Gene

fgfr3

ID
ZDB-GENE-000816-1
Name
fibroblast growth factor receptor 3
Symbol
fgfr3 Nomenclature History
Previous Names
  • Z-FGFR3
  • fc27h01
  • sb:eu563
  • wu:fc27h01 (1)
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to enable fibroblast growth factor binding activity and fibroblast growth factor-activated receptor activity. Acts upstream of or within regulation of hematopoietic stem cell differentiation. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be part of receptor complex. Predicted to be integral component of plasma membrane. Is expressed in several structures, including cranium; gut; nervous system; neural rod; and neural tube. Human ortholog(s) of this gene implicated in several diseases, including Crouzon syndrome-acanthosis nigricans syndrome; LADD syndrome; SADDAN; bone development disease (multiple); and carcinoma (multiple). Orthologous to human FGFR3 (fibroblast growth factor receptor 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
51 figures from 31 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Pouget et al., 2014
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fgfr3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
achondroplasia Alliance Achondroplasia 100800
camptodactyly-tall stature-scoliosis-hearing loss syndrome Alliance CATSHL syndrome 610474
cervical cancer Alliance Cervical cancer, somatic 603956
colorectal cancer Alliance Colorectal cancer, somatic 114500
Crouzon syndrome-acanthosis nigricans syndrome Alliance Crouzon syndrome with acanthosis nigricans 612247
epidermal nevus Alliance Nevus, epidermal, somatic 162900
hypochondroplasia Alliance Hypochondroplasia 146000
LADD syndrome Alliance LADD syndrome 149730
Muenke Syndrome Alliance Muenke syndrome 602849
SADDAN Alliance SADDAN 616482
testicular germ cell cancer Alliance Spermatocytic seminoma, somatic 273300
thanatophoric dysplasia Alliance Thanatophoric dysplasia, type I 187600
thanatophoric dysplasia Alliance Thanatophoric dysplasia, type II 187601
urinary bladder cancer Alliance Bladder cancer, somatic 109800
Associated With fgfr3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008266 Tyrosine-protein kinase, active site
Binding_site IPR017441 Protein kinase, ATP binding site
Domain IPR000719 Protein kinase domain
Domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain IPR003598 Immunoglobulin subtype 2
Domain IPR003599 Immunoglobulin subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR020635 Tyrosine-protein kinase, catalytic domain
Domain IPR041159 Fibroblast growth factor receptor, transmembrane domain
Family IPR016248 Fibroblast growth factor receptor family
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Domain Details Per Protein
Protein Length Fibroblast growth factor receptor family Fibroblast growth factor receptor, transmembrane domain Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2 Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:X1WBA9 382
UniProtKB:A4JYQ2 802
UniProtKB:Q9I8X3 800
UniProtKB:Q9DE16 209
UniProtKB:A0A2R8QM35 304
UniProtKB:F1QPA0 819
UniProtKB:B3DGT9 800
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations