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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 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 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.

Additional gene information for DENND2A 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 DENND2A Gene

Genomics for DENND2A Gene

GeneHancer (GH) Regulatory Elements for DENND2A Gene

Promoters and enhancers for DENND2A 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
GH07J140672 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 650.7 -0.6 -618 4.8 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 IRF4 YY1 ZNF766 CBX5 ADCK2 DENND2A BRAF SLC37A3 KDM7A NDUFB2
GH07J140637 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.3 +34.2 34154 5.6 HDGF SIN3A GLI4 ZNF2 YY1 GLIS2 ZNF416 KLF7 ATF7 KLF13 LOC105375535 DENND2A CCT4P1 RNU4-74P SLC37A3 NDUFB2 NDUFB2-AS1 BRAF PARP12 ADCK2
GH07J140621 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +48.6 48594 8.2 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 FOS RXRA YY2 DENND2A ADCK2 NDUFB2 TMEM178B GC07P140619 LOC105375535
GH07J140517 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.1 +155.2 155177 2.6 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 ZNF280A ARID2 SLC37A3 BRAF NDUFB2-AS1 NDUFB2 DENND2A MRPS33 MKRN1 ENSG00000201354
GH07J140540 Enhancer 1.1 Ensembl ENCODE 10.5 +132.1 132130 3.4 SIN3A FEZF1 ZNF48 ZNF121 FOS DEK SP3 RXRA SP5 REST DENND2A MKRN1 ENSG00000201354
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DENND2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DENND2A gene promoter:

Genomic Locations for DENND2A Gene

Genomic Locations for DENND2A Gene
chr7:140,518,418-140,673,993
(GRCh38/hg38)
Size:
155,576 bases
Orientation:
Minus strand
chr7:140,218,220-140,373,793
(GRCh37/hg19)

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

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

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.

Phenotypes From GWAS Catalog for DENND2A Gene

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

Animal Model Products

miRNA for DENND2A Gene

miRTarBase miRNAs that target DENND2A

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DENND2A Gene

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:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP 20937701
GO:0065009 regulation of molecular function IEA --
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:

Clone 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, 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

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 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DENND2A 34 33
  • 87.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DENND2A 34 33
  • 87.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd2a 16 34 33
  • 83.35 (n)
rat
(Rattus norvegicus)
Mammalia Dennd2a 33
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia DENND2A 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DENND2A 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves DENND2A 34 33
  • 73.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DENND2A 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd2a 33
  • 67.74 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-82f1.1 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DENND2A: view image

Paralogs for DENND2A Gene

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

  • DEN2A_HUMAN
  • A2RUF6_HUMAN
  • C9IY76_HUMAN
  • C9IYZ8_HUMAN
  • C9JAA0_HUMAN
  • C9JD15_HUMAN
  • F8WAT8_HUMAN
  • H7C5K8_HUMAN
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 Variation AA Info Type
rs1000029420 -- 140,594,555(-) C/T intron_variant
rs1000033141 -- 140,631,045(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000039766 -- 140,522,815(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000056817 -- 140,530,642(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000097702 -- 140,593,222(-) C/T 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)

Additional Variant Information 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

Additional Disease Information for DENND2A

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

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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (PMID: 20395239) Macgregor S … Mackey DA (Human molecular genetics 2010) 3 44 58
  3. 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
  4. 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
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58

Products for DENND2A Gene

Sources for DENND2A Gene

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