DPH6 (diphthamine biosynthesis 6)

2014-11-01  

Identity

HGNC
LOCATION
15q14
LOCUSID
ALIAS
ATPBD4
FUSION GENES

Other Information

Locus ID:

NCBI: 89978
MIM: 618391
HGNC: 30543
Ensembl: ENSG00000134146

Variants:

dbSNP: 89978
ClinVar: 89978
TCGA: ENSG00000134146
COSMIC: DPH6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134146ENST00000256538Q7L8W6
ENSG00000134146ENST00000440392Q7L8W6
ENSG00000134146ENST00000558266H0YNH5
ENSG00000134146ENST00000561411H0YND7

Expression (GTEx)

0
1
2
3
4

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
231696442012Chemogenomic approach identified yeast YLR143W as diphthamide synthetase.11

Citation

Dessen P

DPH6 (diphthamine biosynthesis 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62609/dph6