Aliases for DEPTOR Gene

Aliases for DEPTOR Gene

  • DEP Domain Containing MTOR Interacting Protein 2 3 5
  • DEP Domain-Containing MTOR-Interacting Protein 3 4
  • DEP Domain-Containing Protein 6 3 4
  • DEP Domain Containing 6 2 3
  • DEPDC6 3 4
  • DEP.6 2 3
  • FLJ12428 2
  • DEPTOR 5

External Ids for DEPTOR Gene

Previous HGNC Symbols for DEPTOR Gene

  • DEPDC6

Previous GeneCards Identifiers for DEPTOR Gene

  • GC08P120886

Summaries for DEPTOR Gene

GeneCards Summary for DEPTOR Gene

DEPTOR (DEP Domain Containing MTOR Interacting Protein) is a Protein Coding gene. Diseases associated with DEPTOR include Tuberous Sclerosis 1 and Subependymal Glioma. Among its related pathways are Development HGF signaling pathway and MAPK Signaling: Mitogen Stimulation Pathway. An important paralog of this gene is PREX1.

UniProtKB/Swiss-Prot Summary for DEPTOR Gene

  • Negative regulator of the mTORC1 and mTORC2 signaling pathways. Inhibits the kinase activity of both complexes.

Gene Wiki entry for DEPTOR Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEPTOR Gene

Genomics for DEPTOR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEPTOR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEPTOR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEPTOR

Genomic Locations for DEPTOR Gene

Latest Assembly
chr8:119,873,717-120,050,918
(GRCh38/hg38)
Size:
177,202 bases
Orientation:
Plus strand

Previous Assembly
chr8:120,885,962-121,063,157
(GRCh37/hg19 by Entrez Gene)
Size:
177,196 bases
Orientation:
Plus strand

chr8:120,885,957-121,063,152
(GRCh37/hg19 by Ensembl)
Size:
177,196 bases
Orientation:
Plus strand

Genomic View for DEPTOR Gene

Genes around DEPTOR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DEPTOR Gene

Proteins for DEPTOR Gene

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

    Protein Symbol:
    Q8TB45-DPTOR_HUMAN
    Recommended name:
    DEP domain-containing mTOR-interacting protein
    Protein Accession:
    Q8TB45
    Secondary Accessions:
    • B2RCL9
    • B4DN97
    • E7EV87
    • Q96EQ1
    • Q9H0R7
    • Q9H894
    • Q9HA07

    Protein attributes for DEPTOR Gene

    Size:
    409 amino acids
    Molecular mass:
    46294 Da
    Quaternary structure:
    • Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR. Part of the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PROTOR1, RICTOR, MAPKAP1 and DEPTOR. Interacts (via PDZ domain) with MTOR; interacts with MTOR within both mammalian target of rapamycin complexes mTORC1 and mTORC2 (PubMed:19446321). Interacts (via PDZ domain) with MINAR1 (via N-terminus) (PubMed:30080879). Interacts with SIK3 (PubMed:30232230).
    SequenceCaution:
    • Sequence=BAB14723.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DEPTOR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEPTOR Gene

Post-translational modifications for DEPTOR Gene

  • Phosphorylated. Phosphorylation weakens interaction with MTOR within mTORC1 and mTORC2.
  • Ubiquitinated; ubiquitination leads to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEPTOR Gene

No data available for DME Specific Peptides for DEPTOR Gene

Domains & Families for DEPTOR Gene

Gene Families for DEPTOR Gene

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

Protein Domains for DEPTOR Gene

Suggested Antigen Peptide Sequences for DEPTOR Gene

GenScript: Design optimal peptide antigens:
  • DEP domain-containing protein 6 (DPTOR_HUMAN)
genes like me logo Genes that share domains with DEPTOR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DEPTOR Gene

Function for DEPTOR Gene

Molecular function for DEPTOR Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of the mTORC1 and mTORC2 signaling pathways. Inhibits the kinase activity of both complexes.
UniProtKB/Swiss-Prot Induction:
Expression is negatively regulated by both mTORC1 and mTORC2 (at protein level).

Phenotypes From GWAS Catalog for DEPTOR Gene

Gene Ontology (GO) - Molecular Function for DEPTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19446321
genes like me logo Genes that share ontologies with DEPTOR: view
genes like me logo Genes that share phenotypes with DEPTOR: view

Animal Models for DEPTOR Gene

MGI Knock Outs for DEPTOR:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEPTOR

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

Localization for DEPTOR Gene

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 DEPTOR gene
Compartment Confidence
mitochondrion 3
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (3)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DEPTOR Gene

Pathways & Interactions for DEPTOR Gene

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

Pathways by source for DEPTOR Gene

1 Cell Signaling Technology pathway for DEPTOR Gene
1 GeneTex pathway for DEPTOR Gene

SIGNOR curated interactions for DEPTOR Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DEPTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IMP 19446321
GO:0032007 negative regulation of TOR signaling IMP 19446321
GO:0035556 intracellular signal transduction IEA --
GO:0045792 negative regulation of cell size IMP 19446321
GO:2001236 regulation of extrinsic apoptotic signaling pathway IMP 19446321
genes like me logo Genes that share ontologies with DEPTOR: view

Drugs & Compounds for DEPTOR Gene

(3) Drugs for DEPTOR Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
OSI-027 Investigational Pharma inhibitor MTORC1/ mTORC2 inhibitor, Kinase Inhibitors 0
AZD8055 Pharma inhibitor MTOR inhibitor, Kinase Inhibitors 0
MLN0128 Pharma inhibitor Kinase Inhibitors 0
genes like me logo Genes that share compounds with DEPTOR: view

Transcripts for DEPTOR Gene

mRNA/cDNA for DEPTOR Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEPTOR

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

No ASD Table

Relevant External Links for DEPTOR Gene

GeneLoc Exon Structure for
DEPTOR

Expression for DEPTOR Gene

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

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

This gene is overexpressed in Muscle - Skeletal (x9.7).

Protein differential expression in normal tissues from HIPED for DEPTOR Gene

This gene is overexpressed in Skin (21.5), Bone marrow stromal cell (13.7), and Salivary gland (9.6).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEPTOR

SOURCE GeneReport for Unigene cluster for DEPTOR Gene:

Hs.112981

Evidence on tissue expression from TISSUES for DEPTOR Gene

  • Nervous system(4.6)
  • Thyroid gland(4.5)
  • Liver(4.5)
  • Intestine(4.4)
  • Heart(4.4)
  • Muscle(3.3)
  • Kidney(2.7)
  • Stomach(2.3)
  • Adrenal gland(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with DEPTOR: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEPTOR Gene

Orthologs for DEPTOR Gene

This gene was present in the common ancestor of chordates.

Orthologs for DEPTOR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEPTOR 29 30
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DEPTOR 29 30
  • 92.79 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DEPTOR 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Deptor 29
  • 90.42 (n)
Oppossum
(Monodelphis domestica)
Mammalia DEPTOR 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Deptor 29 16 30
  • 89.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DEPTOR 29 30
  • 87.03 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DEPDC6 29 30
  • 80.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DEPTOR 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100493830 29
  • 74.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5956 29
Zebrafish
(Danio rerio)
Actinopterygii deptor 29 30
  • 74.51 (n)
OneToOne
Dr.26865 29
Species where no ortholog for DEPTOR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (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 DEPTOR Gene

ENSEMBL:
Gene Tree for DEPTOR (if available)
TreeFam:
Gene Tree for DEPTOR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEPTOR: view image
Alliance of Genome Resources:
Additional Orthologs for DEPTOR

Paralogs for DEPTOR Gene

Paralogs for DEPTOR Gene

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

  • DPTOR_HUMAN
  • E7EV87_HUMAN
genes like me logo Genes that share paralogs with DEPTOR: view

Variants for DEPTOR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEPTOR Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs2271900 -- p.Asn204Ser
rs34057546 -- p.Asn148Ser
rs4871827 -- p.Ser389Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEPTOR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3894n106 CNV deletion 24896259
esv2678781 CNV deletion 23128226
esv3418648 CNV insertion 20981092
esv3544111 CNV deletion 23714750
esv3572963 CNV loss 25503493
esv3891474 CNV gain 25118596
nsv1018953 CNV loss 25217958
nsv1077064 CNV deletion 25765185
nsv1125953 CNV tandem duplication 24896259
nsv1128450 CNV deletion 24896259
nsv1144233 CNV deletion 24896259
nsv524750 CNV loss 19592680
nsv528628 CNV loss 19592680
nsv528705 CNV loss 19592680
nsv612111 CNV gain 21841781

Variation tolerance for DEPTOR Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.83; 89.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEPTOR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEPTOR
Leiden Open Variation Database (LOVD)
DEPTOR

SNP Genotyping and Copy Number Assays for research

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

Disorders for DEPTOR Gene

MalaCards: The human disease database

(4) MalaCards diseases for DEPTOR Gene - From: COP

Disorder Aliases PubMed IDs
tuberous sclerosis 1
  • tsc1
subependymal glioma
  • mixed subependymoma-ependymoma
tuberous sclerosis 2
  • tsc2
bjornstad syndrome
  • bjs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEPTOR

genes like me logo Genes that share disorders with DEPTOR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEPTOR Gene

Publications for DEPTOR Gene

  1. DEPTOR is an mTOR inhibitor frequently overexpressed in multiple myeloma cells and required for their survival. (PMID: 19446321) Peterson TR … Sabatini DM (Cell 2009) 2 3 4
  2. UBTOR/KIAA1024 regulates neurite outgrowth and neoplasia through mTOR signaling. (PMID: 30080879) Zhang H … Peng G (PLoS genetics 2018) 3 4
  3. The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. (PMID: 30232230) Csukasi F … Krakow D (Science translational medicine 2018) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4

Products for DEPTOR Gene

Sources for DEPTOR Gene