DPH2 (diphthamide biosynthesis 2)

2014-11-01  

Identity

HGNC
LOCATION
1p34.1
LOCUSID
ALIAS
DPH2L2
FUSION GENES

Other Information

Locus ID:

NCBI: 1802
MIM: 603456
HGNC: 3004
Ensembl: ENSG00000132768

Variants:

dbSNP: 1802
ClinVar: 1802
TCGA: ENSG00000132768
COSMIC: DPH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132768ENST00000255108Q9BQC3
ENSG00000132768ENST00000396758Q9BQC3
ENSG00000132768ENST00000459879H0YCR5
ENSG00000132768ENST00000476260E9PPU3
ENSG00000132768ENST00000492306E9PLL2
ENSG00000132768ENST00000495421E9PIY4
ENSG00000132768ENST00000524776E9PMH7
ENSG00000132768ENST00000527319H0YED1
ENSG00000132768ENST00000532140E9PJH6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
Synthesis of diphthamide-EEF2REACTOMER-HSA-5358493

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
376754632023DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.4
376754632023DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.4
343023112021Spin-Regulated Electron Transfer and Exchange-Enhanced Reactivity in Fe(4) S(4) -Mediated Redox Reaction of the Dph2 Enzyme During the Biosynthesis of Diphthamide.1
343023112021Spin-Regulated Electron Transfer and Exchange-Enhanced Reactivity in Fe(4) S(4) -Mediated Redox Reaction of the Dph2 Enzyme During the Biosynthesis of Diphthamide.1
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

DPH2 (diphthamide biosynthesis 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62606/dph2-(diphthamide-biosynthesis-2)