diaphanous related formin 3

Summary
Gene Symbol
  • DIAPH3
Organism
Homo sapiens (human)
NCBI Gene
81624
PubChem
81624
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Coiled coil
  • Cytoplasm
  • Neuropathy
  • Non-syndromic deafness
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
B4DPV3
Q9NSV4
  • Diaphanous-related formin-3
  • MDia2
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Formin
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060690 autosomal dominant auditory neuropathy 1

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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 7, 2025