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Aliases for DPH2 Gene

Aliases for DPH2 Gene

  • DPH2 Homolog 2 3 4 5
  • Diphthamide Biosynthesis Protein 2 Homolog-Like 2 3 4
  • DPH2-Like 2 3 4
  • DPH2L2 3 4
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis-Like 2 (S. Cerevisiae) 2
  • Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis-Like 2 3
  • Diphthamide Biosynthesis-Like Protein 2 3
  • DPH2 Homolog (S. Cerevisiae) 2
  • DPH2-Like 2 (S. Cerevisiae) 2
  • HsDph2 4

External Ids for DPH2 Gene

Previous HGNC Symbols for DPH2 Gene

  • DPH2L2

Previous GeneCards Identifiers for DPH2 Gene

  • GC01P044105
  • GC01P044208
  • GC01P044435
  • GC01P042552

Summaries for DPH2 Gene

Entrez Gene Summary for DPH2 Gene

  • This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for DPH2 Gene

DPH2 (DPH2 Homolog) is a Protein Coding gene. Diseases associated with DPH2 include Diphtheria. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Transport to the Golgi and subsequent modification. GO annotations related to this gene include 2-(3-amino-3-carboxypropyl)histidine synthase activity.

UniProtKB/Swiss-Prot for DPH2 Gene

  • Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPH2 Gene

Genomics for DPH2 Gene

Regulatory Elements for DPH2 Gene

Enhancers for DPH2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DPH2 on UCSC Golden Path with GeneCards custom track

Promoters for DPH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DPH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DPH2 Gene

Chromosome:
1
Start:
43,969,981 bp from pter
End:
43,973,371 bp from pter
Size:
3,391 bases
Orientation:
Plus strand

Genomic View for DPH2 Gene

Genes around DPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPH2 Gene

Proteins for DPH2 Gene

  • Protein details for DPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQC3-DPH2_HUMAN
    Recommended name:
    Diphthamide biosynthesis protein 2
    Protein Accession:
    Q9BQC3
    Secondary Accessions:
    • A8MVC9
    • B2RDE3
    • B4DNI8
    • O60623

    Protein attributes for DPH2 Gene

    Size:
    489 amino acids
    Molecular mass:
    52083 Da
    Quaternary structure:
    • Interacts with DPH1.

    Alternative splice isoforms for DPH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPH2 Gene

Proteomics data for DPH2 Gene at MOPED

Post-translational modifications for DPH2 Gene

  • Ubiquitination at Lys 256
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DPH2 Gene

Domains & Families for DPH2 Gene

Protein Domains for DPH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BQC3

UniProtKB/Swiss-Prot:

DPH2_HUMAN :
  • Belongs to the DPH1/DPH2 family. DPH2 subfamily.
Family:
  • Belongs to the DPH1/DPH2 family. DPH2 subfamily.
genes like me logo Genes that share domains with DPH2: view

No data available for Gene Families for DPH2 Gene

Function for DPH2 Gene

Molecular function for DPH2 Gene

UniProtKB/Swiss-Prot Function:
Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2).

Gene Ontology (GO) - Molecular Function for DPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090560 2-(3-amino-3-carboxypropyl)histidine synthase activity EXP 20559380
genes like me logo Genes that share ontologies with DPH2: view
genes like me logo Genes that share phenotypes with DPH2: view

Animal Models for DPH2 Gene

MGI Knock Outs for DPH2:
  • Dph2 tm2(EUCOMM)Wtsi

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DPH2 Gene

Localization for DPH2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPH2 Gene COMPARTMENTS Subcellular localization image for DPH2 gene
Compartment Confidence
cytosol 5
nucleus 2
peroxisome 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DPH2 Gene

Pathways & Interactions for DPH2 Gene

genes like me logo Genes that share pathways with DPH2: view

UniProtKB/Swiss-Prot Q9BQC3-DPH2_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis.

Gene Ontology (GO) - Biological Process for DPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with DPH2: view

No data available for SIGNOR curated interactions for DPH2 Gene

Drugs & Compounds for DPH2 Gene

(1) Drugs for DPH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DPH2: view

Transcripts for DPH2 Gene

Unigene Clusters for DPH2 Gene

DPH2 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DPH2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a ·
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - -
SP10: - - - -
SP11: - - - - - -
SP12: - - - - -
SP13: - - - - -
SP14:
SP15: - -
SP16: -
SP17: -

ExUns: 8b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for DPH2 Gene

GeneLoc Exon Structure for
DPH2
ECgene alternative splicing isoforms for
DPH2

Expression for DPH2 Gene

mRNA expression in normal human tissues for DPH2 Gene

Protein differential expression in normal tissues from HIPED for DPH2 Gene

This gene is overexpressed in Testis (15.9), Peripheral blood mononuclear cells (15.4), Blymphocyte (15.1), and Fetal Brain (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DPH2 Gene



SOURCE GeneReport for Unigene cluster for DPH2 Gene Hs.632398

mRNA Expression by UniProt/SwissProt for DPH2 Gene

Q9BQC3-DPH2_HUMAN
Tissue specificity: Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, spleen, thymus, prostate, ovary and lymphocytes.
genes like me logo Genes that share expression patterns with DPH2: view

Protein tissue co-expression partners for DPH2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DPH2 Gene

Orthologs for DPH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPH2 35
  • 88.39 (n)
  • 88.93 (a)
DPH2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPH2 35
  • 87.79 (n)
  • 88.89 (a)
DPH2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dph2 35
  • 81.76 (n)
  • 83.81 (a)
Dph2 16
Dph2 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dph2 35
  • 81.97 (n)
  • 85.04 (a)
oppossum
(Monodelphis domestica)
Mammalia DPH2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPH2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPH2 35
  • 58.46 (n)
  • 51.2 (a)
DPH2 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPH2 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph2 35
  • 54.31 (n)
  • 47.81 (a)
zebrafish
(Danio rerio)
Actinopterygii dph2 35
  • 49.65 (n)
  • 41.98 (a)
dph2 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000934 35
  • 45.92 (n)
  • 35.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7265 35
  • 47.63 (n)
  • 38.46 (a)
CG7265 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dph-2 36
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER097C 35
  • 43.99 (n)
  • 32.69 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02948g 35
  • 41.87 (n)
  • 28.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH2 35
  • 41.01 (n)
  • 28.19 (a)
DPH2 36
  • 22 (a)
OneToOne
DPH2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G59630 35
  • 41.91 (n)
  • 32.28 (a)
rice
(Oryza sativa)
Liliopsida Os11g0265600 35
  • 45.16 (n)
  • 34.32 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06168 35
  • 44.77 (n)
  • 32.84 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dph2 35
  • 43.93 (n)
  • 37.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for DPH2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 DPH2 Gene

ENSEMBL:
Gene Tree for DPH2 (if available)
TreeFam:
Gene Tree for DPH2 (if available)

Paralogs for DPH2 Gene

No data available for Paralogs for DPH2 Gene

Variants for DPH2 Gene

Sequence variations from dbSNP and Humsavar for DPH2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2486007 -- 43,968,941(+) AGGGT(A/G)GAGGT upstream-variant-2KB
rs6657792 -- 43,969,165(+) TCACT(C/G)CATGC upstream-variant-2KB
rs11297726 -- 43,969,650(+) TTGTC(-/A)AAAAA upstream-variant-2KB
rs11539397 -- 43,970,118(+) ACTCA(A/G)GCCCC utr-variant-5-prime
rs11539398 -- 43,970,211(+) GCGGC(C/G)CTGCA reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for DPH2 Gene

Variant ID Type Subtype PubMed ID
nsv870606 CNV Loss 21882294
dgv217n71 CNV Loss 21882294

Variation tolerance for DPH2 Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.71% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DPH2 Gene

Disorders for DPH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DPH2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diphtheria
  • corynebacterium infection
- elite association - COSMIC cancer census association via MalaCards
Search DPH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DPH2

Genetic Association Database (GAD)
DPH2
Human Genome Epidemiology (HuGE) Navigator
DPH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPH2
genes like me logo Genes that share disorders with DPH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPH2 Gene

Publications for DPH2 Gene

  1. Cloning and localization of a human diphthamide biosynthesis-like protein-2 gene, DPH2L2. (PMID: 9782084) Schultz D.C. … Godwin A.K. (Genomics 1998) 2 3 4 23 67
  2. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. (PMID: 15485916) Liu S. … Leppla S.H. (Mol. Cell. Biol. 2004) 2 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Loss of diphthamide pre-activates NF-I_B and death receptor pathways and renders MCF7 cells hypersensitive to tumor necrosis factor. (PMID: 26261303) Stahl S. … Brinkmann U. (Proc. Natl. Acad. Sci. U.S.A. 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for DPH2 Gene

Sources for DPH2 Gene

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