This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by... See more...

Aliases for DDIT3 Gene

Aliases for DDIT3 Gene

  • DNA Damage Inducible Transcript 3 2 3 5
  • C/EBP Zeta 2 3 4
  • GADD153 2 3 4
  • CHOP10 2 3 4
  • CHOP 2 3 4
  • Growth Arrest And DNA Damage-Inducible Protein GADD153 3 4
  • CCAAT/Enhancer-Binding Protein Homologous Protein 3 4
  • DNA Damage-Inducible Transcript 3 Protein 3 4
  • C/EBP-Homologous Protein 10 3 4
  • Alternative DDIT3 Protein 3 4
  • AltDDIT3 3 4
  • CHOP-10 3 4
  • DDIT3 Upstream Open Reading Frame Protein 4
  • DNA-Damage-Inducible Transcript 3 2
  • C/EBP-Homologous Protein 4
  • C/EBPzeta 3
  • DDIT-3 4
  • CEBPZ 3
  • DDIT3 5

External Ids for DDIT3 Gene

Previous GeneCards Identifiers for DDIT3 Gene

  • GC12M059181
  • GC12M058053
  • GC12M057627
  • GC12M056196
  • GC12M057910
  • GC12M054948

Summaries for DDIT3 Gene

Entrez Gene Summary for DDIT3 Gene

  • This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]

CIViC Summary for DDIT3 Gene

GeneCards Summary for DDIT3 Gene

DDIT3 (DNA Damage Inducible Transcript 3) is a Protein Coding gene. Diseases associated with DDIT3 include Myxoid Liposarcoma and Liposarcoma. Among its related pathways are Transcriptional misregulation in cancer and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for DDIT3 Gene

  • Multifunctional transcription factor in endoplasmic reticulum (ER) stress response (PubMed:15322075, PubMed:15775988, PubMed:19672300). Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress (PubMed:15322075, PubMed:15775988). Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes (By similarity). Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes (By similarity). Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L (PubMed:15775988, PubMed:17709599, PubMed:22761832, PubMed:20876114). Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:18940792, PubMed:19672300, PubMed:20829347). Together with ATF4, mediates ER-mediated cell death by promoting expression of genes involved in cellular amino acid metabolic processes, mRNA translation and the unfolded protein response (UPR) in response to ER stress (By similarity). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity (PubMed:16434966). Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response (By similarity). Acts as a major regulator of postnatal neovascularization through regulation of endothelial nitric oxide synthase (NOS3)-related signaling (By similarity).
  • [Isoform AltDDIT3]: Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP.

Gene Wiki entry for DDIT3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDIT3 Gene

Genomics for DDIT3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDIT3 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 DDIT3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDIT3

Top Transcription factor binding sites by QIAGEN in the DDIT3 gene promoter:
  • c-Myc
  • C/EBPalpha
  • Max1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DDIT3 Gene

Genomic Locations for DDIT3 Gene
chr12:57,516,588-57,521,737
(GRCh38/hg38)
Size:
5,150 bases
Orientation:
Minus strand
chr12:57,910,371-57,914,300
(GRCh37/hg19)
Size:
3,930 bases
Orientation:
Minus strand

Genomic View for DDIT3 Gene

Genes around DDIT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDIT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDIT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDIT3 Gene

Proteins for DDIT3 Gene

  • Protein details for DDIT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPQ6-DT3UO_HUMAN
    Recommended name:
    DDIT3 upstream open reading frame protein
    Protein Accession:
    P0DPQ6

    Protein attributes for DDIT3 Gene

    Size:
    34 amino acids
    Molecular mass:
    4284 Da
    Quaternary structure:
    • [Isoform AltDDIT3]: Interacts with DDIT3 (isoform 1).

    Alternative splice isoforms for DDIT3 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for DDIT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35638-DDIT3_HUMAN
    Recommended name:
    DNA damage-inducible transcript 3 protein
    Protein Accession:
    P35638
    Secondary Accessions:
    • F8VS99

    Protein attributes for DDIT3 Gene

    Size:
    169 amino acids
    Molecular mass:
    19175 Da
    Quaternary structure:
    • Heterodimer (PubMed:29083303). Interacts with TCF7L2/TCF4, EP300/P300, HDAC1, HDAC5 and HDAC6 (PubMed:17872950, PubMed:16434966). Interacts with TRIB3 which blocks its association with EP300/P300 (PubMed:15775988, PubMed:17872950). Interacts with FOXO3, CEBPB and ATF4 (PubMed:18940792, PubMed:20829347, PubMed:22761832).
    • [Isoform 1]: Interacts with isoform AltDDIT3 of DDIT3.
    SequenceCaution:
    • Sequence=AAB27103.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for DDIT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDIT3 Gene

Post-translational modifications for DDIT3 Gene

  • Ubiquitinated, leading to its degradation by the proteasome.
  • Phosphorylation at serine residues by MAPK14 enhances its transcriptional activation activity while phosphorylation at serine residues by CK2 inhibits its transcriptional activation activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for DDIT3

No data available for DME Specific Peptides for DDIT3 Gene

Domains & Families for DDIT3 Gene

Gene Families for DDIT3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for DDIT3 Gene

Suggested Antigen Peptide Sequences for DDIT3 Gene

GenScript: Design optimal peptide antigens:
  • Growth arrest and DNA damage-inducible protein GADD153 (DDIT3_HUMAN)
  • cDNA, FLJ94723, Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), mRNA (Q53YD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35638

UniProtKB/Swiss-Prot:

DDIT3_HUMAN :
  • The N-terminal region is necessary for its proteasomal degradation, transcriptional activity and interaction with EP300/P300.
  • Belongs to the bZIP family.
Domain:
  • The N-terminal region is necessary for its proteasomal degradation, transcriptional activity and interaction with EP300/P300.
Family:
  • Belongs to the bZIP family.
genes like me logo Genes that share domains with DDIT3: view

Function for DDIT3 Gene

Molecular function for DDIT3 Gene

UniProtKB/Swiss-Prot Function:
Multifunctional transcription factor in endoplasmic reticulum (ER) stress response (PubMed:15322075, PubMed:15775988, PubMed:19672300). Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress (PubMed:15322075, PubMed:15775988). Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes (By similarity). Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes (By similarity). Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L (PubMed:15775988, PubMed:17709599, PubMed:22761832, PubMed:20876114). Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:18940792, PubMed:19672300, PubMed:20829347). Together with ATF4, mediates ER-mediated cell death by promoting expression of genes involved in cellular amino acid metabolic processes, mRNA translation and the unfolded protein response (UPR) in response to ER stress (By similarity). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity (PubMed:16434966). Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response (By similarity). Acts as a major regulator of postnatal neovascularization through regulation of endothelial nitric oxide synthase (NOS3)-related signaling (By similarity).
UniProtKB/Swiss-Prot Induction:
By oxidative stress, amino-acid deprivation, hypoxia and ER stress. During ER stress, induced by a EIF2AK3/ATF4 pathway and/or ERN1/ATF6 pathway. Expression is suppressed by TLR-TRIF signaling pathway during prolonged ER stress.
UniProtKB/Swiss-Prot Function:
[Isoform AltDDIT3]: Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP.
GENATLAS Biochemistry:
DDIT3 dominant negative regulator of several C/EBP transcription factors,involved in t(12;16) translocation (see FUS),involved in erythroid growth and differentiation possibly through interaction with both C/EBP and non C/EBP family members

Phenotypes From GWAS Catalog for DDIT3 Gene

Gene Ontology (GO) - Molecular Function for DDIT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA,ISS --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 22065586
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 22065586
GO:0003677 DNA binding IEA,IDA 14667815
genes like me logo Genes that share ontologies with DDIT3: view
genes like me logo Genes that share phenotypes with DDIT3: view

Human Phenotype Ontology for DDIT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDIT3 Gene

MGI Knock Outs for DDIT3:

Animal Model Products

CRISPR Products

Transcription Factor Targets for DDIT3 Gene

Selected GeneGlobe predicted Target genes for DDIT3
Targeted motifs for DDIT3 Gene
HOMER Transcription Factor Regulatory Elements motif DDIT3
  • Consensus sequence: ATTGCATCAT Submotif: canonical Cell Type: MEF GEO ID: GSE35681

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDIT3

Clone Products

  • Addgene plasmids for DDIT3

No data available for Enzyme Numbers (IUBMB) for DDIT3 Gene

Localization for DDIT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDIT3 Gene

Nucleus. Cytoplasm.
Cytoplasm. Nucleus. Note=Present in the cytoplasm under non-stressed conditions and ER stress leads to its nuclear accumulation. {ECO:0000269 PubMed:29083303}.

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 DDIT3 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
mitochondrion 3
endosome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DDIT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,IDA 11478948
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex NAS 15775988
genes like me logo Genes that share ontologies with DDIT3: view

Pathways & Interactions for DDIT3 Gene

genes like me logo Genes that share pathways with DDIT3: view

Pathways by source for DDIT3 Gene

1 GeneGo (Thomson Reuters) pathway for DDIT3 Gene
  • Development Growth hormone signaling via PI3K/AKT and MAPK cascades
2 Qiagen pathways for DDIT3 Gene
  • MAPK Signaling
  • p38 Signaling
1 Cell Signaling Technology pathway for DDIT3 Gene
1 GeneTex pathway for DDIT3 Gene

SIGNOR curated interactions for DDIT3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DDIT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IGI 11478948
GO:0001955 blood vessel maturation IEA --
GO:0006355 regulation of transcription, DNA-templated TAS,IMP 17872950
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with DDIT3: view

Drugs & Compounds for DDIT3 Gene

(37) Drugs for DDIT3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(27) Additional Compounds for DDIT3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DDIT3: view

Transcripts for DDIT3 Gene

mRNA/cDNA for DDIT3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDIT3

Clone Products

  • Addgene plasmids for DDIT3

Alternative Splicing Database (ASD) splice patterns (SP) for DDIT3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d · 4e
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - -
SP5: - - - - - -
SP6: - - -
SP7: -
SP8: - - - -

Relevant External Links for DDIT3 Gene

GeneLoc Exon Structure for
DDIT3

Expression for DDIT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDIT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDIT3 Gene

This gene is overexpressed in Amniocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DDIT3 Gene



Protein tissue co-expression partners for DDIT3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDIT3

SOURCE GeneReport for Unigene cluster for DDIT3 Gene:

Hs.505777

Evidence on tissue expression from TISSUES for DDIT3 Gene

  • Muscle(4.7)
  • Nervous system(3.7)
  • Eye(3.4)
  • Liver(3.3)
  • Heart(3.2)
  • Kidney(3.1)
  • Bone marrow(3.1)
  • Intestine(3.1)
  • Thyroid gland(3)
  • Pancreas(3)
  • Blood(3)
  • Stomach(3)
  • Lung(2.9)
  • Skin(2.8)
  • Adrenal gland(2.8)
  • Spleen(2.7)
  • Lymph node(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDIT3 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
General:
  • skin
genes like me logo Genes that share expression patterns with DDIT3: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DDIT3 Gene

Orthologs for DDIT3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DDIT3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDIT3 30 31
  • 99.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DDIT3 30 31
  • 92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDIT3 30 31
  • 91.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddit3 30
  • 89.29 (n)
Mouse
(Mus musculus)
Mammalia Ddit3 30 17 31
  • 87.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDIT3 31
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddit3 30
  • 56.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii ddit3 31
  • 32 (a)
OneToOne
Species where no ortholog for DDIT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 DDIT3 Gene

ENSEMBL:
Gene Tree for DDIT3 (if available)
TreeFam:
Gene Tree for DDIT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDIT3: view image

Paralogs for DDIT3 Gene

No data available for Paralogs for DDIT3 Gene

Variants for DDIT3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDIT3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
703854 Likely Benign: not provided 57,516,883(-) C/T MISSENSE_VARIANT
773025 Benign: not provided 57,517,463(-) G/C MISSENSE_VARIANT,INTRON_VARIANT
782562 Benign: not provided 57,517,429(-) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
VAR_036000 A colorectal cancer sample p.Ala115Val

Additional dbSNP identifiers (rs#s) for DDIT3 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDIT3 Gene

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv2759901 CNV gain 17122850
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv559036 CNV loss 21841781

Variation tolerance for DDIT3 Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDIT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDIT3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDIT3 Gene

Disorders for DDIT3 Gene

MalaCards: The human disease database

(31) MalaCards diseases for DDIT3 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myxoid liposarcoma
  • liposarcoma
liposarcoma
dedifferentiated liposarcoma
  • ddls
liposarcoma of the ovary
  • liposarcoma of ovary
myxoid liposarcoma of the ovary
  • myxoid liposarcoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search DDIT3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDIT3_HUMAN
  • Myxoid liposarcoma (MXLIPO) [MIM:613488]: A soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion. {ECO:0000269 PubMed:7503811}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving DDIT3 has been found in a patient with malignant myxoid liposarcoma. Translocation t(12;16)(q13;p11) with FUS (PubMed:7503811). {ECO:0000269 PubMed:7503811}.

Genatlas disease for DDIT3 Gene

myxoid liposarcoma,with breakpoint in t(12;16) translocation (see FUS)

Additional Disease Information for DDIT3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DDIT3: view

Publications for DDIT3 Gene

  1. Critical and functional regulation of CHOP (C/EBP homologous protein) through the N-terminal portion. (PMID: 17872950) Ohoka N … Hayashi H (The Journal of biological chemistry 2007) 3 4 23
  2. The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signals. (PMID: 16434966) Horndasch M … Gloy J (Oncogene 2006) 3 4 23
  3. TRB3, a novel ER stress-inducible gene, is induced via ATF4-CHOP pathway and is involved in cell death. (PMID: 15775988) Ohoka N … Hayashi H (The EMBO journal 2005) 3 4 23
  4. CHOP is involved in endoplasmic reticulum stress-induced apoptosis by enhancing DR5 expression in human carcinoma cells. (PMID: 15322075) Yamaguchi H … Wang HG (The Journal of biological chemistry 2004) 3 4 23
  5. Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. (PMID: 8510758) Crozat A … Ron D (Nature 1993) 3 4 23

Products for DDIT3 Gene

  • Addgene plasmids for DDIT3

Sources for DDIT3 Gene