filamin A

Summary
Gene Symbol
  • FLNA
Organism
Homo sapiens (human)
NCBI Gene
2316
PubChem
2316
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Actin-binding
  • Alternative splicing
  • Cell projection
  • Cilium biogenesis/degradation
  • Cytoskeleton
  • Deafness
  • Direct protein sequencing
  • Disease variant
  • Isopeptide bond
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Ubl conjugation
Proteins
Displaying all 3 entries
UniProt Protein Name
Q60FE5
Q6NXF2
P21333
  • Actin-binding protein 280
  • Alpha-filamin
  • Endothelial actin-binding protein
  • Filamin-1
  • Non-muscle filamin
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 27 in total
GO Term Evidence Code PMID
membrane
focal adhesion
postsynapse
perikaryon
cortical cytoskeleton
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
filamin
Functional Category
  • E: Amino acid transport and metabolism
  • K: Transcription
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 18 in total
DO ID Disease Name Source
DOID:0050454 periventricular nodular heterotopia
DOID:0080096 myofibrillar myopathy 5
DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction
DOID:0111190 distal myopathy 4
DOID:0111765 X-linked cardiac valvular dysplasia
DOID:0111782 otopalatodigital syndrome spectrum disorder
DOID:0111783 otopalatodigital syndrome type 1
DOID:0111784 otopalatodigital syndrome type 2
DOID:0111786 frontometaphyseal dysplasia 1
DOID:0111788 Melnick-Needles syndrome

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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