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. Human ortholog(s) of this gene implicated in several diseases, including Crouzon syndrome-acanthosis nigricans syndrome; LADD syndrome; SADDAN; acanthosis nigricans; and bone development disease (multiple). Is expressed in several structures, including cranium; integument; nervous system; neural rod; and neural tube. Orthologous to human FGFR3 (fibroblast growth factor receptor 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

60 figures from 37 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 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