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Aliases for DDI2 Gene

Aliases for DDI2 Gene

  • DNA Damage Inducible 1 Homolog 2 2 3 5
  • Protein DDI1 Homolog 2 3 4
  • DDI1, DNA-Damage Inducible 1, Homolog 2 (S. Cerevisiae) 2
  • DNA-Damage Inducible 1 Homolog 2 (S. Cerevisiae) 2
  • DDI1, DNA-Damage Inducible 1, Homolog 2 3
  • DNA-Damage Inducible Protein 2 (DDI2) 3
  • DNA-Damage Inducible 1 Homolog 2 2
  • EC 3.4.23.- 4

External Ids for DDI2 Gene

Previous GeneCards Identifiers for DDI2 Gene

  • GC01P015211
  • GC01P015306
  • GC01P015689
  • GC01P015816
  • GC01P015943
  • GC01P014463

Summaries for DDI2 Gene

GeneCards Summary for DDI2 Gene

DDI2 (DNA Damage Inducible 1 Homolog 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is DDI1.

UniProtKB/Swiss-Prot for DDI2 Gene

  • Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (PubMed:27676298, PubMed:27528193). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1 (PubMed:27528193). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI1, for cellular survival following replication stress. Together or redudantly with DDI1, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity (PubMed:29290612).

Additional gene information for DDI2 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 DDI2 Gene

Genomics for DDI2 Gene

GeneHancer (GH) Regulatory Elements for DDI2 Gene

Promoters and enhancers for DDI2 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 DDI2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDI2 gene promoter:
  • AML1a
  • Bach1
  • E2F
  • E2F-1
  • E2F-2
  • E4BP4
  • En-1
  • FOXD1
  • S8
  • SEF-1 (1)

Genomic Locations for DDI2 Gene

Genomic Locations for DDI2 Gene
chr1:15,617,458-15,669,044
(GRCh38/hg38)
Size:
51,587 bases
Orientation:
Plus strand
chr1:15,943,953-15,995,539
(GRCh37/hg19)
Size:
51,587 bases
Orientation:
Plus strand

Genomic View for DDI2 Gene

Genes around DDI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDI2 Gene

Proteins for DDI2 Gene

  • Protein details for DDI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TDH0-DDI2_HUMAN
    Recommended name:
    Protein DDI1 homolog 2
    Protein Accession:
    Q5TDH0
    Secondary Accessions:
    • A8KAE1
    • Q7RTZ0
    • Q9BRT1

    Protein attributes for DDI2 Gene

    Size:
    399 amino acids
    Molecular mass:
    44523 Da
    Quaternary structure:
    • Homodimer (PubMed:27461074). Interacts with MCM6; PCNA; PSMD4; PSMD8; RPA2 and RPN2 (PubMed:29290612). Interacts with RTF2 (PubMed:29290612).

    Three dimensional structures from OCA and Proteopedia for DDI2 Gene

    Alternative splice isoforms for DDI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDI2 Gene

Post-translational modifications for DDI2 Gene

  • Ubiquitination at posLast=6767, isoforms=2, 3153, isoforms=2, 377, posLast=283283, posLast=389389, posLast=338338, posLast=289289, and posLast=170170
  • Modification sites at PhosphoSitePlus

Other Protein References for DDI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDI2 Gene

Domains & Families for DDI2 Gene

Gene Families for DDI2 Gene

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

Suggested Antigen Peptide Sequences for DDI2 Gene

GenScript: Design optimal peptide antigens:
  • Protein DDI1 homolog 2 (DDI2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TDH0

UniProtKB/Swiss-Prot:

DDI2_HUMAN :
  • Belongs to the DDI1 family.
Family:
  • Belongs to the DDI1 family.
genes like me logo Genes that share domains with DDI2: view

Function for DDI2 Gene

Molecular function for DDI2 Gene

UniProtKB/Swiss-Prot Function:
Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (PubMed:27676298, PubMed:27528193). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1 (PubMed:27528193). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI1, for cellular survival following replication stress. Together or redudantly with DDI1, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity (PubMed:29290612).

Enzyme Numbers (IUBMB) for DDI2 Gene

Phenotypes From GWAS Catalog for DDI2 Gene

Gene Ontology (GO) - Molecular Function for DDI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IDA 27528193
GO:0005515 protein binding IPI 27528193
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IDA 27461074
genes like me logo Genes that share ontologies with DDI2: view
genes like me logo Genes that share phenotypes with DDI2: view

Animal Model Products

CRISPR Products

miRNA for DDI2 Gene

miRTarBase miRNAs that target DDI2

Clone Products

  • Applied Biological Materials (abm): Clones for DDI2 - Now 50% OFF >
  • * DDI2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DDI2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DDI2 Gene

Localization for DDI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDI2 Gene

Cytoplasm, cytosol. Chromosome.

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 DDI2 gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 2
endoplasmic reticulum 1
extracellular 0
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for DDI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA --
genes like me logo Genes that share ontologies with DDI2: view

Pathways & Interactions for DDI2 Gene

PathCards logo

SuperPathways for DDI2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0010498 proteasomal protein catabolic process IMP 29290612
GO:0016485 protein processing IMP 27676298
GO:0031647 regulation of protein stability IMP 29290612
GO:0072711 cellular response to hydroxyurea IMP 29290612
genes like me logo Genes that share ontologies with DDI2: view

No data available for Pathways by source and SIGNOR curated interactions for DDI2 Gene

Drugs & Compounds for DDI2 Gene

No Compound Related Data Available

Transcripts for DDI2 Gene

mRNA/cDNA for DDI2 Gene

Unigene Clusters for DDI2 Gene

DNA-damage inducible 1 homolog 2 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for DDI2 - Now 50% OFF >
  • * DDI2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DDI2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for DDI2 Gene

No ASD Table

Relevant External Links for DDI2 Gene

GeneLoc Exon Structure for
DDI2
ECgene alternative splicing isoforms for
DDI2

Expression for DDI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDI2 Gene

mRNA differential expression in normal tissues according to GTEx for DDI2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for DDI2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1) and Lymph node (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDI2 Gene



Protein tissue co-expression partners for DDI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDI2 Gene:

DDI2

SOURCE GeneReport for Unigene cluster for DDI2 Gene:

Hs.718857

Evidence on tissue expression from TISSUES for DDI2 Gene

  • Liver(4.4)
genes like me logo Genes that share expression patterns with DDI2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDI2 Gene

Orthologs for DDI2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDI2 35 34
  • 99.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDI2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDI2 35 34
  • 94.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DDI2 35 34
  • 93.01 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDI2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddi2 17 35 34
  • 89.22 (n)
rat
(Rattus norvegicus)
Mammalia Ddi2 34
  • 88.33 (n)
chicken
(Gallus gallus)
Aves DDI2 35 34
  • 80.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDI2 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddi2 34
  • 75.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53726 34
zebrafish
(Danio rerio)
Actinopterygii ddi2 35 34 34
  • 72.15 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rngo 35 34
  • 55.37 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C01G5.6 35
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DDI1 35
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G13235 34
  • 50.11 (n)
rice
(Oryza sativa)
Liliopsida Os02g0198600 34
  • 50.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9741 35
  • 42 (a)
OneToMany
Cin.9928 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9928 34
Species where no ortholog for DDI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDI2 Gene

ENSEMBL:
Gene Tree for DDI2 (if available)
TreeFam:
Gene Tree for DDI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDI2: view image

Paralogs for DDI2 Gene

Paralogs for DDI2 Gene

(1) SIMAP similar genes for DDI2 Gene using alignment to 3 proteins:

  • DDI2_HUMAN
  • H0YI90_HUMAN
  • H0YII4_HUMAN
genes like me logo Genes that share paralogs with DDI2: view

Variants for DDI2 Gene

Sequence variations from dbSNP and Humsavar for DDI2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000104427 -- 15,634,862(+) A/G intron_variant
rs1000114925 -- 15,653,253(+) G/A intron_variant
rs1000119115 -- 15,617,041(+) C/G upstream_transcript_variant
rs1000181848 -- 15,633,065(+) A/G intron_variant
rs1000212771 -- 15,630,478(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DDI2 Gene

Variant ID Type Subtype PubMed ID
esv3302757 CNV tandem duplication 20981092
nsv1006877 CNV gain 25217958

Variation tolerance for DDI2 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDI2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDI2 Gene

Disorders for DDI2 Gene

Additional Disease Information for DDI2

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

No disorders were found for DDI2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DDI2 Gene

Publications for DDI2 Gene

  1. Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity. (PMID: 29290612) Kottemann MC … Smogorzewska A (Molecular cell 2018) 3 4 58
  2. Human DNA-Damage-Inducible 2 Protein Is Structurally and Functionally Distinct from Its Yeast Ortholog. (PMID: 27461074) Sivá M … Šašková KG (Scientific reports 2016) 3 4 58
  3. The aspartyl protease DDI2 activates Nrf1 to compensate for proteasome dysfunction. (PMID: 27528193) Koizumi S … Murata S (eLife 2016) 3 4 58
  4. Reply to Vangala et al.: Complete inhibition of the proteasome reduces new proteasome production by causing Nrf1 aggregation. (PMID: 27676298) Sha Z … Goldberg AL (Current biology : CB 2016) 3 4 58
  5. 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 45 58

Products for DDI2 Gene

Sources for DDI2 Gene

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