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FGFR2 Gene

protein-coding GIFtS: 76

GC10M123223

fibroblast growth factor receptor 2
(Previous names: bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Jackson-Weiss syndrome )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: KGFR, BEK, CFD1, JWS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
BEK ^², ³, ⁵
BFR-1 ^²
CD332 ^¹, ²
CEK3 ^¹, ²
CFD1 ^², ⁵
EC 2.7.10.1 ^³
ECT1 ^¹, ²
FGFR-2 ^³
FLJ98662 ^²
JWS ^², ⁵
K-SAM ^¹, ²
KGFR ^², ³
KSAM ^³
OTTHUMP00000020621 ^²
OTTHUMP00000020629 ^²
TK14 ^¹, ²
TK25 ^¹, ²

Descriptions
BEK fibroblast growth factor receptor ^²
CD332 antigen ^³
FGF receptor ^²
Jackson-Weiss syndrome ^¹
Keratinocyte growth factor receptor 2 ^³
bacteria-expressed kinase ^¹, ²
craniofacial dysostosis 1 ^¹
fibroblast growth factor receptor 2 ^²
hydroxyaryl-protein kinase ^²
keratinocyte growth factor receptor ^¹, ²
protein tyrosine kinase, receptor like 14 ^²
soluble FGFR4 variant 4 ^²

External Ids
HGNC: 3689¹
Entrez Gene: 2263²
UniProtKB: P21802³
Ensembl: ENSG00000066468⁷

Search outside databases for aliases for FGFR2 gene

Previous GC identifers: GC10M121401 GC10M122481 GC10M123369 GC10M122902 GC10M122147 GC10M122473

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

EntrezGene summary for FGFR2:

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 consists 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 is a high-affinity receptor for acidic, basic and/or keratinocyte

growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon

syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome,

Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis.

Multiple alternatively spliced transcript variants encoding different isoforms have been noted for

this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802

Function: Receptor for acidic and basic fibroblast growth factors

Gene Wiki entry for FGFR2 (Fibroblast_growth_factor_receptor_2)

(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 FGFR2 gene

Entrez Gene cytogenetic band: 10q26 Ensembl cytogenetic band: 10q26.13 HGNC cytogenetic band: 10q25.3-q26

FGFR2 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 10 GeneLoc Exon Structure

GeneLoc location for GC10M123223: (about GC identifiers)

Start:	123,223,889 bp from pter
End:	123,347,962 bp from pter
Size:	124,074 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000010.9 NT_030059.12

(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: FGFR2_HUMAN, P21802 (See protein sequence)

Recommended Name: Fibroblast growth factor receptor 2 precursor

Size: 821 amino acids; 92025 Da

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

Subcellular location: Isoform 14: Secreted

Subcellular location: Isoform 19: Secreted

PDB structures from and Proteopedia :

1DJS (3D)

1E0O (3D)

1EV2 (3D)

1GJO (3D)

1II4 (3D)

1IIL (3D)

1NUN (3D)

1OEC (3D)

1WVZ (3D)

2FDB (3D)

2PSQ (3D)

2PVF (3D)

2PVY (3D)

2PWL (3D)

2PY3 (3D)

2PZ5 (3D)

2PZP (3D)

2PZR (3D)

2Q0B (3D)

3B2T (3D)

3CAF (3D)

3CLY (3D)

3CU1 (3D)

3DAR (3D)

Secondary accessions: P18443 Q01742 Q12922 Q14300 Q14301 Q14302 Q14303 Q14304 Q14305 Q14672 Q14718

Q14719 Q1KHY5 Q86YI4 Q96KL9 Q96KM0 Q96KM1 Q96KM2 Q9NZU2 Q9NZU3 Q9UD01 Q9UD02 Q9UIH3 Q9UIH4 Q9UIH5

Q9UIH6 Q9UIH7 Q9UIH8 Q9UM87 Q9UMC6 Q9UNS7 Q9UQH7 Q9UQH8 Q9UQH9 Q9UQI0

Alternative splicing: 20 isoforms: P21802-1 P21802-2 P21802-3 P21802-4 P21802-5 P21802-6 P21802-7 P21802-8

P21802-9 P21802-10 P21802-11 P21802-12 P21802-13 P21802-14 P21802-15 P21802-16

P21802-17 P21802-18 P21802-19 P21802-20

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (9 alternative transcripts):

NP_000132.3 NP_001138385.1 NP_001138386.1 NP_001138387.1 NP_001138388.1 NP_001138389.1 NP_001138390.1 NP_001138391.1

NP_075259.4

ENSEMBL proteins:

ENSP00000358054 ENSP00000309878 ENSP00000350166 ENSP00000358058 ENSP00000351276 ENSP00000263454

ENSP00000358057 ENSP00000358056 ENSP00000348559 ENSP00000358055 ENSP00000263451 ENSP00000333090

ENSP00000337665 ENSP00000353262 ENSP00000358052 ENSP00000352309

Human Recombinant Proteins

	Invitrogen human recombinant proteins for FGFR2
	Millipore Purified and/or Recombinant FGFR2 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for FGFR2 (FGF R2)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (FGFR2, FGFR2a + Fc Fragment)
	Human Recombinant Proteins from Abnova (FGFR2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0009986	cell surface	IDA	12493773
GO:0016021	integral to membrane	NAS	1697263

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Antibodies for FGFR2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for FGFR2
	R&D Systems Antibodies for FGFR2 (FGF R2)
	Cell Signaling Technology (CST) Antibodies for FGFR2 (FGFR-2)
	Antibodies from Abcam (FGFR2, FGFR2a + Fc Fragment), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (FGFR2)
	Novus Biologicals Antibodies for FGFR2

Assays for FGFR2:

	Invitrogen Assays for FGFR2
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for FGFR2 (FGF R2) (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)
About This Section

Graphical View of Domain Structure for InterPro Entry P21802

ProtoNet protein and cluster: P21802

2 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB008266 Tyrosine protein kinase

UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802

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.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FGFR2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FGFR2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 21): BC039243

Applied Biosystems Silencer® siRNAs for FGFR2

Sigma-Aldrich siRNA and siRNA Panels for FGFR2

Sigma-Aldrich shRNA Panels and shRNA for FGFR2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for FGFR2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 9): NM_000141
Myc/DDK tagged cDNA clones in CMV expression vector (see all 9): NM_000141
untagged cDNA clones in CMV expression vector (see all 14): BC039243

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_022970

UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802

Function: Receptor for acidic and basic fibroblast growth factors

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 FGFR2:

fibroblast growth factor receptor 2,involved in vertebral development

15/29 MGI mutant phenotypes (inferred from 24 alleles) (MGI details for Fgfr2) (see all 29 ):

	behavior/neurological	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging

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

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	1400433 1697263 8676562
GO:0005515	protein binding	IPI	10618369 12591959 17981115
GO:0005524	ATP binding	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 FGFR2 (Your Favorite Gene powered by Ingenuity)

FGF Signaling
Human Embryonic Stem Cell Pluripotency
Hepatic Fibrosis / Hepatic Stellate Cell Activation

GeneDecks FGFR2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for FGFR2

5/86 Interacting proteins for FGFR2 (P21802^{1, 2} ENSP00000333090³) via UniProtKB, MINT, and/or STRING (see all 86 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FGF2	P09038¹, ENSP00000264498³	EBI-1028732, EBI-977447 STRING (score=.999)
FGF1	P05230¹^,², ENSP00000338548³	EBI-1028658, EBI-698068 MINT-25002 EBI-1028658, EBI-698068 MINT-25002 STRING (score=.999)
FGF10	O15520¹^,², ENSP00000264664³	EBI-1028658, EBI-1035684 MINT-24798 EBI-1028658, EBI-1035684 MINT-24798 STRING (score=.999)
FGF1	P05230¹^,², ENSP00000338548³	EBI-1028658, EBI-698068 MINT-25002 EBI-1028658, EBI-698068 MINT-25002 STRING (score=.999)
FGF10	O15520¹^,², ENSP00000264664³	EBI-1028658, EBI-1035684 MINT-24798 EBI-1028658, EBI-1035684 MINT-24798 STRING (score=.999)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein amino acid phosphorylation	NAS	1697263
GO:0008543	fibroblast growth factor receptor signaling pathway	EXP	17133345
GO:0016049	cell growth	NAS	8676562

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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 FGFR2 available from Tocris Bioscience

Compound	Action	CAS number
SU 6668	PDGFR, VEGFR and FGFR inhibitor	[252916-29-3]
SU 5402	Potent FGFR and VEGFR inhibitor	[215543-92-3]

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10/37 Novoseek chemical compound relationships for FGFR2 gene (see all 37 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pd 173074	87.43	11	16840552 (1), 19243295 (1), 14598292 (1), 15342484 (1) (see all 8)
su5402	81.58	7	11784082 (1), 15654655 (1), 10544294 (1), 15973728 (1) (see all 7)
tyrosine	74.75	138	15629145 (3), 16354720 (3), 15523615 (2), 1379245 (2) (see all 99)
heparan sulfate	69.49	26	10512728 (2), 8557766 (1), 15915098 (1), 18710495 (1) (see all 18)
phosphotyrosine	38.15	4	7521641 (1), 12162872 (1), 8840162 (1), 16682955 (1)
thymidine	20.66	7	10815916 (2), 8394679 (1), 17953372 (1), 17169545 (1) (see all 6)
progesterone	19.85	19	18292933 (2), 17581308 (2), 17962170 (1), 15825560 (1) (see all 10)
pd 98,059	18.79	2	17277739 (1), 19111446 (1)
bromodeoxyuridine	17.40	3	11095249 (1), 15137055 (1)
glycosaminoglycan	14.47	4	10490614 (3), 10051565 (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 (FGFR2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FGFR2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 21): BC039243

Sigma-Aldrich siRNA and siRNA Panels for FGFR2

Sigma-Aldrich shRNA Panels and shRNA for FGFR2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000141 NM_022970

REFSEQ mRNAs for FGFR2 gene (9 alternative transcripts):

NM_000141.4 NM_001144913.1 NM_001144914.1 NM_001144915.1 NM_001144916.1 NM_001144917.1 NM_001144918.1 NM_001144919.1

NM_022970.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000141 NM_022970

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 9): NM_000141
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 9): NM_000141
                                 untagged cDNA clones in CMV expression vector (see all 14): BC039243

Additional cDNA sequence:

AB030073.1 AB030074.1 AB030075.1 AB030076.1 AB030077.1 AB030078.1 AB084153.1 AK026508.1

AK294026.1 AK308621.1 BC037338.2 BC039243.1 BC096749.1 EU826598.1 EU826599.1 EU826600.1

EU826601.1 M55614.1 M80634.1 M87770.1 M87771.1 M87772.1 M97193.1 S41878.1

U11814.1 X52832.1 X56191.1 Z71929.1

24 DOTS entries:

DT.91774392 DT.100880652 DT.95271847 DT.100045234 DT.100880682 DT.100880685 DT.91774369 DT.86855222

DT.120440 DT.120443 DT.121213034 DT.95257787 DT.95271840 DT.75126780 DT.40111318 DT.95271845

DT.97810034 DT.100760191 DT.121213009 DT.121213017 DT.121213065 DT.40251431 DT.75162513 DT.91893910

24/286 AceView cDNA sequences (see all 286 ):

H88160 BM706042 NM_000141 CA440010 R77151 BE932236 CB243667 CD675930

AI638356 AI142488 AA033657 AI188214 CA428050 S41878 AB084153 BI035787

AA424505 NM_022970 CB305736 H87979 AI073906 BM700099 BX499228 BM797325

highest scoring ESTs for FGFR2:

M80634 M87770 AA772398 AB030074 AB030075 AB030076 AB030077 AB030078 AI083781 AI092260

Unigene Cluster for FGFR2:

Fibroblast growth factor receptor 2

Hs.533683 [show with all ESTs]

Unigene Representative Sequence: NM_022970

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for FGFR2 (see all 10 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16a	·	16b	^	17	^	18	^	19	^	20	^	21	^	22	^
SP1:																	-		-		-		-		-		-						-		-
SP2:																	-		-		-		-		-		-				-		-
SP3:																															-		-
SP4:									-		-						-		-		-		-		-		-				-		-						-
SP5:																	-		-		-		-		-		-				-		-		-		-		-

ExUns:	23	^	24	^	25a	·	25b	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for FGFR2

16 Ensembl transcripts including schematic representations:

ENST00000369058 ENST00000351936 ENST00000357555 ENST00000369062 ENST00000358487 ENST00000345309

ENST00000369061 ENST00000369060 ENST00000356226 ENST00000369059 ENST00000346997 ENST00000328075

ENST00000336553 ENST00000360144 ENST00000369056 ENST00000359354

(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 )
About This Section

FGFR2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FGFR2

¹ / ² / ³

29 probe-sets matching FGFR2 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
1144_at²^{, 3}	U95-A	1	1.00	1.00	-0.23	0.29	HG3432-HT3621	0.20	1.00	0.72	1
1145_g_at²^{, 3}	U95-A	1	1.00	1.00	0.92	0.53	HG3432-HT3621	0.20	1.00	0.72	1
1143_s_at²^{, 3}	U95-A	1	1.00	1.00	0.97	0.97	HG3432-HT3620	0.20	1.00	0.72	1
1363_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.16	M87770	1.00	1.00	1.00	1
1970_s_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.04	Z71929	0.80	1.00	0.91	1
34354_at²^{, 3}	U95-A	2	1.00	0.97	0.99	1.05	M80634	1.00	1.00	1.00	1
84435_at²^{, 3}	U95-E	1	0.38	1.00	0.67	1.39	W87790	0.60	1.00	0.82	1
1142_at*²^{, 3}	U95-A	1	0.69	1.00	-0.23	0.95	HG3432-HT3618	0.20	1.00	0.72	1
73572_at*²	U95-D	1	--	--	-0.16	1.11	--	--	--	--	--
211399_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB030077	0.80	1.00	0.91	1
203639_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M80634	1.00	1.00	1.00	1
208234_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_022976	0.40	1.00	0.76	1
208225_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_022971	0.40	1.00	0.76	1
211398_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB030075	0.80	1.00	0.91	1
211401_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB030078	0.80	1.00	0.91	1
208228_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M87771	0.80	1.00	0.91	1
203638_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_022969	0.40	1.00	0.76	1
211400_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB030073	0.80	0.88	0.84	1
208229_at*²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_022975	0.40	1.00	0.76	1
211399_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203639_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208234_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208225_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211398_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211401_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208228_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203638_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211400_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208229_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FGFR2 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: CCATTGCATT

SOURCE GeneReport for Unigene cluster: Hs.533683
Expression variation in blood from EXPOLDB for FGFR2

(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 FGFR2 gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FGFR2¹	--	fibroblast growth factor receptor 2	89.41(n) 95.95(a)	415125 NM_001003336.1 NP_001003336.1
chimpanzee (Pan troglodytes)	FGFR2¹	--	fibroblast growth factor receptor 2	99.02(n) 99.02(a)	466220 XM_001157227.1 XP_001157227.1
cow (Bos taurus)	FGFR2¹	--	fibroblast growth factor receptor 2	92.14(n) 97.07(a)	404193 XM_880481.2 XP_885574.2
rat (Rattus norvegicus)	Fgfr2¹	--	fibroblast growth factor receptor 2	91.33(n) 97.19(a)	25022 XM_341940.3 XP_341941.3
mouse (Mus musculus)	Fgfr2^{1, 5}	7 (62.00 cM)⁵	fibroblast growth factor receptor 2^{1, 5}	91.6(n)¹ 97.56(a)¹	14183¹ NM_010207.2¹ NP_034337.2¹ AK081810⁵ AU043015⁵ (see all 40)

About this table Species with no ortholog for FGFR2

ENSEMBL Gene Tree for FGFR2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for FGFR2 gene

RET² FGFR1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/896 NCBI SNPs in FGFR2 are shown (see all 896 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 333)

AB	SNP ID	Valid	Chr 10 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1047057^1,2	A,C,F,H,O	123229102(-)	`GCGTAC/TTGGCT`	2	--	ut3¹ ese³		13		MN NA EU EA WA NS	934
	rs1219639^1,2	A,C,F,H,O	123348302(+)	`AACAAG/ATGACC`	2	--	ng3¹		5		MN EU EA WA	602
	rs755793^1,2	A,C,F,H	123300861(-)	`CCCAAT/CGCCAA`	2	T/M	mis¹ ese³		21		NA EA MN EU WA NS	1678
	rs3135826^1,2	C,F,H	123228958(-)	`TATTCA/GAATTA`	2	--	ut3¹		9		NS EU EA WA	576
	rs3135830^1,2	C,F,H	123228042(-)	`TCTGTA/GCTAAA`	2	--	ut3¹		9		NS EU EA WA	594
	rs2454810^1,2	A,C,F	123349576(-)	`TGGCAG/ACCTGC`	2	--	ng3¹		5		NS	154
--	rs4647917^1,2	C,F	123229177(-)	`TTCCCC/TAGGAG`	2	--	ut3¹ ese³		6		NA NS	228
	rs1863744^1,2	A,C	123348263(+)	`CTGAGC/TGACTG`	2	--	ng3¹		0	--	--	--	--
--	rs41301039^1,2	F	123348086(-)	`CGCGGG/CACTCG`	2	--	ng3¹		5		NS	132
--	rs41301547^1,2	F	123347633(-)	`CCGCAG/CCCTGG`	2	--	ut5¹		5		NS	188

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HapMap Linkage Disequilibrium images for FGFR2 (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.)
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OMIM: 176943

UniProtKB/Swiss-Prot: FGFR2_HUMAN, P21802

Defects in FGFR2 are the cause of Crouzon syndrome (CS) [MIM:123500]; also called

craniofacial dysostosis type I (CFD1). CS is an autosomal dominant syndrome characterized by

craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external

strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular

prognathism

Defects in FGFR2 are a cause of Jackson-Weiss syndrome (JWS) [MIM:123150]. JWS is an

autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and

abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence

Defects in FGFR2 are a cause of Apert syndrome (APRS) [MIM:101200]; also known as

acrocephalosyndactyly type 1 (ACS1). APRS is a syndrome characterized by facio-cranio-synostosis,

osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The

craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly

of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second,

third, and fourth digits. Intellectual deficit is frequent and often severe, usually being

associated with cerebral malformations

Defects in FGFR2 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as

acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of

the skull sutures) with deviation and enlargement of the thumbs and great toes,

brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly.

Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1);

cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise,

sporadic (type 3)

Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSCGS)

[MIM:123790]. BSCGS is an autosomal dominant condition is characterized by the furrowed skin

disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism,

digital anomalies, umbilical and anogenital abnormalities and early death

Defects in FGFR2 are the cause of familial scaphocephaly syndrome (FSPC) [MIM:609579];

also known as scaphocephaly with maxillary retrusion and mental retardation. FSPC is an autosomal

dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism,

maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the

craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature

fusion of the sagittal suture or from external deformation

Defects in FGFR2 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 FGFR2 are the cause of Antley-Bixler syndrome (ABS) [MIM:207410]. ABS is a

multiple congenital anomaly syndrome characterized by craniosynostosis, radiohumeral synostosis,

midface hypoplasia, malformed ears, arachnodactyly and multiple joint contractures. ABS is a

heterogeneous disorder and occurs with and without abnormal genitalia in both sexes

10/91 Novoseek disease relationships for FGFR2 gene (see all 91 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pfeiffer syndrome	94.70	56	10712195 (2), 15523615 (2), 9462761 (2), 8644708 (2) (see all 38)
apert syndrome	93.58	127	15041782 (5), 11596961 (4), 17251833 (4), 18242159 (4) (see all 66)
craniosynostosis	93.13	149	11781872 (4), 18391499 (3), 10951518 (3), 11711827 (3) (see all 89)
crouzon syndrome	92.26	89	7607643 (3), 7581378 (3), 12186468 (3), 15916101 (3) (see all 51)
jackson-weiss syndrome	87.49	9	9385368 (2), 7581378 (2), 17552943 (1), 11571861 (1) (see all 7)
antley-bixler syndrome	86.06	5	9605588 (1), 11430730 (1), 18259105 (1), 15793702 (1)
syndactyly	81.76	18	9973282 (2), 8651276 (2), 9843049 (1), 9719378 (1) (see all 12)
muenke syndrome	75.81	1	11571861 (1)
synostosis	74.36	4	11335797 (1), 16299148 (1), 17538304 (1), 12567409 (1)
beare-stevenson cutis gyrata syndrome	73.25	3	8696350 (2), 12000365 (1)

About this table

GeneTests: FGFR2

FGFR-Related Craniosynostosis

Human Gene Mutation Database: FGFR2
Genetic Association Database: FGFR2
Human Genome Epidemiology Navigator: FGFR2 (27 documents)
Tumor Gene Database: FGFR2
Breast Cancer Gene Database: FGFR2

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

Molecular Switch In Prostate Cancer May Yield Targets For Cancer Drugs

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/944 PubMed articles for FGFR2 gene (see all 944 ):

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. (PubMed id 9150725)^{1, 3, 4, 6} Tartaglia M.... Battaglia P.A. (1997)
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (PubMed id 11781872)^{1, 3, 4, 6} Kan S.-H....Wilkie A.O.M. (2002)
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (PubMed id 7581378)^{1, 3, 4} Gorry M.C.... Ehrlich G.D. (1995)
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. (PubMed id 11390973)^{1, 3, 4} Ibrahimi O.A....Mohammadi M. (2001)
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. (PubMed id 8528214)^{1, 3, 4} Park W.-J.... Jabs E.W. (1995)
Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. (PubMed id 11856867)^{1, 3, 4} Ingersoll R.G....Jabs E.W. (2001)
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. (PubMed id 9677057)^{1, 3, 4} Passos-Bueno M.R.... Ribeiro S.F.M. (1998)
Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene. (PubMed id 1309608)^{1, 3, 4} Miki T.... Aaronson S.A. (1992)
A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity. (PubMed id 1400433)^{1, 3, 4} Dell K.R. and Williams L.T. (1992)
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (PubMed id 10712195)^{1, 3, 4} Glaser R.L.... Jabs E.W. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2263	HGNC: 3689	AceView: FGFR2	Ensembl:ENSG00000066468	euGenes: HUgn2263
ECgene: FGFR2	H-InvDB: FGFR2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for FGFR2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=FGFR2
NIEHS-SNPs	http://egp.gs.washington.edu/data/fgfr2/

Licensable Technologies for FGFR2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for FGFR2:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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Invitrogen Antibodies	Invitrogen Assays
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Antibodies for FGFR2

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FGFR2 Gene

protein-coding GIFtS: 76

Aliases &
Descriptions
for FGFR2

Summaries
for FGFR2

Genomic Location
for FGFR2

Proteins
for FGFR2

Protein Domains/
Families
for FGFR2

Gene Function
for FGFR2

Pathways & Interactions
for FGFR2

Drugs & Compounds
for FGFR2

Transcripts
for FGFR2

Expression
for FGFR2

Orthologs
for FGFR2

Paralogs
for FGFR2

SNPs/Variants
for FGFR2

Disorders & Mutations
for FGFR2

Medical News
for FGFR2

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for FGFR2

Search for FGFR2

Genome Databases showing FGFR2

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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

FGFR2 (Gene Symbol)
BEK
BFR-1
CD332
CEK3
CFD1
EC 2.7.10.1
ECT1
FGFR-2
FLJ98662
JWS
K-SAM
KGFR
KSAM
OTTHUMP00000020621
OTTHUMP00000020629
TK14
TK25
BEK fibroblast growth factor receptor
CD332 antigen
FGF receptor
Jackson-Weiss syndrome
Keratinocyte growth factor receptor 2
bacteria-expressed kinase
craniofacial dysostosis 1
fibroblast growth factor receptor 2
hydroxyaryl-protein kinase
keratinocyte growth factor receptor
protein tyrosine kinase, receptor like 14
soluble FGFR4 variant 4

FGFR2 Gene

protein-coding GIFtS: 76

Aliases & Descriptionsfor FGFR2

Summariesfor FGFR2

Genomic Locationfor FGFR2

Proteinsfor FGFR2

Protein Domains/Familiesfor FGFR2

Gene Functionfor FGFR2

Pathways & Interactionsfor FGFR2

Drugs & Compoundsfor FGFR2

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Expression for FGFR2

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Paralogsfor FGFR2

SNPs/Variantsfor FGFR2

Disorders & Mutationsfor FGFR2

Medical Newsfor FGFR2

Publicationsfor FGFR2

Search for FGFR2

Genome Databases showing FGFR2

Other Databases showing FGFR2

Specialized Databases showing FGFR2

Licensable Technologiesfor FGFR2

Servicesfor FGFR2

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 FGFR2

Summaries
for FGFR2

Genomic Location
for FGFR2

Proteins
for FGFR2

Protein Domains/
Families
for FGFR2

Gene Function
for FGFR2

Pathways & Interactions
for FGFR2

Drugs & Compounds
for FGFR2

Transcripts
for FGFR2

Expression
for FGFR2

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for FGFR2

Paralogs
for FGFR2

SNPs/Variants
for FGFR2

Disorders & Mutations
for FGFR2

Medical News
for FGFR2

Publications
for FGFR2

Licensable Technologies
for FGFR2

Services
for FGFR2