fibroblast growth factor receptor 3

Summary
Gene Symbol
  • FGFR3
Organism
Homo sapiens (human)
NCBI Gene
2261
PubChem
2261
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Apoptosis
  • Cell membrane
  • Chromosomal rearrangement
  • Craniosynostosis
  • Cytoplasmic vesicle
  • Deafness
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Endoplasmic reticulum
  • Glycoprotein
  • Immunoglobulin domain
  • Lacrimo-auriculo-dento-digital syndrome
  • Magnesium
  • Metal-binding
  • Phosphoprotein
  • Receptor
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
  • Transmembrane helix
  • Tyrosine-protein kinase
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
P22607
Q0IJ44
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Uncharacterized protein
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 30 in total
DO ID Disease Name Source
DOID:0050736 autosomal dominant disease
DOID:0050866 oral squamous cell carcinoma
DOID:0050920 tonsil squamous cell carcinoma
DOID:0060249 scoliosis
DOID:0060703 Muenke Syndrome
DOID:0080001 bone disease
DOID:0080041 hypochondroplasia
DOID:0081371 lacrimoauriculodentodigital syndrome 2
DOID:0111158 SADDAN
DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss 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