ZFIN Gene: fgfr3

ZFIN ID: ZDB-GENE-000816-1

ZFIN ID: ZDB-GENE-000816-1

Gene Name:

fibroblast growth factor receptor 3

Gene Symbol:

fgfr3 Nomenclature History

Previous Names:

Z-FGFR3, fc27h01, sb:eu563, wu:fc27h01 (1)

Gene 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; acanthosis nigricans; and bone development disease (multiple). Orthologous to human FGFR3 (fibroblast growth factor receptor 3).

Genome Resources:

Alliance (1), Gene:58129 (1), Ensembl(GRCz11):ENSDARG00000004782 (1)

GENE EXPRESSION
All Expression Data:	48 figures from 29 publications
Directly Submitted Expression Data:	6 figures (17 images) from Thisse et al., 2005 [eu563]
Wild-type Stages, Structures:	Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
	basal plate midbrain region basihyal cartilage hypertrophic chondrocyte basihyal cartilage brain caudal vein plexus ceratohyal cartilage hypertrophic chondrocyte ceratohyal cartilage cerebellum ciliary marginal zone diencephalon dorsal region diencephalon dorsal aorta dorsal telencephalon esophagus mesenchymal cell ethmoid cartilage fin bud floor plate forebrain ventricular zone frontal bone osteoblast frontal bone head hindbrain hindbrain neural rod hypothalamus infraorbital integument lens lens epithelium mandibular arch skeleton maxillary barbel Meckel's cartilage midbrain midbrain hindbrain boundary neural plate neural rod neural tube osteoblast osteoclast otic placode palatoquadrate cartilage pectoral fin perichondrium periocular mesenchyme pharyngeal arch presumptive diencephalon presumptive retinal pigmented epithelium pterosphenoid chondrocyte pterosphenoid retina retinal ganglion cell layer retinal inner nuclear layer retinal pigmented epithelium rhombomere anatomical compartment boundary rhombomere 1 somite spinal cord splanchnocranium tegmentum telencephalon unspecified vagal ganglion ventral telencephalon ventricular zone whole organism
High Throughput Expression:	GEO (1) , Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
la010237Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
la018391Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sa273	Point Mutation	Unknown	Premature Stop	ENU
sa1675	Point Mutation	Unknown	Splice Site	ENU	Zebrafish International Resource Center (ZIRC) (order this)
sa9259	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa10458	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa13480	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa15832	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa28078	Point Mutation	Unknown	Splice Site	ENU
sa35442	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
CRISPR1-fgfr3		1
MO1-fgfr3	N/A	1
MO2-fgfr3	N/A	1

PHENOTYPE

Data:	Fig. S4 from Pouget et al., 2014
Observed in:	hematopoietic stem cell differentiation ventral wall of dorsal aorta

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, type II	187601
urinary bladder cancer	Alliance	Bladder cancer, somatic	109800

DISEASE ASSOCIATED WITH fgfr3 VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	regulation of hematopoietic stem cell differentiation (more)
Cellular Component	integral component of membrane (more)
Molecular Function	ATP binding (more)

GO Terms (all 24)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	fgfr3-202 (1)	2999	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
	fgfr3-203 (1)	3233	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

SignaFish

ANTIBODIES No data available

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM fgfr3 No data available

MARKER RELATIONSHIPS

fgfr3 Contained in:	[BAC] CH73-92M9 (1), CH211-195N12 (1), DKEY-181A13 (1) (order this)
fgfr3 Encodes:	[EST] eu563 (1), fc27h01 [cDNA] MGC:193660 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_131606 (1)	3002 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR556722 (1)	205873 nt	Blast at MegaBLAST
Polypeptide	UniProtKB:F1QPA0 (1)	819 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 58)

ORTHOLOGY for fgfr3 ( Chr: 13 )

CITATIONS (95)

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