diphthamide biosynthesis 2

Summary
Gene Symbol
  • DPH2
Organism
Homo sapiens (human)
NCBI Gene
1802
PubChem
1802
Alliance of Genome Resources
JoGo
DPH2
TogoVar
DPH2
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Dwarfism
  • Ectodermal dysplasia
  • Hypotrichosis
  • Intellectual disability
  • Iron-sulfur
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
B3KRB8
Q9BQC3
  • Diphthamide biosynthesis protein 2
  • Diphtheria toxin resistance protein 2
  • S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
cytosol
OrthoDB (Group)
Group level
Eukaryota
Group Name
2-(3-AMINO-3-CARBOXYPROPYL)HISTIDINE SYNTHASE SUBUNIT 2
Functional Category
  • C: Energy production and conversion
  • J: Translation, ribosomal structure and biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0070478 diphthamide deficiency syndrome 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026