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Aliases for DENND2A Gene

Aliases for DENND2A Gene

  • DENN Domain Containing 2A 2 3 5
  • KIAA1277 2 3 4
  • DENN/MADD Domain Containing 2A 2 3
  • DENN Domain-Containing Protein 2A 3
  • FAM31D 3

External Ids for DENND2A Gene

Previous HGNC Symbols for DENND2A Gene

  • KIAA1277

Previous GeneCards Identifiers for DENND2A Gene

  • GC07M139670
  • GC07M139864
  • GC07M140218
  • GC07M134513

Summaries for DENND2A Gene

GeneCards Summary for DENND2A Gene

DENND2A (DENN Domain Containing 2A) 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 DENND2A 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. May play a role in late endosomes back to trans-Golgi network/TGN transport.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND2A Gene

Genomics for DENND2A Gene

Regulatory Elements for DENND2A Gene

Enhancers for DENND2A 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
GH07G140621 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +48.6 48594 8.2 HDGF PKNOX1 CREB3L1 MLX ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 DENND2A ADCK2 NDUFB2 TMEM178B GC07P140619 LOC105375535
GH07G140517 1.5 Ensembl ENCODE dbSUPER 10.1 +155.2 155178 2.6 HDGF PKNOX1 FOXA2 ATF1 CREB3L1 ARNT SIN3A ARID4B ZNF2 ZNF48 NDUFB2 NDUFB2-AS1 DENND2A MRPS33 MKRN1 ENSG00000201354
GH07G140540 1.3 Ensembl ENCODE 10.5 +132.1 132130 3.4 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK ZNF263 SP3 SP5 DENND2A MKRN1 ENSG00000201354
GH07G140564 1.5 FANTOM5 Ensembl ENCODE 7 +107.7 107718 4.1 HDGF ATF1 FOXA2 ARNT YY1 TCF12 GATA2 FOS NCOA1 REST DENND2A MRPS33 ENSG00000201354 MKRN1
GH07G140525 1.1 ENCODE dbSUPER 8.9 +148.0 148018 0.1 TBP ELF3 FOXA2 ARID4B DMAP1 ZSCAN9 ZNF48 SLC30A9 MIXL1 MXD4 DENND2A MKRN1 ENSG00000201354
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DENND2A on UCSC Golden Path with GeneCards custom track

Promoters for DENND2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219128 893 1401 ARNT CREB3L1 SIN3A DMAP1 ZNF766 ZNF263 SP3 ZNF592 ZNF610 SMARCA4

Genomic Location for DENND2A Gene

Chromosome:
7
Start:
140,518,418 bp from pter
End:
140,673,993 bp from pter
Size:
155,576 bases
Orientation:
Minus strand

Genomic View for DENND2A Gene

Genes around DENND2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND2A Gene

Proteins for DENND2A Gene

  • Protein details for DENND2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULE3-DEN2A_HUMAN
    Recommended name:
    DENN domain-containing protein 2A
    Protein Accession:
    Q9ULE3
    Secondary Accessions:
    • C9JUI3
    • Q1RMD5
    • Q86XY0

    Protein attributes for DENND2A Gene

    Size:
    1009 amino acids
    Molecular mass:
    113853 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86591.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DENND2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND2A Gene

Post-translational modifications for DENND2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DENND2A Gene

Domains & Families for DENND2A Gene

Gene Families for DENND2A Gene

Protein Domains for DENND2A Gene

Suggested Antigen Peptide Sequences for DENND2A Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DENND2A: view

No data available for UniProtKB/Swiss-Prot for DENND2A Gene

Function for DENND2A Gene

Molecular function for DENND2A 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. May play a role in late endosomes back to trans-Golgi network/TGN transport.

Gene Ontology (GO) - Molecular Function for DENND2A 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 DENND2A: view

Phenotypes for DENND2A Gene

genes like me logo Genes that share phenotypes with DENND2A: view

Animal Model Products

CRISPR Products

miRNA for DENND2A Gene

miRTarBase miRNAs that target DENND2A

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DENND2A Gene

Localization for DENND2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND2A Gene

Cytoplasm, cytoskeleton. Note=Associated with actin filaments.

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 DENND2A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DENND2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton IDA 20937701
genes like me logo Genes that share ontologies with DENND2A: view

Pathways & Interactions for DENND2A Gene

genes like me logo Genes that share pathways with DENND2A: view

Pathways by source for DENND2A Gene

Interacting Proteins for DENND2A Gene

Gene Ontology (GO) - Biological Process for DENND2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP 20937701
GO:0043547 positive regulation of GTPase activity IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with DENND2A: view

No data available for SIGNOR curated interactions for DENND2A Gene

Drugs & Compounds for DENND2A Gene

No Compound Related Data Available

Transcripts for DENND2A Gene

Unigene Clusters for DENND2A Gene

DENN/MADD domain containing 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND2A Gene

No ASD Table

Relevant External Links for DENND2A Gene

GeneLoc Exon Structure for
DENND2A
ECgene alternative splicing isoforms for
DENND2A

Expression for DENND2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DENND2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DENND2A Gene

This gene is overexpressed in Adipocyte (52.5) and Fetal ovary (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DENND2A Gene



Protein tissue co-expression partners for DENND2A Gene

NURSA nuclear receptor signaling pathways regulating expression of DENND2A Gene:

DENND2A

SOURCE GeneReport for Unigene cluster for DENND2A Gene:

Hs.6385

Evidence on tissue expression from TISSUES for DENND2A Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with DENND2A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND2A Gene

Orthologs for DENND2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for DENND2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND2A 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia DENND2A 34 35
  • 87.87 (n)
cow
(Bos Taurus)
Mammalia DENND2A 34 35
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Dennd2a 34 16 35
  • 83.35 (n)
rat
(Rattus norvegicus)
Mammalia Dennd2a 34
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND2A 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND2A 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND2A 34 35
  • 73.99 (n)
lizard
(Anolis carolinensis)
Reptilia DENND2A 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd2a 34
  • 67.74 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-82f1.1 34
  • 65.13 (n)
Species where no ortholog for DENND2A 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 DENND2A Gene

ENSEMBL:
Gene Tree for DENND2A (if available)
TreeFam:
Gene Tree for DENND2A (if available)

Paralogs for DENND2A Gene

(4) SIMAP similar genes for DENND2A Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with DENND2A: view

Variants for DENND2A Gene

Sequence variations from dbSNP and Humsavar for DENND2A Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000029420 -- 140,594,555(+) CACAG(C/T)ACTGA intron-variant
rs1000033141 -- 140,631,045(+) ACAAG(C/T)GGCGC intron-variant
rs1000039766 -- 140,522,815(+) ATTGG(C/T)CAGGC intron-variant
rs1000056817 -- 140,530,642(+) AAAAA(A/G)AAGAG intron-variant
rs1000059996 -- 140,548,085(+) GTATA(-/TATTTTT)TATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DENND2A Gene

Variant ID Type Subtype PubMed ID
dgv6642n100 CNV gain 25217958
esv2659341 CNV deletion 23128226
esv2673558 CNV deletion 23128226
esv2675359 CNV deletion 23128226
esv2735244 CNV deletion 23290073
esv2761112 CNV gain+loss 21179565
esv3615236 CNV loss 21293372
esv3615237 CNV loss 21293372
esv3615238 CNV loss 21293372
esv3615239 CNV gain 21293372
esv3615240 CNV loss 21293372
esv3615241 CNV gain 21293372
nsv1018535 CNV loss 25217958
nsv1021133 CNV gain 25217958
nsv1029128 CNV gain 25217958
nsv1033685 CNV gain 25217958
nsv366001 CNV deletion 16902084
nsv464735 CNV gain 19166990
nsv608501 CNV gain 21841781
nsv831157 CNV gain 17160897

Variation tolerance for DENND2A Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.00; 93.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DENND2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND2A Gene

Disorders for DENND2A Gene

Relevant External Links for DENND2A

Genetic Association Database (GAD)
DENND2A
Human Genome Epidemiology (HuGE) Navigator
DENND2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DENND2A

No disorders were found for DENND2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DENND2A Gene

Publications for DENND2A Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (PMID: 20395239) Macgregor S. … Mackey D.A. (Hum. Mol. Genet. 2010) 3 46 64
  3. 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
  4. 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
  5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64

Products for DENND2A Gene

Sources for DENND2A Gene

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