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... See more...

Aliases for DPH2 Gene

Aliases for DPH2 Gene

  • Diphthamide Biosynthesis 2 2 3 5
  • S-Adenosyl-L-Methionine:L-Histidine 3-Amino-3-Carboxypropyltransferase 2 3 4
  • 2-(3-Amino-3-Carboxypropyl)Histidine Synthase Subunit 2 3 4
  • Diphtheria Toxin Resistance Protein 2 3 4
  • DPH2 Homolog 2 3
  • 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 Protein 2 Homolog-Like 2 3
  • Diphthamide Biosynthesis-Like Protein 2 3
  • Diphthamide Biosynthesis Protein 2 4
  • 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 (Diphthamide Biosynthesis 2) is a Protein Coding gene. Diseases associated with DPH2 include Diphtheria and Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include 2-(3-amino-3-carboxypropyl)histidine synthase activity. An important paralog of this gene is DPH1.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for DPH2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPH2 Gene

Genomics for DPH2 Gene

GeneHancer (GH) Regulatory Elements for DPH2 Gene

Promoters and enhancers for DPH2 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 DPH2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPH2

Top Transcription factor binding sites by QIAGEN in the DPH2 gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FAC1
  • GATA-2
  • Nkx2-5

Genomic Locations for DPH2 Gene

Genomic Locations for DPH2 Gene
chr1:43,969,981-43,973,371
(GRCh38/hg38)
Size:
3,391 bases
Orientation:
Plus strand
chr1:44,435,653-44,439,043
(GRCh37/hg19)
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 Lys256
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DPH2 Gene

Domains & Families for DPH2 Gene

Gene Families for DPH2 Gene

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

Protein Domains for DPH2 Gene

Blocks:
  • Diphthamide synthesis DPH2 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPH2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33984 fis, clone DFNES2005540, highly similar to Homo sapiens DPH2 homolog (DPH2), transcript variant 1, mRNA (B3KRB8_HUMAN)
  • cDNA FLJ55730, highly similar to Homo sapiens DPH2 homolog (DPH2), transcript variant 1, mRNA (B4DNI8_HUMAN)
  • Diphthamide biosynthesis protein 2 homolog-like 2 (DPH2_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-histidyl-[translation elongation factor 2] + S-adenosyl-L-methionine = 2-[(3S)-amino-3-carboxypropyl]-L-histidyl-[translation elongation factor 2] + H(+) + S-methyl-5'-thioadenosine; Xref=Rhea:RHEA:36783, Rhea:RHEA-COMP:9748, Rhea:RHEA-COMP:9749, ChEBI:CHEBI:15378, ChEBI:CHEBI:17509, ChEBI:CHEBI:29979, ChEBI:CHEBI:59789, ChEBI:CHEBI:73995; EC=2.5.1.108; Evidence=. ;.

Enzyme Numbers (IUBMB) for DPH2 Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
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 Dph2<tm2(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPH2

Clone 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 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 TAS,IEA --
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

mRNA/cDNA for DPH2 Gene

10 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
17 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 DPH2

Clone 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

Expression for DPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DPH2 Gene



Protein tissue co-expression partners for DPH2 Gene

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

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 31 30
  • 88.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DPH2 31 30
  • 87.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dph2 30
  • 81.97 (n)
mouse
(Mus musculus)
Mammalia Dph2 17 31 30
  • 81.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPH2 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPH2 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPH2 31 30
  • 58.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPH2 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dph2 30
  • 54.31 (n)
zebrafish
(Danio rerio)
Actinopterygii dph2 31 30
  • 49.65 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7265 31 30
  • 47.63 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000934 30
  • 45.92 (n)
worm
(Caenorhabditis elegans)
Secernentea dph-2 31
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER097C 30
  • 43.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02948g 30
  • 41.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPH2 33 31 30
  • 41.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G59630 30
  • 41.91 (n)
rice
(Oryza sativa)
Liliopsida Os11g0265600 30
  • 45.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06168 30
  • 44.77 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dph2 30
  • 43.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DPH2: view image

Paralogs for DPH2 Gene

Paralogs for DPH2 Gene

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

Variants for DPH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPH2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
694731 Uncertain Significance: Macrocephalus; Intellectual disability; Global developmental delay 43,970,708(+) G/T MISSENSE_VARIANT,NONSENSE,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for DPH2 Gene

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)

Additional Variant Information for DPH2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

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

Disorder Aliases PubMed IDs
diphtheria
  • corynebacterium infection
short-rib thoracic dysplasia 1 with or without polydactyly
  • srtd1
spindle cell hemangioma
  • sch
- elite association - COSMIC cancer census association via MalaCards
Search DPH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DPH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DC … Godwin AK (Genomics 1998) 2 3 4 23 54
  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 SH (Molecular and cellular biology 2004) 2 3 23 54
  3. 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 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for DPH2 Gene

Sources for DPH2 Gene