D Gene

MGI Knock Outs for DENND2D:

Animal Model Products

CRISPR Products

miRNA for DENND2D Gene

miRTarBase miRNAs that target DENND2D

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DENND2D Gene

Localization for DENND2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND2D Gene

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 DENND2D gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DENND2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DENND2D: view

Pathways & Interactions for DENND2D Gene

genes like me logo Genes that share pathways with DENND2D: view

Pathways by source for DENND2D Gene

Gene Ontology (GO) - Biological Process for DENND2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DENND2D: view

No data available for SIGNOR curated interactions for DENND2D Gene

Drugs & Compounds for DENND2D Gene

No Compound Related Data Available

Transcripts for DENND2D Gene

Unigene Clusters for DENND2D Gene

DENN/MADD domain containing 2D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND2D Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8:
SP9: - - - - - - - - - -
SP10: - - - - - -
SP11: - - - -
SP12: -
SP13:
SP14: -

ExUns: 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for DENND2D Gene

GeneLoc Exon Structure for
DENND2D
ECgene alternative splicing isoforms for
DENND2D

Expression for DENND2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND2D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DENND2D Gene

This gene is overexpressed in Whole Blood (x8.7) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for DENND2D Gene

This gene is overexpressed in CD8 Tcells (17.0), Peripheral blood mononuclear cells (15.6), and NK cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DENND2D Gene



Protein tissue co-expression partners for DENND2D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DENND2D Gene:

DENND2D

SOURCE GeneReport for Unigene cluster for DENND2D Gene:

Hs.557850

mRNA Expression by UniProt/SwissProt for DENND2D Gene:

Q9H6A0-DEN2D_HUMAN
Tissue specificity: In bronchial mucosa, mainly expressed in ciliated and basal epithelial cells and weakly in alveolar cells (at protein level). Tends to be down-regulated in lung cancers, immortalized bronchial epithelial cell lines and precancerous lesions.

Evidence on tissue expression from TISSUES for DENND2D Gene

  • Liver(4.1)
  • Intestine(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with DENND2D: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND2D Gene

Orthologs for DENND2D Gene

This gene was present in the common ancestor of chordates.

Orthologs for DENND2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND2D 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia DENND2D 34 35
  • 90.48 (n)
cow
(Bos Taurus)
Mammalia DENND2D 34 35
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Dennd2d 34 16 35
  • 86.16 (n)
rat
(Rattus norvegicus)
Mammalia Dennd2d 34
  • 86.02 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND2D 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND2D 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND2D 34 35
  • 70.58 (n)
lizard
(Anolis carolinensis)
Reptilia DENND2D 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd2d 34
  • 62.18 (n)
zebrafish
(Danio rerio)
Actinopterygii dennd2da 34 35
  • 59.27 (n)
dennd2db 35
  • 42 (a)
OneToMany
Species where no ortholog for DENND2D 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)
  • 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 squirt (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 DENND2D Gene

ENSEMBL:
Gene Tree for DENND2D (if available)
TreeFam:
Gene Tree for DENND2D (if available)

Paralogs for DENND2D Gene

(4) SIMAP similar genes for DENND2D Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DENND2D: view

Variants for DENND2D Gene

Sequence variations from dbSNP and Humsavar for DENND2D Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000014248 -- 111,201,067(+) GGCCA(A/T)ACACT intron-variant, upstream-variant-2KB
rs1000052281 -- 111,205,291(+) GGTTT(C/T)AGGGT intron-variant, upstream-variant-2KB
rs1000107183 -- 111,192,518(+) GAGGC(C/T)TCACT intron-variant
rs1000172709 -- 111,205,065(+) CCTTC(C/T)AATCC intron-variant, upstream-variant-2KB
rs1000310503 -- 111,192,859(+) CACAC(A/G)GCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DENND2D Gene

Variant ID Type Subtype PubMed ID
nsv1003363 CNV loss 25217958
nsv10639 CNV gain 18304495
nsv463250 CNV loss 19166990
nsv547535 CNV loss 21841781

Variation tolerance for DENND2D Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DENND2D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND2D Gene

Disorders for DENND2D Gene

Relevant External Links for DENND2D

Genetic Association Database (GAD)
DENND2D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND2D

No disorders were found for DENND2D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND2D Gene

Publications for DENND2D Gene

  1. Suppression of non-small cell lung cancer proliferation and tumorigenicity by DENND2D. (PMID: 23182661) Ling B. … Zhang K. (Lung Cancer 2013) 3 4 64
  2. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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

Products for DENND2D Gene

Sources for DENND2D Gene

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