DPH2 Chromosome 1
Diphthamide biosynthesis 2
Upload your DNA to see your personal genotypes for variants in DPH2.
What This Gene Does
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]
Gene Info
Gene Group
Diphthamide biosynthesis genes
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000132768
Associated Conditions (7)
Short stature
Global developmental delay
Ventricular septal defect
Developmental delay with short stature
dysmorphic facial features
and sparse hair 2
diphthamide-deficiency syndrome
Key Variants
RS755058688
Conflicting classifications of pathogenicity
Short stature, Global developmental delay, Ventricular septal defect
Health Risk
RS767455462
Conflicting classifications of pathogenicity
Short stature, Global developmental delay, Ventricular septal defect
Health Risk
RS1557642000
Likely pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Health Risk
RS2529100401
Likely pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Health Risk
RS577890255
Likely pathogenic
diphthamide-deficiency syndrome, Developmental delay with short stature, dysmorphic facial features
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755058688 | Health Risk | Conflicting classifications of pathogenicity | Short stature, Global developmental delay, Ventricular septal defect |
| RS767455462 | Health Risk | Conflicting classifications of pathogenicity | Short stature, Global developmental delay, Ventricular septal defect |
| RS1557642000 | Health Risk | Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 |
| RS2529100401 | Health Risk | Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 |
| RS577890255 | Health Risk | Likely pathogenic | diphthamide-deficiency syndrome, Developmental delay with short stature, dysmorphic facial features |