MEFV innate immunity regulator, pyrin

Summary
Gene Symbol
  • MEFV
Organism
Homo sapiens (human)
NCBI Gene
4210
PubChem
4210
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Actin-binding
  • Alternative splicing
  • Amyloidosis
  • Cell projection
  • Coiled coil
  • Cytoplasmic vesicle
  • Cytoskeleton
  • Disease variant
  • Inflammatory response
  • Innate immunity
  • Microtubule
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Zinc-finger
Proteins
Displaying all 2 entries
UniProt Protein Name
D2DTW2
O15553
  • Marenostrin
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
pyrin
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
protein ubiquitination
zinc ion binding
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050908 myelodysplastic syndrome
DOID:0080746 Sweet syndrome
DOID:11123 Henoch-Schoenlein purpura
DOID:2841 asthma
DOID:2987 familial mediterranean fever
DOID:850 lung disease
DOID:9119 acute myeloid leukemia
DOID:9538 multiple myeloma
DOID:9952 acute lymphoblastic leukemia

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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