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Aliases for DPH2 Gene

Aliases for DPH2 Gene

  • DPH2 Homolog 2 3 5
  • S-Adenosyl-L-Methionine:L-Histidine 3-Amino-3-Carboxypropyltransferase 2 3 4
  • Diphtheria Toxin Resistance Protein 2 3 4
  • Diphthamide Biosynthesis Protein 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
  • 2-(3-Amino-3-Carboxypropyl)Histidine Synthase Subunit 2 3
  • Diphthamide Biosynthesis Protein 2 Homolog-Like 2 3
  • Diphthamide Biosynthesis-Like Protein 2 3
  • DPH2 Homolog (S. Cerevisiae) 2
  • DPH2-Like 2 (S. Cerevisiae) 2
  • EC 2.5.1.108 4
  • DPH2-Like 2 3

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 Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G044720 1.7 Ensembl ENCODE dbSUPER 9.9 +752.8 752823 4.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 YBX1 YY1 ZNF143 SP3 NFYC GPBP1L1 TOE1 RPS8 RPL7AP16 RPS15AP10 DMAP1 TMEM69 RPS15AP11 SNORD38B UROD
GH01G043853 1.4 Ensembl ENCODE dbSUPER 10.6 -116.4 -116426 0.9 NFIB ZNF133 ZNF2 GATA2 ZNF366 ZSCAN5C ZNF391 EGR2 ZNF362 OVOL3 ARTN IPO13 DPH2 LOC101929609 KDM4A-AS1 ST3GAL3 SHMT1P1 GC01M043853
GH01G044739 1.4 ENCODE dbSUPER 9.9 +770.1 770102 2.1 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 GLIS1 TOE1 DMAP1 GPBP1L1 RPL7AP16 RPS15AP10 TMEM69 UROD DPH2 ZSWIM5 BEST4
GH01G043860 1.3 ENCODE dbSUPER 10.6 -108.4 -108434 1.8 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF121 GLIS2 FOS ZHX2 LOC101929609 SZT2 ARTN PTCH2 ST3GAL3 IPO13 LOC101929592 DPH2 KDM4A-AS1 ATP6V0B
GH01G044027 1.4 ENCODE dbSUPER 9.8 +60.5 60523 5.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ZNF207 IPO13 DPH2 ARTN CCDC24 B4GALT2 ENSG00000230615 SLC6A9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000005681 119 1001 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 ZNF766

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:
    2-(3-amino-3-carboxypropyl)histidine synthase subunit 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

Post-translational modifications for DPH2 Gene

  • Ubiquitination at isoforms=3256
  • 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 CatalyticActivity:
L-histidine-[translation elongation factor 2] + S-adenosyl-L-methionine = 2-((3S)-3-amino-3-carboxypropyl)-L-histidine-[translation elongation factor 2] + S-methyl-5-thioadenosine.
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).

Enzyme Numbers (IUBMB) for DPH2 Gene

Gene Ontology (GO) - Molecular Function for DPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DPH2 Gene

Localization for DPH2 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 DPH2 gene
Compartment Confidence
cytosol 5
peroxisome 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPH2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine IEA,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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DPH2 Gene



Protein tissue co-expression partners for DPH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPH2 Gene:

DPH2

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.

Evidence on tissue expression from TISSUES for DPH2 Gene

  • Intestine(4.3)
  • Kidney(4.2)
  • Pancreas(4.2)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with DPH2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 88.39 (n)
dog
(Canis familiaris)
Mammalia DPH2 34 35
  • 87.79 (n)
rat
(Rattus norvegicus)
Mammalia Dph2 34
  • 81.97 (n)
mouse
(Mus musculus)
Mammalia Dph2 34 16 35
  • 81.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPH2 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPH2 34 35
  • 58.46 (n)
lizard
(Anolis carolinensis)
Reptilia DPH2 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph2 34
  • 54.31 (n)
zebrafish
(Danio rerio)
Actinopterygii dph2 34 35
  • 49.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7265 34 35
  • 47.63 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000934 34
  • 45.92 (n)
worm
(Caenorhabditis elegans)
Secernentea dph-2 35
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER097C 34
  • 43.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02948g 34
  • 41.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH2 34 35 37
  • 41.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G59630 34
  • 41.91 (n)
rice
(Oryza sativa)
Liliopsida Os11g0265600 34
  • 45.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06168 34
  • 44.77 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dph2 34
  • 43.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for DPH2 was found in the sources mined by GeneCards:
  • 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
rs1000148039 -- 43,971,132(+) AGAAC(C/T)CAGAC intron-variant, reference, missense, utr-variant-5-prime
rs1000553596 -- 43,969,743(+) CGGTG(-/TTC)CTGAT upstream-variant-2KB
rs1000624774 -- 43,970,836(+) TTCTG(A/G)TGCTA intron-variant
rs1000769331 -- 43,970,671(+) CAGGG(C/T)CAAAG reference, synonymous-codon, missense, utr-variant-5-prime
rs1001653886 -- 43,971,604(+) GACCT(A/G)AGTCG intron-variant, reference, synonymous-codon

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)

Relevant External Links for DPH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 22 64
  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 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for DPH2 Gene

Sources for DPH2 Gene

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