fibulin 5

Summary
Gene Symbol
  • FBLN5
Organism
Homo sapiens (human)
NCBI Gene
10516
PubChem
10516
Alliance of Genome Resources
Annotation
Keyword
  • Age-related macular degeneration
  • Calcium
  • Cell adhesion
  • Charcot-Marie-Tooth disease
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Extracellular matrix
  • Glycoprotein
  • Neurodegeneration
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying all 6 entries
UniProt Protein Name
A0A024R6G3
G3V4U0
A0A9L9PXD9
G3XA98
Q9UBX5
  • Developmental arteries and neural crest EGF-like protein
  • Urine p50 protein
G3V2P8
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
EGF-containing fibulin-like extracellular matrix protein 2
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0070135 autosomal recessive cutis laxa type IA
DOID:0070136 autosomal dominant cutis laxa 2
DOID:10595 Charcot-Marie-Tooth disease
DOID:10871 age related macular degeneration
DOID:3144 cutis laxa

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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 8, 2025