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 receptor activity. Acts upstream of or within regulation of hematopoietic stem cell differentiation. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; fin bud; gut; head; and neural rod. Used to study camptodactyly-tall stature-scoliosis-hearing loss syndrome. Human ortholog(s) of this gene implicated in several diseases, including Human papillomavirus infectious disease; SADDAN; acanthosis nigricans; bone disease (multiple); and carcinoma (multiple). Orthologous to human FGFR3 (fibroblast growth factor receptor 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

63 figures from 38 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu563 (17 images)

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

Human Disease	Fish	Conditions	Citations
camptodactyly-tall stature-scoliosis-hearing loss syndrome	fgfr3^{zf3389/zf3389} (AB)	standard conditions	Sun et al., 2020
camptodactyly-tall stature-scoliosis-hearing loss syndrome	fgfr3^{zf3388/zf3388} (AB)	standard conditions	Sun et al., 2020

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	Additional Resources	Length
UniProtKB:A0A8M9QFK2	InterPro	815
UniProtKB:A0A8M9QJU4	InterPro	731
UniProtKB:A0A8M9QJU0	InterPro	820
UniProtKB:A0A8M6Z1R4	InterPro	820
UniProtKB:A0A8M3B533	InterPro	816
UniProtKB:A0A8M9Q9W6	InterPro	821
UniProtKB:A0A8M9QNI1	InterPro	820
UniProtKB:Q9I8X3	InterPro	800
UniProtKB:A0A8M9Q9X2	InterPro	816
UniProtKB:F1QPA0	InterPro	819
UniProtKB:A0A8M9PY42	InterPro	817
UniProtKB:A0A8M9QFJ7	InterPro	821
UniProtKB:A0A8M3B7V7	InterPro	820
UniProtKB:A0A8M9QNI4	InterPro	732
UniProtKB:A0AB32T3C8	InterPro	819
UniProtKB:A0AB32T3H4	InterPro	819

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	fgfr3-201 (1) Ensembl	Ensembl	8,112 nt	Select Tool ZFIN BLAST
mRNA	fgfr3-202 (1) Ensembl	Ensembl	2,999 nt	Select Tool ZFIN BLAST
mRNA	fgfr3-203 (1) Ensembl	Ensembl	3,233 nt	Select Tool ZFIN BLAST

Interactions and Pathways

SignaFish

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations