Free for academic non-profit institutions. Other users need a Commercial license

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 RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. Gene Ontology (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.

Additional gene information for DENND2D Gene

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

GeneHancer (GH) Regulatory Elements for DENND2D Gene

Promoters and enhancers for DENND2D Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J111189 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 670.5 +6.7 6691 16.6 HDGF PKNOX1 FOXA2 SMAD1 IRF4 ZNF766 ZNF207 ZNF143 FOS CEBPZ DENND2D PIR46223 DRAM2 CEPT1 CHI3L2 DDX20 CD53 ENSG00000243960 LRIF1 RAP1A
GH01J111445 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20.1 -243.5 -243495 4.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 WDR77 PIR44385 GC01P111451 GC01P111450 GC01P111447 ENSG00000199890 ATP5PB OVGP1 ENSG00000260948 DENND2D
GH01J111138 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.8 +64.1 64065 4.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 DRAM2 CEPT1 DDX20 DENND2D ENSG00000243960 CHI3L2 RBM15 OVGP1 RBM15-AS1 ENSG00000272982
GH01J110334 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +866.1 866142 7.4 CLOCK FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC PPARGC1A MEF2D RBM15 PIR47446 RBM15-AS1 GC01P110337 ENSG00000258634 STRIP1 CEPT1 ENSG00000273373 DRAM2 UBL4B
GH01J111754 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 -551.0 -551010 2.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 MEF2D DDX20 LOC101928718 INKA2 ST7L DRAM2 DENND2D CAPZA1 CEPT1 INKA2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DENND2D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DENND2D gene promoter:
  • oct-B2
  • POU2F2C
  • Oct-B1
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • AREB6

Genomic Locations for DENND2D Gene

Genomic Locations for DENND2D Gene
chr1:111,185,969-111,204,791
(GRCh38/hg38)
Size:
18,823 bases
Orientation:
Minus strand
chr1:111,729,796-111,747,157
(GRCh37/hg19)
Size:
17,362 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

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

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.

Phenotypes From GWAS Catalog for DENND2D Gene

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

miRNA for DENND2D Gene

miRTarBase miRNAs that target DENND2D

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

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:0065009 regulation of molecular function 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

mRNA/cDNA for DENND2D Gene

Unigene Clusters for DENND2D Gene

DENN/MADD domain containing 2D:
Representative Sequences:

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, 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

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 33
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DENND2D 34 33
  • 90.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DENND2D 34 33
  • 88.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd2d 16 34 33
  • 86.16 (n)
rat
(Rattus norvegicus)
Mammalia Dennd2d 33
  • 86.02 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND2D 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND2D 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND2D 34 33
  • 70.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DENND2D 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd2d 33
  • 62.18 (n)
zebrafish
(Danio rerio)
Actinopterygii dennd2da 34 33
  • 59.27 (n)
OneToMany
dennd2db 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DENND2D: view image

Paralogs for DENND2D Gene

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

  • DEN2D_HUMAN
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 Variation AA Info Type
rs1000014248 -- 111,201,067(-) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000052281 -- 111,205,291(-) T/C upstream_transcript_variant
rs1000107183 -- 111,192,518(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000172709 -- 111,205,065(-) T/C upstream_transcript_variant
rs1000310503 -- 111,192,859(-) A/G genic_downstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for 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 (Amsterdam, Netherlands) 2013) 3 4 58
  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 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DENND2D Gene

Sources for DENND2D Gene

Content
Loading form....