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FGFR3 Gene

protein-coding GIFtS: 74

GC04P001762

fibroblast growth factor receptor 3
(Previous names: achondroplasia, thanatophoric dwarfism )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ACH)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ACH ^², ⁵
CD333 ^¹, ²
CEK2 ^¹, ²
EC 2.7.10.1 ^³
FGFR-3 ^³
HSFGFR3EX ^²
JTK4 ^¹, ², ³
OTTHUMP00000149959 ^²

Descriptions
CD333 antigen ^³
achondroplasia, thanatophoric dwarfism ^¹, ²
fibroblast growth factor receptor 3 ^²
hydroxyaryl-protein kinase ^²
tyrosine kinase JTK4 ^²

External Ids
HGNC: 3690¹
Entrez Gene: 2261²
UniProtKB: P22607³
Ensembl: ENSG00000068078⁷

Search outside databases for aliases for FGFR3 gene

Previous GC identifers: GC04P001787 GC04P001757

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for FGFR3:

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where

amino acid sequence is highly conserved between members and throughout evolution. FGFR family

members differ from one another in their ligand affinities and tissue distribution. A full-length

representative protein would consist of an extracellular region, composed of three

immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic

tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth

factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and

differentiation. This particular family member binds acidic and basic fibroblast growth hormone

and plays a role in bone development and maintenance. Mutations in this gene lead to

craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and

additional variants have been described, including those utilizing alternate exon 8 rather than 9,

but their full-length nature has not been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607

Function: Receptor for acidic and basic fibroblast growth factors. Preferentially binds FGF1

Gene Wiki entry for FGFR3 (Fibroblast_growth_factor_receptor_3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the FGFR3 gene

Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3

FGFR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P001762: (about GC identifiers)

Start:	1,764,832 bp from pter
End:	1,780,396 bp from pter
Size:	15,565 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000004.10 NT_006081.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607 (See protein sequence)

Recommended Name: Fibroblast growth factor receptor 3 precursor

Size: 806 amino acids; 87710 Da

Subcellular location: Membrane; Single-pass type I membrane protein

PDB structures from and Proteopedia :

1RY7 (3D)

Secondary accessions: Q14308 Q16294 Q16608

Alternative splicing: 3 isoforms: P22607-1 P22607-2 P22607-3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000133.1 NP_075254.1

ENSEMBL proteins:

ENSP00000323596 ENSP00000231803 ENSP00000339824 ENSP00000260795 ENSP00000354170

Human Recombinant Proteins

	Invitrogen human recombinant proteins for FGFR3
	Millipore Purified and/or Recombinant FGFR3 Protein
	Sigma-Aldrich Proteins for FGFR3
	R&D Systems Recombinant & Natural Proteins for FGFR3 (FGF R3)
	Enzo Life Sciences proteins for FGFR3
	Recombinant Proteins from Abcam (FGFR3, FGFR3a + Fc Fragment)
	Human Recombinant Proteins from Abnova (FGFR3)

OriGene Purified Recombinant Human Protein: FGFR3

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	EXP	11294897 16597617
GO:0005887	integral to plasma membrane	TAS	10918587

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Antibodies for FGFR3:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for FGFR3
	R&D Systems Antibodies for FGFR3 (FGF R3)
	Cell Signaling Technology (CST) Antibodies for FGFR3 (FGFR-3)
	Antibodies from Abcam (FGFR3, FGFR3a + Fc Fragment), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (FGFR3)
	Novus Biologicals Antibodies for FGFR3

Assays for FGFR3:

	Invitrogen Assays for FGFR3
	Millipore Kits and Assays for the Analysis of FGFR3
	R&D Systems ELISAs for FGFR3 (FGF R3) (see all)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P22607

ProtoNet protein and cluster: P22607

3 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB008266 Tyrosine protein kinase

IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth

factor receptor subfamily

Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FGFR3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FGFR3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000142

Applied Biosystems Silencer® siRNAs for FGFR3

Sigma-Aldrich siRNA and siRNA Panels for FGFR3

Sigma-Aldrich shRNA Panels and shRNA for FGFR3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000142
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000142
untagged cDNA clones in CMV expression vector (see all 2): NM_000142

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000142

UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607

Function: Receptor for acidic and basic fibroblast growth factors. Preferentially binds FGF1

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Enzyme Number (IUBMB): EC 2.7.10.1

Genatlas biochemistry entry for FGFR3:

fibroblast growth factor receptor 3,with two isoforms FGFRIIIb,FGFRIIIc,chicken embryo kinase (CEK)

homolog,negative regulator of bone growth playing oncogenic role in bladder and cervix carcinomas

15/20 MGI mutant phenotypes (inferred from 19 alleles) (MGI details for Fgfr3) (see all 20 ):

behavior/neurological	cellular	craniofacial	digestive/alimentary	growth/size
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	nervous system	no phenotypic analysis

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004872	receptor activity	IEA	--
GO:0005007	fibroblast growth factor receptor activity	NAS	7923141
GO:0005524	ATP binding	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for FGFR3 (Your Favorite Gene powered by Ingenuity)

Bladder Cancer Signaling
Human Embryonic Stem Cell Pluripotency
FGF Signaling

GeneDecks FGFR3 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for FGFR3

5/69 Interacting proteins for FGFR3 (P22607^{1, 2} ENSP00000354170³) via UniProtKB, MINT, and/or STRING (see all 69 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FGF1	P05230¹, ENSP00000338548³	EBI-348399, EBI-698068 STRING (score=.999)
GPSM3	Q9Y4H4¹^,²	EBI-348399, EBI-347538 MINT-62616 MINT-62790 MINT-62714 EBI-348399, EBI-347538 MINT-62616 MINT-62790 MINT-62714
FGFR3	P22607¹	EBI-348399, EBI-348399
GPSM3	Q9Y4H4¹^,²	EBI-348399, EBI-347538 MINT-62616 MINT-62790 MINT-62714 EBI-348399, EBI-347538 MINT-62616 MINT-62790 MINT-62714
FGF3	ENSP00000334122³	STRING (score=.999)

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5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPKKK cascade	TAS	10918587
GO:0001501	skeletal system development	TAS	8601314
GO:0006468	protein amino acid phosphorylation	IEA	--
GO:0007259	JAK-STAT cascade	TAS	10918587
GO:0007605	sensory perception of sound	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for FGFR3 available from Tocris Bioscience

Compound	Action	CAS number
SU 6668	PDGFR, VEGFR and FGFR inhibitor	[252916-29-3]
Anti-FGF-3 (Clone MSD1)	Antibody recognizing FGF-3
SU 5402	Potent FGFR and VEGFR inhibitor	[215543-92-3]

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10/11 Novoseek chemical compound relationships for FGFR3 gene (see all 11 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pd 173074	82.66	5	14715624 (2), 15029211 (1), 16849642 (1)
su5402	69.20	6	14871245 (5), 15029211 (1)
tyrosine	62.69	100	19223461 (5), 11294897 (4), 17785202 (3), 11827956 (3) (see all 53)
calcium	0.32	4	18093889 (2), 9158142 (1)
phenylalanine	0.00	2	15784730 (1), 11294897 (1)
lysine	0.00	2	17875876 (1), 9672519 (1)
oligonucleotide	0.00	1	12393593 (1)
sulfate	0.00	3	8825578 (1), 8791509 (1)
lipid	0.00	7	16950849 (1), 18559252 (1), 17845056 (1), 16634636 (1) (see all 5)
threonine	0.00	3	17785199 (1), 17875876 (1), 16965395 (1), 17785202 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FGFR3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FGFR3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000142

Sigma-Aldrich siRNA and siRNA Panels for FGFR3

Sigma-Aldrich shRNA Panels and shRNA for FGFR3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000142 NM_022965

REFSEQ mRNAs for FGFR3 gene (2 alternative transcripts):

NM_000142.3 NM_022965.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000142 NM_022965

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000142
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000142
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000142

Additional cDNA sequence:

AB209441.1 AF238374.1 AF245114.1 AF369211.1 AF369212.1 AF369213.1 AK308936.1 BC121175.2

BC128610.1 BC153824.1 M58051.1 M59374.1 M64347.1 X84939.1

8 DOTS entries:

DT.95166079 DT.101980674 DT.100022521 DT.95166080 DT.75155534 DT.121271416 DT.121271450 DT.91776752

24/132 AceView cDNA sequences (see all 132 ):

BU683104 AI969759 CA445194 AI640755 AI638209 BG059722 AI078769 BF762956

BQ574240 BG289397 BM982604 BE466386 AA587307 AI057095 BF057214 AI655715

AW237163 AF369213 BM670295 BG403404 CD674871 BM969149 BE552216 AI659722

highest scoring ESTs for FGFR3:

M64347 AA253402 AA253505 AA410992 AA411000 AA417654 AA417704 AA419497 AA419508 AA419620

Unigene Cluster for FGFR3:

Fibroblast growth factor receptor 3

Hs.1420 [show with all ESTs]

Unigene Representative Sequence: NM_000142

GeneLoc Exon Structure

5 Ensembl transcripts including schematic representations:

ENST00000312875 ENST00000352904 ENST00000340107 ENST00000260795 ENST00000360915

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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FGFR3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FGFR3

¹ / ² / ³

5 probe-sets matching FGFR3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31805_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	M64347	1.00	1.00	1.00	1
204380_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M58051	0.80	1.00	0.91	1
204379_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000142	0.60	1.00	0.82	1
204380_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204379_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FGFR3 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GTGGCCAGAG

SOURCE GeneReport for Unigene cluster: Hs.1420
Expression variation in blood from EXPOLDB for FGFR3
UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607
Tissue specificity: Expressed in brain, kidney and testis. Very low or no expression in spleen,
heart, and muscle. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung,
small intestine and brain, and to a lower degree in spleen, liver, and muscle. Epithelial cells
show exclusively isoform 2 transcripts while fibroblastic cells show a mixture of isoform 1 and
isoform 2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for FGFR3 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FGFR3¹	--	fibroblast growth factor receptor 3	89.58(n) 94.7(a)	488808 XM_545926.2 XP_545926.2
cow (Bos taurus)	FGFR3¹	--	fibroblast growth factor receptor 3	89.48(n) 92.52(a)	281769 NM_174318.2 NP_776743.1
rat (Rattus norvegicus)	Fgfr3¹	--	fibroblast growth factor receptor 3	85.62(n) 93.12(a)	84489 NM_053429.1 NP_445881.1
mouse (Mus musculus)	Fgfr3^{1, 5}	5 (20.00 cM)⁵	fibroblast growth factor receptor 3^{1, 5}	85.62(n)¹ 93.37(a)¹	14184¹ NM_008010.3¹ NP_032036.2¹ AF024638⁵ AK140217⁵ (see all 34)
chicken (Gallus gallus)	FGFR3¹	--	fibroblast growth factor receptor 3	74.82(n) 81.5(a)	396515 NM_205509.1 NP_990840.1

About this table Species with no ortholog for FGFR3

ENSEMBL Gene Tree for FGFR3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for FGFR3 gene

FGFR4²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/213 NCBI SNPs in FGFR3 are shown (see all 213 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 143)

AB	SNP ID	Valid	Chr 4 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs3135904^1,2	A,C,F,H	1779585(+)	`AGGGCT/CTTTTC`	2	--	ut3¹		5		NS EU EA WA	572
--	rs3135902^1,2	C,F,H	1778989(+)	`CAGGTG/ACAGAG`	2	--	ut3¹ ese³		8		EU EA WA	804
	rs12502543^1,2	A,C	1763723(+)	`GGTGGA/GGCTGT`	2	--	ng5¹		0	--	--	--	--
	rs736436^1,2	A,F	1763986(-)	`GCTGGA/GGGTGC`	2	--	ng5¹		3		NA EA	232
	rs3135900^1,2	C,F	1778823(+)	`TCCCTA/GGCAGC`	2	--	ut3¹ ese³		2		NA NS	218
--	rs3135901^1,2	C,F	1778971(+)	`GCGTGC/TGCATC`	2	--	ut3¹ ese³		7		NS	840
--	rs4450996^1,2	C,F	1765119(+)	`CGCTCA/CGGAAA`	2	--	ng5¹		1		NS	176
	rs17883505^1,2	F	1764565(+)	`GGTGCG/ACCCCG`	2	--	ng5¹		1		NS	176
--	rs17881656^1,2	C	1775929(+)	`GCTTCT/CTCCTG`	2	L/F	mis¹ int¹ ese³		1		NS	180
--	rs17883219^1,2	F	1764607(+)	`CGACTA/GGGGGC`	2	--	ng5¹		1		NS	176

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HapMap Linkage Disequilibrium images for FGFR3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 134934 disorders: 100800 146000 187600 612247 602849 109800 109800 603956 149730 610474 162900

UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607

Defects in FGFR3 are the cause of achondroplasia (ACH) [MIM:100800]. ACH is an autosomal

dominant disease and is the most frequent form of short-limb dwarfism. It is characterized by a

long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large

head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands

Defects in FGFR3 are the cause of Crouzon syndrome with acanthosis nigricans (CAN)

[MIM:612247]. Classic Crouzon disease which is caused by mutations in the FGFR2 gene is

characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia.

Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation

anomalies), CAN, is considered to be an independant disorder from classic Crouzon syndrome. CAN is

characterized by additional more severe physical manifestation, such as Chiari malformation,

hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation

(Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosonal

dominant mode of inheritance

Defects in FGFR3 are the cause of platyspondylic lethal skeletal dysplasia Sand Diego type

(PLSD-SD) [MIM:270230]. Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous

group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-SD is

characterized by postnatal growth deficiency, mild developmental delay, short trunk, craniofacial

abnormalities, platyspondyly, delayed ossification, generalized osteoporosis and thin ribs

Defects in FGFR3 are a cause of thanatophoric dysplasia (TD) [MIM:187600, 187601]; also

known as thanatophoric dwarfism. TD is the most common neonatal lethal skeletal dysplasia.

Affected individuals display features similar to those seen in homozygous achondroplasia. It

causes severe shortening of the limbs with macrocephaly, narrow thorax and short ribs. In the most

common subtype, TD1, femur are curved, while in TD2, straight femurs are associated with

cloverleaf skull. Mutations affecting different functional domains of FGFR3 cause different forms

of this lethal disorder

Defects in FGFR3 are a cause of hypochondroplasia (HCH) [MIM:146000]. HCH is an autosomal

dominant disease and is characterized by disproportionate short stature. It resembles

achondroplasia, but with a less severe phenotype

Defects in FGFR3 are a cause of bladder cancer [MIM:109800]. Somatic mutations can

constitutively activate FGFR3

Defects in FGFR3 are a cause of cervical cancer [MIM:603956]

Defects in FGFR3 are the cause of camptodactyly tall stature and hearing loss syndrome

(CATSHL syndrome) [MIM:610474]. CATSHL syndrome is an autosomal dominant syndrome characterized by

permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature,

scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental

delay and/or mental retardation, and several of these have microcephaly. Radiographic findings

included tall vertebral bodies with irregular borders and broad femoral metaphyses with long

tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss

and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy,

progressed variably in early childhood, and range from mild to severe. Computed tomography and

magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally

normal

A chromosomal aberration involving FGFR3 may be a cause of multiple myeloma (MM)

[MIM:254500]. Translocation t(4;14)(p16.3;q32.3) with the IgH locus

Defects in FGFR3 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS)

[MIM:149730]; also known as Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a

heterogeneous group of disorders due to abnormal development of two or more ectodermal structures.

LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and

salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and

distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism,

malformations of the kidney and respiratory system and abnormal genitalia have been reported.

Craniosynostosis and severe syndactyly are not observed

Defects in FGFR3 are a cause of keratinocytic non-epidermolytic nevus [MIM:162900]; also

called pigmented moles. Epidermal nevi of the common, non-organoid and non-epidermolytic type are

benign skin lesions and may vary in their extent from a single (usually linear) lesion to

widespread and systematized involvement. They may be present at birth or develop early during

childhood

Defects in FGFR3 are a cause of Muenke syndrome (MNKS) [MIM:602849]; also known as Muenke

non-syndromic coronal craniosynostosis. MNKS is a condition characterized by premature closure of

coronal suture of skull during development (coronal craniosynostosis), which affects the shape of

the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull

with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the

orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to

flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition

to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and

feet, sensorineural hearing loss, mental retardation and respiratory insufficiency

10/82 Novoseek disease relationships for FGFR3 gene (see all 82 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
achondroplasia	97.28	252	12921294 (4), 18199430 (4), 12816345 (3), 7758520 (3) (see all 99)
thanatophoric dysplasia	97.09	124	8723101 (3), 9055906 (2), 9438390 (2), 9582336 (2) (see all 72)
hypochondroplasia	96.58	108	11071087 (5), 9055906 (4), 8723101 (3), 7670477 (3) (see all 50)
muenke syndrome	93.64	14	18000976 (1), 16251895 (1), 12794698 (1), 17103449 (1) (see all 11)
skeletal dysplasia	92.10	77	15772091 (3), 11526491 (2), 9438390 (2), 9887329 (2) (see all 46)
craniosynostosis	90.08	80	11197897 (4), 9107244 (3), 9600744 (3), 14629875 (2) (see all 50)
dwarfism	89.72	72	12354143 (3), 10587515 (2), 11181569 (2), 12929929 (2) (see all 43)
crouzon syndrome	86.80	27	7493034 (3), 11426459 (2), 10696568 (2), 8880573 (2) (see all 17)
jackson-weiss syndrome	85.92	1	11571861 (1)
pfeiffer syndrome	84.26	6	11596961 (1), 11173845 (1), 11571861 (1), 15241680 (1) (see all 6)

About this table

GeneTests: FGFR3

Achondroplasia

Human Gene Mutation Database: FGFR3
Genetic Association Database: FGFR3
Human Genome Epidemiology Navigator: FGFR3 (22 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/633 PubMed articles for FGFR3 gene (see all 633 ):

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. (PubMed id 1847508)^{2, 3, 4} Keegan K.... Hayman M.J. (1991)
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. (PubMed id 11314002)^{1, 3, 4} Sibley K.... Knowles M.A. (2001)
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. (PubMed id 16841094)^{1, 3, 4} Hafner C.... Hartmann A. (2006)
FGFR3 and Tp53 mutations in T1G3 transitional bladder carcinomas: independent distribution and lack of association with prognosis. (PubMed id 16061860)^{1, 3, 6} Hernandez S....Real F.X. (2005)
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. (PubMed id 9790257)^{1, 3, 4} Katsumata N.... Tanaka T. (1998)
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. (PubMed id 8599935)^{1, 3, 4} Webster M.K. and Donoghue D.J. (1996)
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (PubMed id 7493034)^{1, 3, 4} Meyers G.A.... Jabs E.W. (1995)
Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium. (PubMed id 7923141)^{1, 3, 4} Murgue B.... Podolsky D.K. (1994)
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. (PubMed id 7758520)^{1, 3, 4} Superti-Furga A.... Steinmann B. (1995)
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. (PubMed id 8078586)^{1, 3, 4} Rousseau F.... Munnich A. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 2261	HGNC: 3690	AceView: FGFR3	Ensembl:ENSG00000068078	euGenes: HUgn2261
ECgene: FGFR3	H-InvDB: FGFR3

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for FGFR3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=FGFR3
NIEHS-SNPs	http://egp.gs.washington.edu/data/fgfr3/

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FGFR3 Gene

protein-coding GIFtS: 74

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FGFR3 Gene

protein-coding GIFtS: 74

Aliases & Descriptionsfor FGFR3

Summariesfor FGFR3

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Search for FGFR3

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for FGFR3

Summaries
for FGFR3

Genomic Location
for FGFR3

Proteins
for FGFR3

Protein Domains/
Families
for FGFR3

Gene Function
for FGFR3

Pathways & Interactions
for FGFR3

Drugs & Compounds
for FGFR3

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for FGFR3

Expression
for FGFR3

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for FGFR3

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for FGFR3

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for FGFR3

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