Human Gene DPH2 (uc001ckz.3)
  Description: Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.
RefSeq Summary (NM_001384): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:44,435,653-44,439,043 Size: 3,391 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr1:44,435,848-44,438,211 Size: 2,364 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:44,435,653-44,439,043)mRNA (may differ from genome)Protein (489 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPH2_HUMAN
DESCRIPTION: RecName: Full=Diphthamide biosynthesis protein 2; AltName: Full=DPH2 homolog; Short=HsDph2; AltName: Full=Diphthamide biosynthesis protein 2 homolog-like 2; Short=DPH2-like 2;
FUNCTION: Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (By similarity).
SUBUNIT: Interacts with DPH1 (By similarity).
TISSUE SPECIFICITY: Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, speen, thymus, prostate, ovary and lymphocytes.
SIMILARITY: Belongs to the DPH1/DPH2 family. DPH2 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DPH2
CDC HuGE Published Literature: DPH2

-  MalaCards Disease Associations
  MalaCards Gene Search: DPH2
Diseases sorted by gene-association score: diphtheria (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.75 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 407.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.30195-0.350 Picture PostScript Text
3' UTR -308.26832-0.371 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010014 - DHP2_eu
IPR002728 - DPH1/DPH2

Pfam Domains:
PF01866 - Putative diphthamide synthesis protein

ModBase Predicted Comparative 3D Structure on Q9BQC3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
 RGDEnsembl WormBaseSGD
 Protein SequenceProtein Sequence Protein SequenceProtein Sequence
 AlignmentAlignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0090560 2-(3-amino-3-carboxypropyl)histidine synthase activity

Biological Process:
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK315506 - Homo sapiens cDNA, FLJ96571, Homo sapiens diptheria toxin resistance protein required fordiphthamide biosynthesis-like 2 (S. cerevisiae) (DPH2L2), mRNA.
BC003181 - Homo sapiens DPH2 homolog (S. cerevisiae), mRNA (cDNA clone MGC:4428 IMAGE:2958202), complete cds.
JD303583 - Sequence 284607 from Patent EP1572962.
AK297933 - Homo sapiens cDNA FLJ55730 complete cds, highly similar to Homo sapiens DPH2 homolog (DPH2), transcript variant 1, mRNA.
AK091303 - Homo sapiens cDNA FLJ33984 fis, clone DFNES2005540, highly similar to Homo sapiens DPH2 homolog (DPH2), transcript variant 1, mRNA.
AX746904 - Sequence 429 from Patent EP1308459.
BC001389 - Homo sapiens DPH2 homolog (S. cerevisiae), mRNA (cDNA clone MGC:1559 IMAGE:3051455), complete cds.
BC016956 - Homo sapiens DPH2 homolog (S. cerevisiae), mRNA (cDNA clone MGC:21520 IMAGE:3900854), complete cds.
AF053003 - Homo sapiens diphthamide biosynthesis protein-2 (DPH2) mRNA, complete cds.
JD390821 - Sequence 371845 from Patent EP1572962.
JD226489 - Sequence 207513 from Patent EP1572962.
JD364253 - Sequence 345277 from Patent EP1572962.
KJ896721 - Synthetic construct Homo sapiens clone ccsbBroadEn_06115 DPH2 gene, encodes complete protein.
BT007431 - Homo sapiens diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae) mRNA, complete cds.
DQ594577 - Homo sapiens piRNA piR-60689, complete sequence.
JD437345 - Sequence 418369 from Patent EP1572962.
JD400375 - Sequence 381399 from Patent EP1572962.
JD193017 - Sequence 174041 from Patent EP1572962.
JD474155 - Sequence 455179 from Patent EP1572962.
JD326552 - Sequence 307576 from Patent EP1572962.
JD555063 - Sequence 536087 from Patent EP1572962.
JD162025 - Sequence 143049 from Patent EP1572962.
JD134270 - Sequence 115294 from Patent EP1572962.
JD457094 - Sequence 438118 from Patent EP1572962.
JD173260 - Sequence 154284 from Patent EP1572962.
JD209015 - Sequence 190039 from Patent EP1572962.
JD385399 - Sequence 366423 from Patent EP1572962.
JD109514 - Sequence 90538 from Patent EP1572962.
JD227411 - Sequence 208435 from Patent EP1572962.
JD491519 - Sequence 472543 from Patent EP1572962.
JD281094 - Sequence 262118 from Patent EP1572962.
JD333781 - Sequence 314805 from Patent EP1572962.
JD516827 - Sequence 497851 from Patent EP1572962.
JD218763 - Sequence 199787 from Patent EP1572962.
JD040836 - Sequence 21860 from Patent EP1572962.
JD228073 - Sequence 209097 from Patent EP1572962.
JD523865 - Sequence 504889 from Patent EP1572962.
JD233557 - Sequence 214581 from Patent EP1572962.
JD549658 - Sequence 530682 from Patent EP1572962.
JD189238 - Sequence 170262 from Patent EP1572962.
JD088378 - Sequence 69402 from Patent EP1572962.
JD553716 - Sequence 534740 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BQC3 (Reactome details) participates in the following event(s):

R-HSA-5358494 DPH2 transfers a 3-amino-3-carboxypropyl group from AdoMet to residue 715 of nascent EEF2
R-HSA-5358493 Synthesis of diphthamide-EEF2
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDE3, DPH2L2, DPH2_HUMAN, NM_001384, NP_001375, O60623, Q9BQC3
UCSC ID: uc001ckz.3
RefSeq Accession: NM_001384
Protein: Q9BQC3 (aka DPH2_HUMAN)
CCDS: CCDS504.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001384.4
exon count: 6CDS single in 3' UTR: no RNA size: 2513
ORF size: 1470CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2369.00frame shift in genome: no % Coverage: 99.36
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.