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

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	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 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

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
mRNA	fgfr3-203 (1) Ensembl	Ensembl	3,233 nt	Select Tool

Interactions and Pathways

SignaFish

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations