Tclin FGFR2 Fibroblast growth factor receptor 2

Protein Summary

Description

Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. 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, Jan 2009]

Uniprot Accession IDs

• P21802
• B4DFC2
• E7EVR6
• E9PCR0
• P18443
• Q01742
• Q12922
• Q14300
• Q14301
• Q14302
• Q14303
• Q14304
• Q14305
• Q14672
• Q14718
• Q14719
• Q1KHY5
• Q86YI4
• Q8IXC7
• Q96KL9
• Q96KM0
• Q96KM1
• Q96KM2
• Q9NZU2
• Q9NZU3
• Q9UD01
• Q9UD02
• Q9UIH3
• Q9UIH4
• Q9UIH5
• Q9UIH6
• Q9UIH7
• Q9UIH8
• Q9UM87
• Q9UMC6
• Q9UNS7
• Q9UQH7
• Q9UQH8
• Q9UQH9
• Q9UQI0
• FGFR-2

Gene Name

• FGFR2

Ensembl ID

• ENST00000346997
• ENSP00000263451
• ENSG00000066468
• ENST00000356226
• ENSP00000348559
• ENST00000357555
• ENSP00000350166
• ENST00000358487
• ENSP00000351276
• ENST00000359354
• ENSP00000352309
• ENST00000360144
• ENSP00000353262
• ENST00000369056
• ENSP00000358052
• ENST00000369058
• ENSP00000358054
• ENST00000369060
• ENSP00000358056
• ENST00000369061
• ENSP00000358057
• ENST00000457416
• ENSP00000410294

Symbol

• BEK
• KGFR
• KSAM
• BEK
• JWS
• BBDS
• CEK3
• CFD1
• ECT1
• KGFR
• TK14
• TK25
• BFR-1
• CD332
• K-SAM

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
molecular function	1
protein domain	1
PubMedID	1
phenotype	0.95

Protein Classes

DTO Classes

Protein / Kinase / Protein Kinase / Tk Group / Fgfr Family / Fibroblast Growth Factor Receptor 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1911.49   (req: < 5)

Gene RIFs: 523   (req: <= 3)

Antibodies: 1176   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1911.49   (req: >= 5)

Gene RIFs: 523   (req: > 3)

Antibodies: 1176   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 118

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 710

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 6