coiled-coil domain containing 88C

Summary
Gene Symbol
  • CCDC88C
Organism
Homo sapiens (human)
NCBI Gene
440193
PubChem
440193
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell junction
  • Coiled coil
  • Cytoplasm
  • Disease variant
  • Guanine-nucleotide releasing factor
  • Phosphoprotein
  • Reference proteome
  • Spinocerebellar ataxia
  • Wnt signaling pathway
Proteins
Displaying all 2 entries
UniProt Protein Name
B4DZB8
Q9P219
  • Coiled-coil domain-containing protein 88C
  • Dvl-associating protein with a high frequency of leucine residues
  • Hook-related protein 2
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Girdin
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050986 spinocerebellar ataxia type 40
DOID:10908 hydrocephalus

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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: December 9, 2024