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 have fibroblast growth factor binding activity and fibroblast growth factor-activated receptor activity. Involved in regulation of hematopoietic stem cell differentiation. Predicted to localize to integral component of plasma membrane and receptor complex. Is expressed in several structures, including cranium; integument; 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
59 figures from 36 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 3 publications
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
lacrimoauriculodentodigital syndrome 2 Alliance LADD syndrome 2 620192
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
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 domain subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR013151 Immunoglobulin-like beta-sandwich domain
Domain IPR020635 Tyrosine-protein kinase, catalytic domain
Family IPR016248 Fibroblast growth factor receptor family
Family IPR050122 Receptor Tyrosine Kinase
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 Immunoglobulin domain subtype Immunoglobulin I-set Immunoglobulin-like beta-sandwich domain Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype 2 Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Receptor Tyrosine Kinase Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:A0A8M9QFK2 815
UniProtKB:A0A8M9QJU4 731
UniProtKB:A0A8M9QJU0 820
UniProtKB:A0A8M6Z1R4 820
UniProtKB:A0A8M3B533 816
UniProtKB:A0A8M9Q9W6 821
UniProtKB:A0A8M9QNI1 820
UniProtKB:Q9I8X3 800
UniProtKB:A0A8M9Q9X2 816
UniProtKB:F1QPA0 819
UniProtKB:A0A8M9PY42 817
UniProtKB:A0A8M9QFJ7 821
UniProtKB:A0A8M3B7V7 820
UniProtKB:A0A8M9QNI4 732
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA fgfr3-201 (1) Ensembl 8,112 nt
mRNA fgfr3-202 (1) Ensembl 2,999 nt
mRNA fgfr3-203 (1) Ensembl 3,233 nt
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations