DPH2 Gene Summary [Human]

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]

Details

Type
Processed Transcript
Official Symbol
DPH2
Official Name
diphthamide biosynthesis 2 [Source:HGNC Symbol;Acc:HGNC:3004]
Ensembl ID
ENSG00000132768
Bio databases IDs NCBI: 1802 Ensembl: ENSG00000132768
Aliases diphthamide biosynthesis 2, 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2
Synonyms 9130020C19Rik, DEDSSH2, diphthamide biosynthesis 2, DPH2 homolog, DPH2L2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DPH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • binding protein
  • Putative diphthamide synthesis protein
  • enzyme
  • protein binding
  • diphthamide biosynthesis protein 2
  • diphthamide biosynthesis enzyme Dph1/Dph2 domain
  • Non-methyl alkyl or aryl group transferase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • developmental delay with short stature, dysmorphic facial features, and sparse hair 2
regulated by
regulates
role in cell
  • apoptosis
  • cell viability
  • diphthamidation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DPH2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • peptidyl-diphthamide biosynthetic process from peptidyl-histidine

Cellular Component

Where in the cell the gene product is active
  • cytosol
  • macromolecular complex

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • 4 iron, 4 sulfur cluster binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.